ClinVar for Gene (Select 5514) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309313	NM_002714.4(PPP1R10):c.2213G>A (p.Arg738Gln)	PPP1R10 (R738Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309312	NM_002714.4(PPP1R10):c.1994G>A (p.Arg665His)	PPP1R10 (R665H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309311	NM_002714.4(PPP1R10):c.2345G>A (p.Arg782His)	PPP1R10 (R782H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217401	NM_002714.4(PPP1R10):c.62G>A (p.Arg21Gln)	LOC126859644, PPP1R10 (R21Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217400	NM_002714.4(PPP1R10):c.413G>T (p.Ser138Ile)	PPP1R10 (S138I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217399	NM_002714.4(PPP1R10):c.2422A>C (p.Ser808Arg)	PPP1R10 (S808R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217398	NM_002714.4(PPP1R10):c.2314G>C (p.Gly772Arg)	PPP1R10 (G772R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217397	NM_002714.4(PPP1R10):c.2083G>C (p.Gly695Arg)	PPP1R10 (G695R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217395	NM_002714.4(PPP1R10):c.1784A>G (p.His595Arg)	PPP1R10 (H595R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217394	NM_002714.4(PPP1R10):c.1448G>A (p.Arg483Gln)	PPP1R10 (R483Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656336	NM_002714.4(PPP1R10):c.1086G>A (p.Pro362=)	PPP1R10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2623487	NM_002714.4(PPP1R10):c.191T>C (p.Val64Ala)	PPP1R10 (V64A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2615271	NM_002714.4(PPP1R10):c.458C>T (p.Ala153Val)	PPP1R10 (A153V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608930	NM_002714.4(PPP1R10):c.2717T>C (p.Met906Thr)	PPP1R10 (M906T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598549	NM_002714.4(PPP1R10):c.2684G>A (p.Gly895Glu)	PPP1R10 (G895E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2563714	NM_002714.4(PPP1R10):c.2048C>T (p.Pro683Leu)	PPP1R10 (P683L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560455	NM_002714.4(PPP1R10):c.2275G>A (p.Gly759Arg)	PPP1R10 (G759R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545684	NM_002714.4(PPP1R10):c.2606G>A (p.Gly869Asp)	PPP1R10 (G869D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543119	NM_002714.4(PPP1R10):c.2015C>T (p.Pro672Leu)	PPP1R10 (P672L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538119	NM_002714.4(PPP1R10):c.935T>C (p.Leu312Pro)	PPP1R10 (L312P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531233	NM_002714.4(PPP1R10):c.106A>G (p.Ser36Gly)	LOC126859644, PPP1R10 (S36G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530974	NM_002714.4(PPP1R10):c.1208A>C (p.Glu403Ala)	PPP1R10 (E403A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496127	NM_002714.4(PPP1R10):c.1103C>T (p.Ala368Val)	PPP1R10 (A368V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469080	NM_002714.4(PPP1R10):c.2578C>T (p.Arg860Trp)	PPP1R10 (R860W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2429034	NM_002714.4(PPP1R10):c.-532-1G>C	PPP1R10	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2355924	NM_002714.4(PPP1R10):c.745G>A (p.Val249Ile)	PPP1R10 (V249I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2352602	NM_002714.4(PPP1R10):c.2408C>T (p.Pro803Leu)	PPP1R10 (P803L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345504	NM_002714.4(PPP1R10):c.2624C>T (p.Pro875Leu)	PPP1R10 (P875L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340505	NM_002714.4(PPP1R10):c.2584C>T (p.His862Tyr)	PPP1R10 (H862Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339105	NM_002714.4(PPP1R10):c.1727G>C (p.Gly576Ala)	PPP1R10 (G576A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2336496	NM_002714.4(PPP1R10):c.2183G>T (p.Gly728Val)	PPP1R10 (G728V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329221	NM_002714.4(PPP1R10):c.1171C>T (p.Arg391Trp)	PPP1R10 (R391W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313061	NM_002714.4(PPP1R10):c.1135C>G (p.Pro379Ala)	PPP1R10 (P379A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300084	NM_002714.4(PPP1R10):c.1569T>G (p.Asp523Glu)	PPP1R10 (D523E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291979	NM_002714.4(PPP1R10):c.1436A>G (p.Asn479Ser)	PPP1R10 (N479S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289003	NM_002714.4(PPP1R10):c.2078G>T (p.Arg693Leu)	PPP1R10 (R693L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275221	NM_002714.4(PPP1R10):c.2356G>T (p.Gly786Cys)	PPP1R10 (G786C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252273	NM_002714.4(PPP1R10):c.1808A>C (p.Gln603Pro)	PPP1R10 (Q603P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248179	NM_002714.4(PPP1R10):c.1393C>T (p.Arg465Trp)	PPP1R10 (R465W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245418	NM_002714.4(PPP1R10):c.558G>C (p.Glu186Asp)	PPP1R10 (E186D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242951	NM_002714.4(PPP1R10):c.1861G>A (p.Gly621Ser)	PPP1R10 (G621S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224492	NM_002714.4(PPP1R10):c.2014C>T (p.Pro672Ser)	PPP1R10 (P672S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214097	NM_002714.4(PPP1R10):c.1085C>T (p.Pro362Leu)	PPP1R10 (P362L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1705028	NM_002714.4(PPP1R10):c.1295C>T (p.Ala432Val)	PPP1R10 (A432V)	Single nucleotide variant (missense variant +1 more)	Generalized muscle weakness +3 more	GUncertain significance
Select item 1276843	NM_002714.4(PPP1R10):c.2052C>T (p.Gly684=)	PPP1R10	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 790728	NM_002714.4(PPP1R10):c.635-3C>T	PPP1R10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 712614	NM_002714.4(PPP1R10):c.285A>G (p.Leu95=)	PPP1R10	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 53