23614[HGNC] - ClinVar

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Items: 55

	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 2217382	NM_018414.5(ST6GALNAC1):c.1780G>A (p.Gly594Arg)	ST6GALNAC1 (G594R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322948	NM_018414.5(ST6GALNAC1):c.1769G>A (p.Arg590His)	ST6GALNAC1 (R458H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358732	NM_018414.5(ST6GALNAC1):c.1768C>A (p.Arg590Ser)	ST6GALNAC1 (R590S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528314	NM_018414.5(ST6GALNAC1):c.1703A>G (p.Asp568Gly)	ST6GALNAC1 (D568G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170657	NM_018414.5(ST6GALNAC1):c.1694T>C (p.Ile565Thr)	ST6GALNAC1 (I565T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2307747	NM_018414.5(ST6GALNAC1):c.1661A>G (p.Tyr554Cys)	ST6GALNAC1 (Y554C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288426	NM_018414.5(ST6GALNAC1):c.1658A>G (p.Tyr553Cys)	ST6GALNAC1 (Y421C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620482	NM_018414.5(ST6GALNAC1):c.1630G>A (p.Glu544Lys)	ST6GALNAC1 (E412K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170656	NM_018414.5(ST6GALNAC1):c.1628C>A (p.Thr543Asn)	ST6GALNAC1 (T543N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170655	NM_018414.5(ST6GALNAC1):c.1553G>A (p.Arg518His)	ST6GALNAC1 (R386H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599327	NM_018414.5(ST6GALNAC1):c.1517C>G (p.Ser506Cys)	ST6GALNAC1 (S506C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393415	NM_018414.5(ST6GALNAC1):c.1444G>A (p.Ala482Thr)	ST6GALNAC1 (A350T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322950	NM_018414.5(ST6GALNAC1):c.1396A>G (p.Lys466Glu)	ST6GALNAC1 (K334E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213067	NM_018414.5(ST6GALNAC1):c.1297G>A (p.Val433Met)	ST6GALNAC1 (V433M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2391833	NM_018414.5(ST6GALNAC1):c.1267C>A (p.Leu423Ile)	ST6GALNAC1 (L423I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588844	NM_018414.5(ST6GALNAC1):c.1243G>A (p.Ala415Thr)	ST6GALNAC1 (A283T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170654	NM_018414.5(ST6GALNAC1):c.1234G>A (p.Gly412Ser)	ST6GALNAC1 (G412S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595330	NM_018414.5(ST6GALNAC1):c.1180G>A (p.Gly394Arg)	ST6GALNAC1 (G394R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401758	NM_018414.5(ST6GALNAC1):c.1111G>A (p.Gly371Arg)	ST6GALNAC1 (G239R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213559	NM_018414.5(ST6GALNAC1):c.1081C>T (p.Arg361Trp)	ST6GALNAC1 (R361W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322949	NM_018414.5(ST6GALNAC1):c.1078C>G (p.Leu360Val)	ST6GALNAC1 (L360V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050140	NM_018414.5(ST6GALNAC1):c.1048C>A (p.Leu350Met)	ST6GALNAC1 (L218M +1 more)	Single nucleotide variant (missense variant +1 more)	ST6GALNAC1-related disorder	GLikely benign
Select item 2394201	NM_018414.5(ST6GALNAC1):c.1015G>A (p.Val339Met)	ST6GALNAC1 (V207M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475019	NM_018414.5(ST6GALNAC1):c.971C>G (p.Pro324Arg)	ST6GALNAC1 (P192R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533266	NM_018414.5(ST6GALNAC1):c.938G>A (p.Ser313Asn)	ST6GALNAC1 (S181N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471729	NM_018414.5(ST6GALNAC1):c.811G>A (p.Glu271Lys)	ST6GALNAC1 (E139K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474586	NM_018414.5(ST6GALNAC1):c.782G>A (p.Arg261Gln)	ST6GALNAC1 (R261Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170661	NM_018414.5(ST6GALNAC1):c.655G>A (p.Val219Met)	ST6GALNAC1 (V219M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170660	NM_018414.5(ST6GALNAC1):c.646C>G (p.Gln216Glu)	ST6GALNAC1 (Q216E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708610	NM_018414.5(ST6GALNAC1):c.620C>T (p.Thr207Ile)	ST6GALNAC1 (T75I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 789098	NM_018414.5(ST6GALNAC1):c.619A>C (p.Thr207Pro)	ST6GALNAC1 (T75P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2374402	NM_018414.5(ST6GALNAC1):c.583C>T (p.Leu195Phe)	ST6GALNAC1 (L63F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204340	NM_018414.5(ST6GALNAC1):c.530C>A (p.Ser177Tyr)	ST6GALNAC1 (S177Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332577	NM_018414.5(ST6GALNAC1):c.349C>T (p.His117Tyr)	ST6GALNAC1 (H117Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3170659	NM_018414.5(ST6GALNAC1):c.346C>A (p.Pro116Thr)	ST6GALNAC1 (P116T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2373719	NM_018414.5(ST6GALNAC1):c.256C>T (p.Leu86Phe)	ST6GALNAC1 (L86F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3322951	NM_018414.5(ST6GALNAC1):c.227A>G (p.Tyr76Cys)	ST6GALNAC1 (Y76C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3170658	NM_018414.5(ST6GALNAC1):c.195G>C (p.Gln65His)	ST6GALNAC1 (Q65H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3170662	NM_018414.5(ST6GALNAC1):c.71T>C (p.Leu24Pro)	ST6GALNAC1 (L24P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2536227	NM_018414.5(ST6GALNAC1):c.10T>G (p.Cys4Gly)	ST6GALNAC1 (C4G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1808034	GRCh37/hg19 17q25.1(chr17:74583055-74669593)x1	ST6GALNAC1	Copy number loss	not provided	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 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: 55