ClinVar for MedGen (Select 371327) - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2736106	NM_004086.3(COCH):c.362T>C (p.Phe121Ser)	LOC100506071, COCH (F121S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2430251	NM_004086.3(COCH):c.366_371del (p.Val123_Thr124del)	COCH, LOC100506071	Deletion (inframe_deletion)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 1333477	NM_004086.3(COCH):c.113G>A (p.Gly38Asp)	COCH, LOC100506071 (G103D +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 1174533	NM_004086.3(COCH):c.341T>C (p.Leu114Pro)	COCH, LOC100506071 (L114P +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 9	GPathogenic
Select item 1028194	NM_004086.3(COCH):c.329A>G (p.Gln110Arg)	COCH, LOC100506071 (Q110R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 883577	NM_004086.3(COCH):c.*814G>A	COCH	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 9	GLikely benign
Select item 883576	NM_004086.3(COCH):c.*625T>C	COCH	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 9	GLikely benign
Select item 883575	NM_004086.3(COCH):c.*568A>C	COCH	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 883574	NM_004086.3(COCH):c.*432T>C	COCH	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 883531	NM_004086.3(COCH):c.615C>T (p.Gly205=)	COCH, LOC100506071	Single nucleotide variant (synonymous variant)	COCH-related condition +2 more	GBenign/Likely benign
Select item 883530	NM_004086.3(COCH):c.301T>A (p.Tyr101Asn)	COCH, LOC100506071 (Y166N +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 883529	NM_004086.3(COCH):c.293G>A (p.Arg98Gln)	COCH, LOC100506071 (R98Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 882792	NM_004086.3(COCH):c.*377T>C	COCH	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 882791	NM_004086.3(COCH):c.*358G>A	COCH	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 882790	NM_004086.3(COCH):c.*342A>T	COCH	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 882789	NM_004086.3(COCH):c.*339T>C	COCH	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 9	GLikely benign
Select item 882788	NM_004086.3(COCH):c.*245G>A	COCH	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 9	GLikely benign
Select item 882787	NM_004086.3(COCH):c.*237G>C	COCH	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 9	GLikely benign
Select item 882738	NM_004086.3(COCH):c.266C>A (p.Pro89His)	COCH, LOC100506071 (P154H +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 882737	NM_004086.3(COCH):c.126G>A (p.Arg42=)	COCH, LOC100506071	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 882736	NM_004086.3(COCH):c.108C>T (p.Thr36=)	COCH, LOC100506071	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 882735	NM_004086.3(COCH):c.-10A>G	COCH	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 881628	NM_004086.3(COCH):c.1436A>T (p.Tyr479Phe)	COCH, LOC100506071 (Y479F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 813819	NM_004086.3(COCH):c.1115T>C (p.Ile372Thr)	LOC100506071, COCH (I437T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 523013	NM_004086.3(COCH):c.1150C>T (p.Arg384Cys)	COCH, LOC100506071 (R384C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nonsyndromic hearing loss 9	GLikely pathogenic
Select item 500137	NM_004086.3(COCH):c.272G>A (p.Arg91Gln)	COCH, LOC100506071 (R91Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 313013	NM_004086.3(COCH):c.*612G>T	COCH	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 9	GLikely benign
Select item 313011	NM_004086.3(COCH):c.*407C>T	COCH	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 9	GBenign
Select item 313010	NM_004086.3(COCH):c.*275C>T	COCH	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 313009	NM_004086.3(COCH):c.*58A>G	COCH	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 313008	NM_004086.3(COCH):c.*39G>T	COCH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 313007	NM_004086.3(COCH):c.*27A>T	COCH	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 9 +2 more	GBenign
Select item 313006	NM_004086.3(COCH):c.*10T>A	COCH, LOC100506071	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 313005	NM_004086.3(COCH):c.1478-10T>C	COCH, LOC100506071	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 313004	NM_004086.3(COCH):c.1204A>G (p.Ile402Val)	COCH, LOC100506071 (I402V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nonsyndromic hearing loss 9 +3 more	GBenign/Likely benign
Select item 313003	NM_004086.3(COCH):c.981C>G (p.Gly327=)	COCH, LOC100506071	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nonsyndromic hearing loss 9	GUncertain significance
Select item 313002	NM_004086.3(COCH):c.961-8C>T	COCH, LOC100506071	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 313001	NM_004086.3(COCH):c.630-9T>C	COCH, LOC100506071	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nonsyndromic hearing loss 9 +2 more	GBenign/Likely benign
Select item 282143	NM_004086.3(COCH):c.1026C>T (p.Tyr342=)	COCH, LOC100506071	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nonsyndromic hearing loss 9 +2 more	GBenign
Select item 281981	NM_004086.3(COCH):c.629+5C>T	COCH, LOC100506071	Single nucleotide variant (intron variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 236036	NM_004086.3(COCH):c.1159C>T (p.Leu387Phe)	COCH, LOC100506071 (L387F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nonsyndromic hearing loss 9	GPathogenic
Select item 228525	NM_004086.3(COCH):c.971G>A (p.Arg324Gln)	COCH, LOC100506071 (R324Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nonsyndromic hearing loss 9 +3 more	GConflicting classifications of pathogenicity
Select item 228523	NM_004086.3(COCH):c.1348A>G (p.Ile450Val)	COCH, LOC100506071 (I450V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 227258	NM_004086.3(COCH):c.429A>G (p.Pro143=)	COCH, LOC100506071	Single nucleotide variant (synonymous variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 226529	NM_004086.3(COCH):c.841G>A (p.Asp281Asn)	COCH, LOC100506071 (D281N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 226528	NM_004086.3(COCH):c.1477+9C>A	COCH, LOC100506071	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 226527	NM_004086.3(COCH):c.1270T>G (p.Tyr424Asp)	COCH, LOC100506071 (Y424D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 226526	NM_004086.3(COCH):c.1269C>T (p.Asp423=)	COCH, LOC100506071	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 226525	NM_004086.3(COCH):c.1055C>G (p.Thr352Ser)	COCH, LOC100506071 (T352S +1 more)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal recessive 110 +3 more	GBenign
Select item 197227	NM_004086.3(COCH):c.239+5G>A	COCH, LOC100506071	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 162972	NM_004086.3(COCH):c.1553A>G (p.Glu518Gly)	COCH, LOC100506071 (E518G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 6616	NM_004086.3(COCH):c.1535T>C (p.Met512Thr)	LOC100506071, COCH (M512T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nonsyndromic hearing loss 9	GPathogenic
Select item 6615	NM_004086.3(COCH):c.1625G>A (p.Cys542Tyr)	COCH, LOC100506071 (C542Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nonsyndromic hearing loss 9	GPathogenic
Select item 6614	NM_004086.3(COCH):c.1625G>T (p.Cys542Phe)	COCH, LOC100506071 (C542F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 6613	NM_004086.3(COCH):c.355G>A (p.Ala119Thr)	COCH, LOC100506071 (A119T +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 6612	NM_004086.3(COCH):c.326T>A (p.Ile109Asn)	COCH, LOC100506071 (I109N +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 6611	NM_004086.3(COCH):c.151C>T (p.Pro51Ser)	COCH, LOC100506071 (P51S +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 6610	NM_004086.3(COCH):c.349T>C (p.Trp117Arg)	LOC100506071, COCH (W117R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 9	GPathogenic
Select item 6609	NM_004086.3(COCH):c.263G>A (p.Gly88Glu)	COCH, LOC100506071 (G88E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 6608	NM_004086.3(COCH):c.197T>G (p.Val66Gly)	COCH, LOC100506071 (V66G +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 9	GPathogenic

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Items: 60