"Ambry Genetics"[submitter] AND "GP2"[gene] - ClinVar

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

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3101050	NM_001502.4(GP2):c.1562G>T (p.Trp521Leu)	GP2 (W374L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274114	NM_001502.4(GP2):c.1549T>C (p.Phe517Leu)	GP2 (F370L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265296	NM_001502.4(GP2):c.1495C>T (p.Arg499Trp)	GP2 (R352W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514112	NM_001502.4(GP2):c.1441A>G (p.Ser481Gly)	GP2 (S334G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465523	NM_001502.4(GP2):c.1414C>T (p.Pro472Ser)	GP2 (P328S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101049	NM_001502.4(GP2):c.1397T>C (p.Leu466Pro)	GP2 (L319P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101048	NM_001502.4(GP2):c.1370A>G (p.His457Arg)	GP2 (H313R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101047	NM_001502.4(GP2):c.1307C>G (p.Ser436Trp)	GP2 (S289W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251917	NM_001502.4(GP2):c.1169G>A (p.Arg390Gln)	GP2 (R390Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101046	NM_001502.4(GP2):c.1135G>A (p.Val379Met)	GP2 (V379M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379340	NM_001502.4(GP2):c.1126G>A (p.Val376Met)	GP2 (V229M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3101044	NM_001502.4(GP2):c.1030G>A (p.Gly344Arg)	GP2 (G197R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286559	NM_001502.4(GP2):c.877A>T (p.Ile293Phe)	GP2 (I149F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383959	NM_001502.4(GP2):c.822C>A (p.Ser274Arg)	GP2 (S127R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215877	NM_001502.4(GP2):c.761G>A (p.Arg254Gln)	GP2 (R254Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101057	NM_001502.4(GP2):c.746T>A (p.Val249Asp)	GP2 (V102D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589116	NM_001502.4(GP2):c.736G>T (p.Gly246Trp)	GP2 (G102W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282004	NM_001502.4(GP2):c.735G>C (p.Leu245Phe)	GP2 (L245F +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3282002	NM_001502.4(GP2):c.664C>T (p.Pro222Ser)	GP2 (P225S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523736	NM_001502.4(GP2):c.603C>A (p.Asn201Lys)	GP2 (N54K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101056	NM_001502.4(GP2):c.577C>T (p.Pro193Ser)	GP2 (P193S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101055	NM_001502.4(GP2):c.508C>T (p.Pro170Ser)	GP2 (P170S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282001	NM_001502.4(GP2):c.493C>T (p.Arg165Trp)	GP2 (R165W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288812	NM_001502.4(GP2):c.461T>C (p.Val154Ala)	GP2 (V154A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241696	NM_001502.4(GP2):c.395T>C (p.Ile132Thr)	GP2 (I132T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101054	NM_001502.4(GP2):c.382C>T (p.Leu128Phe)	GP2 (L128F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486404	NM_001502.4(GP2):c.357G>A (p.Met119Ile)	GP2 (M119I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101052	NM_001502.4(GP2):c.335G>A (p.Arg112Gln)	GP2 (R112Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282003	NM_001502.4(GP2):c.311C>T (p.Ser104Leu)	GP2 (S104L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101051	NM_001502.4(GP2):c.305G>A (p.Arg102Lys)	GP2 (R102K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603561	NM_001502.4(GP2):c.256G>A (p.Asp86Asn)	GP2 (D86N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306296	NM_001502.4(GP2):c.148G>A (p.Ala50Thr)	GP2 (A50T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101045	NM_001502.4(GP2):c.110T>C (p.Ile37Thr)	GP2 (I37T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2275426	NM_001502.4(GP2):c.95G>A (p.Gly32Asp)	GP2 (G32D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295771	NM_001502.4(GP2):c.49G>T (p.Ala17Ser)	GP2 (A17S)	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: 35