ST6GALNAC2[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 2320920	NM_006456.3(ST6GALNAC2):c.1114T>C (p.Tyr372His)	ST6GALNAC2 (Y372H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511149	NM_006456.3(ST6GALNAC2):c.1054G>A (p.Asp352Asn)	ST6GALNAC2 (D352N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591680	NM_006456.3(ST6GALNAC2):c.1003G>A (p.Asp335Asn)	ST6GALNAC2 (D335N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334689	NM_006456.3(ST6GALNAC2):c.984C>G (p.Ser328Arg)	ST6GALNAC2 (S328R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170674	NM_006456.3(ST6GALNAC2):c.905T>C (p.Met302Thr)	ST6GALNAC2 (M302T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322877	NM_006456.3(ST6GALNAC2):c.746T>C (p.Val249Ala)	ST6GALNAC2 (V249A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524644	NM_006456.3(ST6GALNAC2):c.662A>G (p.Gln221Arg)	ST6GALNAC2 (Q221R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343580	NM_006456.3(ST6GALNAC2):c.575C>T (p.Thr192Ile)	ST6GALNAC2 (T192I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555705	NM_006456.3(ST6GALNAC2):c.559G>A (p.Glu187Lys)	ST6GALNAC2 (E187K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170673	NM_006456.3(ST6GALNAC2):c.508G>A (p.Asp170Asn)	ST6GALNAC2 (D170N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170672	NM_006456.3(ST6GALNAC2):c.476T>A (p.Ile159Asn)	ST6GALNAC2 (I159N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299198	NM_006456.3(ST6GALNAC2):c.469G>A (p.Gly157Arg)	ST6GALNAC2 (G157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322953	NM_006456.3(ST6GALNAC2):c.457G>A (p.Val153Met)	ST6GALNAC2 (V153M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170670	NM_006456.3(ST6GALNAC2):c.449G>A (p.Arg150Gln)	ST6GALNAC2 (R150Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382177	NM_006456.3(ST6GALNAC2):c.400A>T (p.Ser134Cys)	ST6GALNAC2 (S134C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170669	NM_006456.3(ST6GALNAC2):c.359A>G (p.Gln120Arg)	ST6GALNAC2 (Q120R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354708	NM_006456.3(ST6GALNAC2):c.356A>T (p.His119Leu)	ST6GALNAC2 (H119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331405	NM_006456.3(ST6GALNAC2):c.343C>G (p.Arg115Gly)	ST6GALNAC2 (R115G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170667	NM_006456.3(ST6GALNAC2):c.328G>A (p.Ala110Thr)	ST6GALNAC2 (A110T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267447	NM_006456.3(ST6GALNAC2):c.325A>C (p.Lys109Gln)	ST6GALNAC2 (K109Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170666	NM_006456.3(ST6GALNAC2):c.317G>A (p.Ser106Asn)	ST6GALNAC2 (S106N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302102	NM_006456.3(ST6GALNAC2):c.310C>T (p.Arg104Cys)	ST6GALNAC2 (R104C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170665	NM_006456.3(ST6GALNAC2):c.284A>T (p.Asp95Val)	ST6GALNAC2 (D95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610681	NM_006456.3(ST6GALNAC2):c.278G>T (p.Trp93Leu)	ST6GALNAC2 (W93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170664	NM_006456.3(ST6GALNAC2):c.254A>G (p.Asn85Ser)	ST6GALNAC2 (N85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305329	NM_006456.3(ST6GALNAC2):c.250T>C (p.Phe84Leu)	ST6GALNAC2 (F84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322952	NM_006456.3(ST6GALNAC2):c.242G>A (p.Arg81His)	ST6GALNAC2 (R81H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322954	NM_006456.3(ST6GALNAC2):c.241C>T (p.Arg81Cys)	ST6GALNAC2 (R81C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397633	NM_006456.3(ST6GALNAC2):c.227G>A (p.Arg76Gln)	ST6GALNAC2 (R76Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170663	NM_006456.3(ST6GALNAC2):c.212A>T (p.His71Leu)	ST6GALNAC2 (H71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479992	NM_006456.3(ST6GALNAC2):c.134C>T (p.Thr45Ile)	ST6GALNAC2 (T45I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352197	NM_006456.3(ST6GALNAC2):c.62G>T (p.Gly21Val)	LOC130061738, ST6GALNAC2 (G21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268041	NM_006456.3(ST6GALNAC2):c.56G>T (p.Cys19Phe)	LOC130061738, ST6GALNAC2 (C19F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278476	NM_006456.3(ST6GALNAC2):c.44T>C (p.Leu15Pro)	LOC130061738, ST6GALNAC2 (L15P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170668	NM_006456.3(ST6GALNAC2):c.34C>A (p.Leu12Met)	LOC130061738, ST6GALNAC2 (L12M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 815954	GRCh37/hg19 17q25.1-25.3(chr17:74509193-75602123)x1	ST6GALNAC1, MGAT5B +10 more	Copy number loss	not provided	GUncertain significance
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 688335	GRCh37/hg19 17q25.1(chr17:74523892-74574103)x1	CYGB, PRCD +1 more	Copy number loss	not provided	GUncertain significance
Select item 687411	GRCh37/hg19 17q25.1(chr17:74401337-74574103)x3	AANAT, CYGB +4 more	Copy number gain	not provided	GUncertain significance
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 443013	GRCh37/hg19 17q25.1-25.2(chr17:73992637-75099218)x4	AANAT, CDK3 +25 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 51