"Ambry Genetics"[submitter] AND "PTCHD4"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 47