CYP2S1[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 3079582	NM_030622.8(CYP2S1):c.13G>A (p.Gly5Ser)	CYP2S1 (G5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395332	NM_030622.8(CYP2S1):c.23C>T (p.Ala8Val)	CYP2S1 (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344663	NM_030622.8(CYP2S1):c.55C>A (p.Leu19Met)	CYP2S1 (L19M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290513	NM_030622.8(CYP2S1):c.71C>T (p.Ser24Phe)	CYP2S1 (S24F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270615	NM_030622.8(CYP2S1):c.88G>T (p.Gly30Cys)	CYP2S1 (G30C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079584	NM_030622.8(CYP2S1):c.178C>T (p.Leu60=)	CYP2S1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2594839	NM_030622.8(CYP2S1):c.197C>T (p.Pro66Leu)	CYP2S1 (P66L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359931	NM_030622.8(CYP2S1):c.199G>T (p.Val67Leu)	CYP2S1 (V67L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326409	NM_030622.8(CYP2S1):c.226C>T (p.Arg76Trp)	CYP2S1 (R76W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270610	NM_030622.8(CYP2S1):c.281A>G (p.Gln94Arg)	CYP2S1 (Q94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388092	NM_030622.8(CYP2S1):c.298G>A (p.Gly100Ser)	CYP2S1 (G100S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570316	NM_030622.8(CYP2S1):c.302G>A (p.Arg101Gln)	CYP2S1 (R101Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317040	NM_030622.8(CYP2S1):c.409G>A (p.Asp137Asn)	CYP2S1 (D137N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788469	NM_030622.8(CYP2S1):c.423G>A (p.Gly141=)	CYP2S1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2401226	NM_030622.8(CYP2S1):c.428G>A (p.Arg143Gln)	CYP2S1 (R143Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3079585	NM_030622.8(CYP2S1):c.430G>C (p.Glu144Gln)	CYP2S1 (E144Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079586	NM_030622.8(CYP2S1):c.436G>A (p.Glu146Lys)	CYP2S1 (E146K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610957	NM_030622.8(CYP2S1):c.470T>C (p.Val157Ala)	CYP2S1 (V157A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270616	NM_030622.8(CYP2S1):c.508C>T (p.Pro170Ser)	CYP2S1 (P170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317804	NM_030622.8(CYP2S1):c.523G>C (p.Ala175Pro)	CYP2S1 (A175P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621744	NM_030622.8(CYP2S1):c.607C>T (p.Arg203Trp)	CYP2S1 (R203W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270613	NM_030622.8(CYP2S1):c.709C>T (p.Leu237Phe)	CYP2S1 (L237F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270612	NM_030622.8(CYP2S1):c.749G>A (p.Arg250Gln)	CYP2S1 (R250Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2649922	NM_030622.8(CYP2S1):c.771G>C (p.Gly257=)	CYP2S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2460834	NM_030622.8(CYP2S1):c.775C>G (p.Leu259Val)	CYP2S1 (L259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486534	NM_030622.8(CYP2S1):c.782C>T (p.Ala261Val)	CYP2S1 (A261V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270611	NM_030622.8(CYP2S1):c.790C>A (p.Pro264Thr)	CYP2S1 (P264T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079588	NM_030622.8(CYP2S1):c.911C>T (p.Thr304Met)	CYP2S1 (T304M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407076	NM_030622.8(CYP2S1):c.934G>A (p.Gly312Ser)	CYP2S1 (G312S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601258	NM_030622.8(CYP2S1):c.947T>C (p.Leu316Pro)	CYP2S1 (L316P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079589	NM_030622.8(CYP2S1):c.988G>C (p.Glu330Gln)	CYP2S1 (E330Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079579	NM_030622.8(CYP2S1):c.1036G>T (p.Asp346Tyr)	CYP2S1 (D346Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715745	NM_030622.8(CYP2S1):c.1059C>T (p.Thr353=)	CYP2S1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2483378	NM_030622.8(CYP2S1):c.1105A>G (p.Met369Val)	CYP2S1 (M369V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282723	NM_030622.8(CYP2S1):c.1130G>A (p.Arg377Gln)	CYP2S1 (R377Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079580	NM_030622.8(CYP2S1):c.1135A>C (p.Thr379Pro)	CYP2S1 (T379P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320526	NM_030622.8(CYP2S1):c.1223A>T (p.His408Leu)	CYP2S1 (H408L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470604	NM_030622.8(CYP2S1):c.1246C>T (p.Arg416Cys)	CYP2S1 (R416C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079581	NM_030622.8(CYP2S1):c.1247G>A (p.Arg416His)	CYP2S1 (R416H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216588	NM_030622.8(CYP2S1):c.1313G>A (p.Arg438His)	CYP2S1 (R438H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270608	NM_030622.8(CYP2S1):c.1399T>C (p.Cys467Arg)	CYP2S1 (C467R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270609	NM_030622.8(CYP2S1):c.1406C>T (p.Pro469Leu)	CYP2S1 (P469L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2649923	NM_030622.8(CYP2S1):c.1407G>A (p.Pro469=)	CYP2S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2488191	NM_030622.8(CYP2S1):c.1453C>T (p.Pro485Ser)	CYP2S1 (P485S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376929	NM_030622.8(CYP2S1):c.1467G>C (p.Gln489His)	CYP2S1 (Q489H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079583	NM_030622.8(CYP2S1):c.1478G>T (p.Arg493Leu)	CYP2S1 (R493L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358835	NM_030622.8(CYP2S1):c.1478G>A (p.Arg493His)	CYP2S1 (R493H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 816082	GRCh37/hg19 19q13.2(chr19:41304025-41928997)x3	B9D2, CYP2S1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 54