ClinVar for MedGen (Select 343767) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954547	NM_005219.5(DIAPH1):c.369G>C (p.Glu123Asp)	DIAPH1 (E114D +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2954538	NM_005219.5(DIAPH1):c.3662-19C>G	DIAPH1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2954508	NM_005219.5(DIAPH1):c.1952T>A (p.Ile651Asn)	DIAPH1 (I642N +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2954501	NM_005219.5(DIAPH1):c.3099T>A (p.Asp1033Glu)	DIAPH1 (D1024E +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2954467	NM_005219.5(DIAPH1):c.1642-14T>C	DIAPH1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2954432	NM_005219.5(DIAPH1):c.1220A>G (p.Glu407Gly)	DIAPH1 (E407G +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2954390	NM_005219.5(DIAPH1):c.2846A>T (p.Gln949Leu)	DIAPH1 (Q940L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2954188	NM_005219.5(DIAPH1):c.3149-3T>A	DIAPH1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2954076	NM_005219.5(DIAPH1):c.3635T>C (p.Phe1212Ser)	DIAPH1 (F1203S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2954005	NM_005219.5(DIAPH1):c.2312A>C (p.Lys771Thr)	DIAPH1 (K762T +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2953941	NM_005219.5(DIAPH1):c.839del (p.Leu280fs)	DIAPH1 (L271fs +1 more)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GPathogenic
Select item 2953888	NM_005219.5(DIAPH1):c.3711G>A (p.Leu1237=)	DIAPH1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2953838	NM_005219.5(DIAPH1):c.933+16G>A	DIAPH1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2953813	NM_005219.5(DIAPH1):c.1236C>A (p.Ser412=)	DIAPH1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2953658	NM_005219.5(DIAPH1):c.2666C>T (p.Ser889Phe)	DIAPH1 (S889F +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2953600	NM_005219.5(DIAPH1):c.221C>T (p.Ser74Leu)	DIAPH1 (S74L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2953430	NM_005219.5(DIAPH1):c.301-6T>C	DIAPH1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2953287	NM_005219.5(DIAPH1):c.198T>A (p.Ser66=)	DIAPH1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2953190	NM_005219.5(DIAPH1):c.89del (p.Gly30fs)	DIAPH1 (G30fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GPathogenic
Select item 2953060	NM_005219.5(DIAPH1):c.117T>C (p.Phe39=)	DIAPH1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2952936	NM_005219.5(DIAPH1):c.3600C>T (p.Asp1200=)	DIAPH1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2952734	NM_005219.5(DIAPH1):c.2771G>T (p.Gly924Val)	DIAPH1 (G915V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2952679	NM_005219.5(DIAPH1):c.666A>G (p.Lys222=)	DIAPH1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2952630	NM_005219.5(DIAPH1):c.708G>A (p.Glu236=)	DIAPH1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2952554	NM_005219.5(DIAPH1):c.469C>G (p.Arg157Gly)	DIAPH1 (R148G +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2952405	NM_005219.5(DIAPH1):c.3574+15C>G	DIAPH1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2952242	NM_005219.5(DIAPH1):c.3574+5G>C	DIAPH1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2952240	NM_005219.5(DIAPH1):c.482T>C (p.Leu161Pro)	DIAPH1 (L161P +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2952129	NM_005219.5(DIAPH1):c.2287C>G (p.Leu763Val)	DIAPH1 (L754V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2951954	NM_005219.5(DIAPH1):c.2263T>C (p.Phe755Leu)	DIAPH1 (F755L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2951823	NM_005219.5(DIAPH1):c.1650G>A (p.Lys550=)	DIAPH1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2951813	NM_005219.5(DIAPH1):c.1164-9C>G	DIAPH1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2951763	NM_005219.5(DIAPH1):c.381A>G (p.Gln127=)	DIAPH1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2951760	NM_005219.5(DIAPH1):c.533+18G>C	DIAPH1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2951633	NM_005219.5(DIAPH1):c.3182A>G (p.Gln1061Arg)	DIAPH1 (Q1061R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2951527	NM_005219.5(DIAPH1):c.3112C>G (p.Pro1038Ala)	DIAPH1 (P1038A +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2951165	NM_005219.5(DIAPH1):c.3297A>G (p.Glu1099=)	DIAPH1	Single nucleotide variant (synonymous variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GLikely benign
Select item 2951074	NM_005219.5(DIAPH1):c.58G>A (p.Gly20Ser)	DIAPH1 (G20S)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2951034	NM_005219.5(DIAPH1):c.147G>A (p.Leu49=)	DIAPH1	Single nucleotide variant (synonymous variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2950677	NM_005219.5(DIAPH1):c.3589G>T (p.Gly1197Cys)	DIAPH1 (G1197C +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2950613	NM_005219.5(DIAPH1):c.144+2T>G	DIAPH1	Single nucleotide variant (intron variant +1 more)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GLikely pathogenic
Select item 2950374	NM_005219.5(DIAPH1):c.792T>C (p.Ser264=)	DIAPH1	Single nucleotide variant (synonymous variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GLikely benign
Select item 2950366	NM_005219.5(DIAPH1):c.118-5C>G	DIAPH1	Single nucleotide variant (intron variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GLikely benign
Select item 2950264	NM_005219.5(DIAPH1):c.2456T>C (p.Phe819Ser)	DIAPH1 (F810S +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2950244	NM_005219.5(DIAPH1):c.3507G>C (p.Lys1169Asn)	DIAPH1 (K1169N +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2949961	NM_005219.5(DIAPH1):c.411C>G (p.Ser137Arg)	DIAPH1 (S128R +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2949859	NM_005219.5(DIAPH1):c.3254A>G (p.Lys1085Arg)	DIAPH1 (K1076R +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2949713	NM_005219.5(DIAPH1):c.3274-37TTGGTC[2]	DIAPH1	Microsatellite (intron variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GLikely benign
Select item 2949525	NM_005219.5(DIAPH1):c.1044+6A>G	DIAPH1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2949270	NM_005219.5(DIAPH1):c.486C>T (p.Leu162=)	DIAPH1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2949210	NM_005219.5(DIAPH1):c.1910C>A (p.Thr637Asn)	DIAPH1 (T637N +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2948870	NM_005219.5(DIAPH1):c.699C>A (p.Thr233=)	DIAPH1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2948756	NM_005219.5(DIAPH1):c.3706G>C (p.Glu1236Gln)	DIAPH1 (E1236Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2948692	NM_005219.5(DIAPH1):c.1069G>C (p.Asp357His)	DIAPH1 (D357H +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2948689	NM_005219.5(DIAPH1):c.3662-20T>G	DIAPH1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2948617	NM_005219.5(DIAPH1):c.300+19A>G	DIAPH1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2948591	NM_005219.5(DIAPH1):c.689G>C (p.Gly230Ala)	DIAPH1 (G221A +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2948543	NM_005219.5(DIAPH1):c.2255C>A (p.Pro752Gln)	DIAPH1 (P743Q +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2948528	NM_005219.5(DIAPH1):c.437T>C (p.Met146Thr)	DIAPH1 (M137T +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2948344	NM_005219.5(DIAPH1):c.486C>G (p.Leu162=)	DIAPH1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2947897	NM_005219.5(DIAPH1):c.2778+2dup	DIAPH1	Duplication (splice donor variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2947826	NM_005219.5(DIAPH1):c.300+13T>C	DIAPH1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2947615	NM_005219.5(DIAPH1):c.1642G>A (p.Val548Ile)	DIAPH1 (V539I +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2947459	NM_005219.5(DIAPH1):c.2676+13G>T	DIAPH1	Single nucleotide variant (intron variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GLikely benign
Select item 2947430	NM_005219.5(DIAPH1):c.753T>A (p.Ala251=)	DIAPH1	Single nucleotide variant (synonymous variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GLikely benign
Select item 2947159	NM_005219.5(DIAPH1):c.3555A>C (p.Gln1185His)	DIAPH1 (Q1176H +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2947039	NM_005219.5(DIAPH1):c.2493T>G (p.Asp831Glu)	DIAPH1 (D822E +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2947015	NM_005219.5(DIAPH1):c.3574+18_3574+22del	DIAPH1	Deletion (intron variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GLikely benign
Select item 2946933	NM_005219.5(DIAPH1):c.621-3C>T	DIAPH1	Single nucleotide variant (intron variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2946749	NM_005219.5(DIAPH1):c.358A>G (p.Ile120Val)	DIAPH1 (I111V +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2946673	NM_005219.5(DIAPH1):c.3081T>C (p.Cys1027=)	DIAPH1	Single nucleotide variant (synonymous variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GLikely benign
Select item 2946671	NM_005219.5(DIAPH1):c.3409G>T (p.Asp1137Tyr)	DIAPH1 (D1137Y +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2946636	NM_005219.5(DIAPH1):c.2091T>A (p.Ser697Arg)	DIAPH1 (S688R +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2946602	NM_005219.5(DIAPH1):c.158C>T (p.Thr53Ile)	DIAPH1 (T44I +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2946587	NM_005219.5(DIAPH1):c.1726G>A (p.Val576Ile)	DIAPH1 (V567I +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2946449	NM_005219.5(DIAPH1):c.279G>A (p.Leu93=)	DIAPH1	Single nucleotide variant (synonymous variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GLikely benign
Select item 2946397	NM_005219.5(DIAPH1):c.1517A>T (p.Glu506Val)	DIAPH1 (E497V +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2946380	NM_005219.5(DIAPH1):c.2880C>T (p.Val960=)	DIAPH1	Single nucleotide variant (synonymous variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GLikely benign
Select item 2946254	NM_005219.5(DIAPH1):c.2358+13_2358+16del	DIAPH1	Deletion (intron variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GLikely benign
Select item 2946126	NM_005219.5(DIAPH1):c.407T>C (p.Met136Thr)	DIAPH1 (M136T +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2946028	NM_005219.5(DIAPH1):c.132C>T (p.Leu44=)	DIAPH1	Single nucleotide variant (synonymous variant +1 more)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GLikely benign
Select item 2945779	NM_005219.5(DIAPH1):c.890C>T (p.Pro297Leu)	DIAPH1 (P297L +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2945742	NM_005219.5(DIAPH1):c.1308A>G (p.Glu436=)	DIAPH1	Single nucleotide variant (synonymous variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GLikely benign
Select item 2945738	NM_005219.5(DIAPH1):c.2473+3G>C	DIAPH1	Single nucleotide variant (intron variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2945662	NM_005219.5(DIAPH1):c.1381A>G (p.Ile461Val)	DIAPH1 (I452V +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2945540	NM_005219.5(DIAPH1):c.543A>G (p.Gln181=)	DIAPH1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2945539	NM_005219.5(DIAPH1):c.2813A>T (p.Asn938Ile)	DIAPH1 (N929I +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2945484	NM_005219.5(DIAPH1):c.845C>T (p.Ala282Val)	DIAPH1 (A273V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2945456	NM_005219.5(DIAPH1):c.1599G>A (p.Glu533=)	DIAPH1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2945402	NM_005219.5(DIAPH1):c.75G>C (p.Glu25Asp)	DIAPH1 (E25D)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2945389	NM_005219.5(DIAPH1):c.2056A>G (p.Arg686Gly)	DIAPH1 (R686G +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2945331	NM_005219.5(DIAPH1):c.1879A>G (p.Ile627Val)	DIAPH1 (I618V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2945268	NM_005219.5(DIAPH1):c.3673G>T (p.Ala1225Ser)	DIAPH1 (A1225S +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2945143	NM_005219.5(DIAPH1):c.924T>G (p.Ile308Met)	DIAPH1 (I308M +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2945071	NM_005219.5(DIAPH1):c.1978G>T (p.Gly660Cys)	DIAPH1 (G651C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2944512	NM_005219.5(DIAPH1):c.3661G>A (p.Ala1221Thr)	DIAPH1 (A1221T +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2944507	NM_005219.5(DIAPH1):c.3662-14G>C	DIAPH1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2944428	NM_005219.5(DIAPH1):c.343G>C (p.Glu115Gln)	DIAPH1 (E115Q +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2944305	NM_005219.5(DIAPH1):c.825-20G>T	DIAPH1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2943981	NM_005219.5(DIAPH1):c.1524C>G (p.Asp508Glu)	DIAPH1 (D499E +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance

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