ST7L[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 57493	GRCh38/hg38 1p13.2(chr1:112147402-113470058)x3	CAPZA1, CTTNBP2NL +61 more	Copy number gain	See cases	GUncertain significance
Select item 2793117	NM_024494.3(WNT2B):c.947-18C>T	ST7L, WNT2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2038351	NM_024494.3(WNT2B):c.947-16C>G	ST7L, WNT2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971432	NM_024494.3(WNT2B):c.947-4C>T	ST7L, WNT2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908630	NM_024494.3(WNT2B):c.948T>C (p.Gly316=)	ST7L, WNT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3190726	NM_024494.3(WNT2B):c.967C>T (p.Arg323Cys)	ST7L, WNT2B (R231C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2730090	NM_024494.3(WNT2B):c.969T>C (p.Arg323=)	ST7L, WNT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3190727	NM_024494.3(WNT2B):c.983C>T (p.Thr328Ile)	ST7L, WNT2B (T236I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493435	NM_024494.3(WNT2B):c.994A>G (p.Thr332Ala)	ST7L, WNT2B (T240A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2170828	NM_024494.3(WNT2B):c.1000G>A (p.Gly334Ser)	ST7L, WNT2B (G334S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908726	NM_024494.3(WNT2B):c.1017C>T (p.Cys339=)	ST7L, WNT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905444	NM_024494.3(WNT2B):c.1032C>T (p.Tyr344=)	ST7L, WNT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2536566	NM_024494.3(WNT2B):c.1033G>A (p.Asp345Asn)	ST7L, WNT2B (D345N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1974920	NM_024494.3(WNT2B):c.1052G>A (p.Arg351His)	ST7L, WNT2B (R259H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041928	NM_024494.3(WNT2B):c.1059C>G (p.Thr353=)	ST7L, WNT2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2841916	NM_024494.3(WNT2B):c.1062G>A (p.Gln354=)	ST7L, WNT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712168	NM_024494.3(WNT2B):c.1096C>A (p.Arg366=)	ST7L, WNT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3190722	NM_024494.3(WNT2B):c.1097G>A (p.Arg366Gln)	ST7L, WNT2B (R366Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2040803	NM_024494.3(WNT2B):c.1126G>A (p.Val376Ile)	WNT2B, ST7L (V357I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 780256	NM_024494.3(WNT2B):c.1140A>G (p.Lys380=)	ST7L, WNT2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2065166	NM_024494.3(WNT2B):c.1142C>T (p.Ala381Val)	WNT2B, ST7L (A362V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2743128	NM_024494.3(WNT2B):c.1143C>T (p.Ala381=)	ST7L, WNT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710362	NM_024494.3(WNT2B):c.1158G>A (p.Glu386=)	ST7L, WNT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2320366	NM_024494.3(WNT2B):c.1159T>C (p.Trp387Arg)	ST7L, WNT2B (W387R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1608306	NM_024494.3(WNT2B):c.1170A>G (p.Gln390=)	ST7L, WNT2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2116080	NM_024494.3(WNT2B):c.1172C>A (p.Thr391Asn)	ST7L, WNT2B (T299N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888002	NM_024494.3(WNT2B):c.1173C>G (p.Thr391=)	ST7L, WNT2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 767688	NM_017744.5(ST7L):c.1712G>A (p.Gly571Asp)	ST7L, WNT2B (G388D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3170712	NM_017744.5(ST7L):c.1606A>G (p.Ile536Val)	ST7L (I505V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303296	NM_017744.5(ST7L):c.1561T>C (p.Ser521Pro)	ST7L (S521P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353806	NM_017744.5(ST7L):c.1466C>T (p.Thr489Met)	ST7L (T489M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2468377	NM_017744.5(ST7L):c.1322A>G (p.Tyr441Cys)	ST7L (Y424C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170711	NM_017744.5(ST7L):c.1030G>A (p.Ala344Thr)	ST7L (A327T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327151	NM_017744.5(ST7L):c.983T>C (p.Met328Thr)	ST7L (M328T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385888	NM_017744.5(ST7L):c.901A>G (p.Met301Val)	ST7L (M118V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170716	NM_017744.5(ST7L):c.872T>A (p.Val291Glu)	ST7L (V274E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170715	NM_017744.5(ST7L):c.845A>G (p.Glu282Gly)	ST7L (E265G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304642	NM_017744.5(ST7L):c.842A>G (p.His281Arg)	ST7L (H264R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270416	NM_017744.5(ST7L):c.748A>G (p.Ile250Val)	ST7L (I233V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489069	NM_017744.5(ST7L):c.637T>C (p.Trp213Arg)	ST7L (W196R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603442	NM_017744.5(ST7L):c.400G>C (p.Gly134Arg)	ST7L (G134R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2310703	NM_017744.5(ST7L):c.387C>A (p.Ser129Arg)	ST7L (S129R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2618814	NM_017744.5(ST7L):c.320G>C (p.Gly107Ala)	ST7L (G90A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2523752	NM_017744.5(ST7L):c.311A>G (p.His104Arg)	ST7L (H104R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2314091	NM_017744.5(ST7L):c.292T>C (p.Phe98Leu)	ST7L (I70T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 790336	NM_017744.5(ST7L):c.259A>T (p.Thr87Ser)	ST7L (T87S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3170713	NM_017744.5(ST7L):c.163G>A (p.Ala55Thr)	ST7L (A55T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622188	NM_017744.5(ST7L):c.146G>C (p.Gly49Ala)	ST7L (G49A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458923	NM_017744.5(ST7L):c.124G>A (p.Ala42Thr)	ST7L (A42T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469580	NM_017744.5(ST7L):c.122G>A (p.Gly41Glu)	ST7L (G41E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401337	NM_017744.5(ST7L):c.44C>T (p.Ala15Val)	ST7L (A15V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614574	NM_017744.5(ST7L):c.25G>C (p.Glu9Gln)	ST7L (E9Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063355	GRCh37/hg19 1p13.2(chr1:113095600-113554789)x3	CAPZA1, MOV10 +5 more	Copy number gain	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	CSDE1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	DDX20, LRIF1 +34 more	Deletion	not provided	GPathogenic
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 221415	GRCh37/hg19 1p13.2(chr1:113134186-113265713)x3	CAPZA1, MOV10 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 65