PPP1R18[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 786082	NM_133471.4(PPP1R18):c.1838G>A (p.Arg613Gln)	PPP1R18 (R613Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2542374	NM_133471.4(PPP1R18):c.1835G>A (p.Arg612Gln)	PPP1R18 (R612Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331626	NM_133471.4(PPP1R18):c.1835G>C (p.Arg612Pro)	PPP1R18 (R612P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309392	NM_133471.4(PPP1R18):c.1823A>G (p.Asp608Gly)	PPP1R18 (D608G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656339	NM_133471.4(PPP1R18):c.1743C>A (p.Asp581Glu)	PPP1R18 (D581E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2619815	NM_133471.4(PPP1R18):c.1711A>T (p.Ser571Cys)	PPP1R18 (S571C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492172	NM_133471.4(PPP1R18):c.1709C>T (p.Pro570Leu)	PPP1R18 (P570L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332409	NM_133471.4(PPP1R18):c.1666G>A (p.Glu556Lys)	PPP1R18 (E556K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367284	NM_133471.4(PPP1R18):c.1594G>A (p.Glu532Lys)	PPP1R18 (E532K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568547	NM_133471.4(PPP1R18):c.1525G>A (p.Ala509Thr)	PPP1R18 (A509T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619998	NM_133471.4(PPP1R18):c.1513C>T (p.Arg505Trp)	PPP1R18 (R505W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530645	NM_133471.4(PPP1R18):c.1433G>A (p.Arg478Gln)	PPP1R18 (R478Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402346	NM_133471.4(PPP1R18):c.1429C>T (p.Arg477Trp)	PPP1R18 (R477W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232917	NM_133471.4(PPP1R18):c.1424A>G (p.Asn475Ser)	PPP1R18 (N475S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217545	NM_133471.4(PPP1R18):c.1400G>T (p.Arg467Leu)	PPP1R18 (R467L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283696	NM_133471.4(PPP1R18):c.1396C>T (p.Arg466Cys)	PPP1R18 (R466C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533034	NM_133471.4(PPP1R18):c.1301C>G (p.Pro434Arg)	PPP1R18 (P434R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217544	NM_133471.4(PPP1R18):c.1216G>C (p.Glu406Gln)	PPP1R18 (E406Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373566	NM_133471.4(PPP1R18):c.1165C>T (p.Pro389Ser)	PPP1R18 (P389S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217543	NM_133471.4(PPP1R18):c.1159G>A (p.Gly387Ser)	PPP1R18 (G387S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3217542	NM_133471.4(PPP1R18):c.1132G>A (p.Ala378Thr)	PPP1R18 (A378T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217540	NM_133471.4(PPP1R18):c.1097T>G (p.Leu366Arg)	PPP1R18 (L366R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716886	NM_133471.4(PPP1R18):c.1067C>T (p.Pro356Leu)	PPP1R18 (P356L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2546007	NM_133471.4(PPP1R18):c.1007T>G (p.Leu336Arg)	PPP1R18 (L336R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309391	NM_133471.4(PPP1R18):c.953C>T (p.Pro318Leu)	PPP1R18 (P318L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601574	NM_133471.4(PPP1R18):c.850G>A (p.Val284Ile)	PPP1R18 (V284I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2556826	NM_133471.4(PPP1R18):c.809A>G (p.Gln270Arg)	PPP1R18 (Q270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219285	NM_133471.4(PPP1R18):c.668T>C (p.Leu223Pro)	PPP1R18 (L223P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217548	NM_133471.4(PPP1R18):c.605G>A (p.Arg202Gln)	PPP1R18 (R202Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307430	NM_133471.4(PPP1R18):c.604C>T (p.Arg202Trp)	PPP1R18 (R202W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604251	NM_133471.4(PPP1R18):c.557T>G (p.Leu186Arg)	PPP1R18 (L186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557351	NM_133471.4(PPP1R18):c.508C>G (p.Arg170Gly)	PPP1R18 (R170G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217547	NM_133471.4(PPP1R18):c.419G>A (p.Arg140Lys)	PPP1R18 (R140K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732757	NM_133471.4(PPP1R18):c.388C>T (p.Arg130Trp)	PPP1R18 (R130W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3309390	NM_133471.4(PPP1R18):c.341C>G (p.Pro114Arg)	PPP1R18 (P114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309388	NM_133471.4(PPP1R18):c.335G>A (p.Arg112Lys)	PPP1R18 (R112K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330673	NM_133471.4(PPP1R18):c.310C>T (p.Arg104Trp)	PPP1R18 (R104W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365815	NM_133471.4(PPP1R18):c.284G>A (p.Arg95Gln)	PPP1R18 (R95Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549828	NM_133471.4(PPP1R18):c.266G>A (p.Arg89Gln)	PPP1R18 (R89Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393761	NM_133471.4(PPP1R18):c.258C>G (p.His86Gln)	PPP1R18 (H86Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309393	NM_133471.4(PPP1R18):c.227C>T (p.Ala76Val)	PPP1R18 (A76V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309389	NM_133471.4(PPP1R18):c.214C>T (p.Pro72Ser)	PPP1R18 (P72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217816	NM_133471.4(PPP1R18):c.101C>G (p.Ser34Cys)	PPP1R18 (S34C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397016	NM_133471.4(PPP1R18):c.89G>A (p.Arg30Gln)	PPP1R18 (R30Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217549	NM_133471.4(PPP1R18):c.64G>A (p.Val22Ile)	PPP1R18 (V22I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236340	NM_133471.4(PPP1R18):c.64G>C (p.Val22Leu)	PPP1R18 (V22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217541	NM_133471.4(PPP1R18):c.10A>G (p.Ile4Val)	PPP1R18 (I4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062937	GRCh37/hg19 6p21.33(chr6:30629521-30962674)x3	DDR1, DHX16 +11 more	Copy number gain	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
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

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Items: 53