Related gene-specific medical variations for Gene (Select 54984) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306674	NM_017884.6(PINX1):c.841G>C (p.Val281Leu)	LOC102723313, PINX1 (V281L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3306672	NM_017884.6(PINX1):c.872T>C (p.Leu291Pro)	LOC102723313, PINX1 (L291P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3306671	NM_017884.6(PINX1):c.860G>A (p.Arg287Gln)	LOC102723313, PINX1 (R287Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3306670	NM_017884.6(PINX1):c.759G>C (p.Lys253Asn)	LOC102723313, PINX1 (K253N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3306669	NM_017884.6(PINX1):c.515C>A (p.Thr172Lys)	LOC102723313, PINX1 (D146E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306668	NM_017884.6(PINX1):c.604A>G (p.Ile202Val)	LOC102723313, PINX1 (I202V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3213126	NM_017884.6(PINX1):c.911A>C (p.Lys304Thr)	LOC102723313, PINX1 (K304T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3213125	NM_017884.6(PINX1):c.769G>C (p.Ala257Pro)	LOC102723313, PINX1 (A257P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3213123	NM_017884.6(PINX1):c.762C>A (p.Ser254Arg)	LOC102723313, PINX1 (S254R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3213122	NM_017884.6(PINX1):c.711G>C (p.Glu237Asp)	LOC102723313, PINX1 (E237D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3213121	NM_017884.6(PINX1):c.710A>G (p.Glu237Gly)	LOC102723313, PINX1 (E237G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3213120	NM_017884.6(PINX1):c.707C>T (p.Thr236Met)	LOC102723313, PINX1 (T236M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3213119	NM_017884.6(PINX1):c.705C>G (p.His235Gln)	LOC102723313, PINX1 (H235Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3213118	NM_017884.6(PINX1):c.517A>G (p.Thr173Ala)	LOC102723313, PINX1 (T173A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063012	GRCh37/hg19 8p23.1(chr8:10606024-10657406)x1	PINX1	Copy number loss	not specified	GUncertain significance
Select item 2608894	NM_017884.6(PINX1):c.668A>T (p.Asp223Val)	LOC102723313, PINX1 (D223V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2596543	NM_017884.6(PINX1):c.867C>A (p.Phe289Leu)	LOC102723313, PINX1 (F289L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2596321	NM_017884.6(PINX1):c.733G>A (p.Ala245Thr)	LOC102723313, PINX1 (A245T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2596320	NM_017884.6(PINX1):c.688C>A (p.Pro230Thr)	LOC102723313, PINX1 (P230T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2554101	NM_017884.6(PINX1):c.563C>T (p.Ala188Val)	LOC102723313, PINX1 (A188V)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2552464	NM_017884.6(PINX1):c.764C>G (p.Ala255Gly)	LOC102723313, PINX1 (A255G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2549256	NM_017884.6(PINX1):c.733G>T (p.Ala245Ser)	LOC102723313, PINX1 (A245S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2536526	NM_017884.6(PINX1):c.973A>G (p.Lys325Glu)	LOC102723313, PINX1 (K325E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2530964	NM_017884.6(PINX1):c.730G>A (p.Glu244Lys)	LOC102723313, PINX1 (E244K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2513761	NM_017884.6(PINX1):c.589G>T (p.Val197Phe)	LOC102723313, PINX1 (S171I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490598	NM_017884.6(PINX1):c.848C>T (p.Pro283Leu)	LOC102723313, PINX1 (P283L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2458256	NM_017884.6(PINX1):c.763G>A (p.Ala255Thr)	LOC102723313, PINX1 (A255T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2405167	NM_017884.6(PINX1):c.856G>A (p.Gly286Ser)	LOC102723313, PINX1 (G286S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2395378	NM_017884.6(PINX1):c.963G>C (p.Lys321Asn)	LOC102723313, PINX1 (K321N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2356805	NM_017884.6(PINX1):c.599C>G (p.Ser200Cys)	LOC102723313, PINX1 (S200C)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2339497	NM_017884.6(PINX1):c.890G>C (p.Arg297Thr)	LOC102723313, PINX1 (R297T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2339146	NM_017884.6(PINX1):c.767C>T (p.Pro256Leu)	LOC102723313, PINX1 (P256L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2339145	NM_017884.6(PINX1):c.764C>T (p.Ala255Val)	LOC102723313, PINX1 (A255V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2335378	NM_017884.6(PINX1):c.815C>T (p.Ala272Val)	LOC102723313, PINX1 (A272V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 789598	NM_017884.6(PINX1):c.684C>G (p.Leu228=)	LOC102723313, PINX1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

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Links from Gene

Items: 35