PTCHD4[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146275	GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3	ADGRF1, ADGRF2 +78 more	Copy number gain	See cases	GLikely pathogenic
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 153225	GRCh38/hg38 6p12.3(chr6:47191779-51427306)x1	ADGRF2, ADGRF4 +64 more	Copy number loss	See cases	GLikely pathogenic
Select item 2347059	NM_001384253.1(PTCHD4):c.2461A>G (p.Lys821Glu)	PTCHD4 (K824E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220643	NM_001384253.1(PTCHD4):c.2446A>G (p.Lys816Glu)	PTCHD4 (K819E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553106	NM_001384253.1(PTCHD4):c.2338A>G (p.Thr780Ala)	PTCHD4 (T780A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220642	NM_001384253.1(PTCHD4):c.2240G>A (p.Ser747Asn)	PTCHD4 (S747N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220641	NM_001384253.1(PTCHD4):c.2168T>C (p.Ile723Thr)	PTCHD4 (I723T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220640	NM_001384253.1(PTCHD4):c.2116G>C (p.Asp706His)	PTCHD4 (D709H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338909	NM_001384253.1(PTCHD4):c.2102C>T (p.Thr701Ile)	PTCHD4 (T701I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322761	NM_001384253.1(PTCHD4):c.2036C>T (p.Pro679Leu)	PTCHD4 (P682L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623810	NM_001384253.1(PTCHD4):c.1990G>A (p.Gly664Ser)	PTCHD4 (G664S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602919	NM_001384253.1(PTCHD4):c.1961T>C (p.Val654Ala)	PTCHD4 (V654A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220638	NM_001384253.1(PTCHD4):c.1944C>A (p.Asp648Glu)	PTCHD4 (D648E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601635	NM_001384253.1(PTCHD4):c.1939A>G (p.Met647Val)	PTCHD4 (M647V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280816	NM_001384253.1(PTCHD4):c.1838G>A (p.Arg613Lys)	PTCHD4 (R616K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229174	NM_001384253.1(PTCHD4):c.1810C>T (p.Arg604Cys)	PTCHD4 (R604C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220637	NM_001384253.1(PTCHD4):c.1756C>G (p.Arg586Gly)	PTCHD4 (R586G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333088	NM_001384253.1(PTCHD4):c.1711G>A (p.Val571Ile)	PTCHD4 (V574I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605874	NM_001384253.1(PTCHD4):c.1684G>A (p.Ala562Thr)	PTCHD4 (A565T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220636	NM_001384253.1(PTCHD4):c.1612C>T (p.Leu538Phe)	PTCHD4 (L541F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309081	NM_001384253.1(PTCHD4):c.1558G>A (p.Val520Ile)	PTCHD4 (V523I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3220635	NM_001384253.1(PTCHD4):c.1391T>C (p.Val464Ala)	PTCHD4 (V464A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279846	NM_001384253.1(PTCHD4):c.1361G>T (p.Trp454Leu)	PTCHD4 (W454L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223301	NM_001384253.1(PTCHD4):c.1312T>C (p.Tyr438His)	PTCHD4 (Y441H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465319	NM_001384253.1(PTCHD4):c.1267A>G (p.Met423Val)	PTCHD4 (M423V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263838	NM_001384253.1(PTCHD4):c.1240C>T (p.Arg414Cys)	PTCHD4 (R414C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466713	NM_001384253.1(PTCHD4):c.1201A>G (p.Ile401Val)	PTCHD4 (I401V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319426	NM_001384253.1(PTCHD4):c.1103T>C (p.Met368Thr)	PTCHD4 (M368T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220647	NM_001384253.1(PTCHD4):c.971A>G (p.Asp324Gly)	PTCHD4 (D327G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279711	NM_001384253.1(PTCHD4):c.883C>A (p.Pro295Thr)	PTCHD4 (P295T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470445	NM_001384253.1(PTCHD4):c.866C>T (p.Ser289Phe)	PTCHD4 (S292F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216473	NM_001384253.1(PTCHD4):c.787C>T (p.Leu263Phe)	PTCHD4 (L266F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609947	NM_001384253.1(PTCHD4):c.666C>A (p.Asp222Glu)	PTCHD4 (D222E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237235	NM_001384253.1(PTCHD4):c.618T>A (p.His206Gln)	PTCHD4 (H209Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220646	NM_001384253.1(PTCHD4):c.610G>A (p.Glu204Lys)	PTCHD4 (E204K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548923	NM_001384253.1(PTCHD4):c.589A>G (p.Lys197Glu)	PTCHD4 (K200E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214758	NM_001384253.1(PTCHD4):c.560T>C (p.Ile187Thr)	PTCHD4 (I190T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347499	NM_001384253.1(PTCHD4):c.505G>A (p.Ala169Thr)	PTCHD4 (A172T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481096	NM_001384253.1(PTCHD4):c.480A>C (p.Lys160Asn)	PTCHD4 (K163N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534494	NM_001384253.1(PTCHD4):c.373G>A (p.Ala125Thr)	PTCHD4 (A128T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598590	NM_001384253.1(PTCHD4):c.359A>G (p.Asn120Ser)	PTCHD4 (N120S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216374	NM_001384253.1(PTCHD4):c.278A>G (p.Gln93Arg)	PTCHD4 (Q93R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220644	NM_001384253.1(PTCHD4):c.263T>C (p.Leu88Pro)	PTCHD4 (L91P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282757	NM_001384253.1(PTCHD4):c.218C>T (p.Pro73Leu)	PTCHD4 (P73L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359360	NM_001384253.1(PTCHD4):c.208C>G (p.Leu70Val)	PTCHD4 (L73V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286081	NM_001384253.1(PTCHD4):c.193G>C (p.Gly65Arg)	PTCHD4 (G65R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656635	NM_001384253.1(PTCHD4):c.189C>G (p.Pro63=)	PTCHD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2333965	NM_001384253.1(PTCHD4):c.110G>A (p.Arg37Gln)	PTCHD4 (R37Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220634	NM_001384253.1(PTCHD4):c.100T>G (p.Cys34Gly)	PTCHD4 (C34G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220639	NM_001384253.1(PTCHD4):c.11C>T (p.Pro4Leu)	PTCHD4 (P4L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 56