"Ambry Genetics"[submitter] AND "GPATCH4"[gene] - ClinVar

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

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2299687	NM_001396855.1(GPATCH4):c.1034A>G (p.Glu345Gly)	GPATCH4 (E350G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391653	NM_001396855.1(GPATCH4):c.1007G>T (p.Arg336Ile)	GPATCH4 (R341I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215842	NM_001396855.1(GPATCH4):c.994C>G (p.Pro332Ala)	GPATCH4 (P332A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485176	NM_001396855.1(GPATCH4):c.947C>T (p.Ala316Val)	GPATCH4 (A316V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215556	NM_001396855.1(GPATCH4):c.862A>G (p.Arg288Gly)	GPATCH4 (R293G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558602	NM_001396855.1(GPATCH4):c.733A>T (p.Arg245Trp)	GPATCH4 (R245W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615092	NM_001396855.1(GPATCH4):c.656C>T (p.Ala219Val)	GPATCH4 (A224V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306580	NM_001396855.1(GPATCH4):c.597C>A (p.Ser199Arg)	GPATCH4 (S199R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316524	NM_001396855.1(GPATCH4):c.596G>T (p.Ser199Ile)	GPATCH4 (S204I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101176	NM_001396855.1(GPATCH4):c.594G>C (p.Glu198Asp)	GPATCH4 (E198D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321217	NM_001396855.1(GPATCH4):c.572G>A (p.Gly191Glu)	GPATCH4 (G196E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509870	NM_001396855.1(GPATCH4):c.550C>T (p.Arg184Cys)	GPATCH4 (R189C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270454	NM_001396855.1(GPATCH4):c.500T>A (p.Met167Lys)	GPATCH4 (M167K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264445	NM_001396855.1(GPATCH4):c.356G>C (p.Gly119Ala)	GPATCH4 (G124A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554066	NM_001396855.1(GPATCH4):c.266G>A (p.Ser89Asn)	GPATCH4 (S89N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296472	NM_001396855.1(GPATCH4):c.238A>G (p.Thr80Ala)	GPATCH4 (T80A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101174	NM_001396855.1(GPATCH4):c.161A>G (p.His54Arg)	GPATCH4 (H54R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232333	NM_001396855.1(GPATCH4):c.64C>T (p.His22Tyr)	GPATCH4 (H27Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511883	NM_001396855.1(GPATCH4):c.63G>T (p.Lys21Asn)	GPATCH4 (K21N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289262	NM_001396855.1(GPATCH4):c.-65A>C	GPATCH4 (N9H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2207496	NM_001396855.1(GPATCH4):c.-74G>C	GPATCH4 (G6R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2350987	NM_001396855.1(GPATCH4):c.-79G>C	GPATCH4 (R4P)	Single nucleotide variant (5 prime UTR variant +1 more)	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: 22