ClinVar for Gene (Select 152926) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	not specified	GPathogenic
Select item 3062760	GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3	ABCG2, AFF1 +40 more	Copy number gain	not specified	GLikely pathogenic
Select item 3053642	NM_152542.5(PPM1K):c.390T>C (p.Gly130=)	PPM1K	Single nucleotide variant (synonymous variant)	PPM1K-related condition	GLikely benign
Select item 3038532	NM_152542.5(PPM1K):c.975G>A (p.Ala325=)	PPM1K	Single nucleotide variant (synonymous variant)	PPM1K-related condition	GLikely benign
Select item 3034408	NM_152542.5(PPM1K):c.580C>T (p.Leu194=)	PPM1K	Single nucleotide variant (synonymous variant)	PPM1K-related condition	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3009463	NM_152542.5(PPM1K):c.853-9T>G	PPM1K	Single nucleotide variant (intron variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 3000993	NM_152542.5(PPM1K):c.155C>T (p.Pro52Leu)	PPM1K (P52L)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 2990309	NM_152542.5(PPM1K):c.453T>C (p.Pro151=)	PPM1K	Single nucleotide variant (synonymous variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 2983966	NM_152542.5(PPM1K):c.726T>G (p.Gly242=)	PPM1K	Single nucleotide variant (synonymous variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 2910437	NM_152542.5(PPM1K):c.248A>T (p.Tyr83Phe)	PPM1K (Y83F)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 2906530	NM_152542.5(PPM1K):c.352G>C (p.Asp118His)	PPM1K (D118H)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 2903053	NM_152542.5(PPM1K):c.90C>T (p.Asp30=)	PPM1K	Single nucleotide variant (synonymous variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 2887844	NM_152542.5(PPM1K):c.300G>A (p.Gln100=)	PPM1K	Single nucleotide variant (synonymous variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 2881512	NM_152542.5(PPM1K):c.680C>T (p.Thr227Ile)	PPM1K (T227I)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 2851213	NM_152542.5(PPM1K):c.690A>G (p.Arg230=)	PPM1K	Single nucleotide variant (synonymous variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 2817063	NM_152542.5(PPM1K):c.1100C>G (p.Ser367Cys)	PPM1K (S367C)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 2812529	NM_152542.5(PPM1K):c.235C>A (p.Pro79Thr)	PPM1K (P79T)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 2804195	NM_152542.5(PPM1K):c.917G>C (p.Ser306Thr)	PPM1K (S306T)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 2784147	NM_152542.5(PPM1K):c.988-15T>A	PPM1K	Single nucleotide variant (intron variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 2775872	NM_152542.5(PPM1K):c.925A>G (p.Ile309Val)	PPM1K (I309V)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 2747217	NM_152542.5(PPM1K):c.97C>T (p.Arg33Trp)	PPM1K (R33W)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 2721804	NM_152542.5(PPM1K):c.592G>T (p.Gly198Cys)	PPM1K (G198C)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 2714370	NM_152542.5(PPM1K):c.209G>A (p.Arg70His)	PPM1K (R70H)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 2602568	NM_152542.5(PPM1K):c.328C>T (p.Arg110Trp)	PPM1K (R110W)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant +1 more	GUncertain significance
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 2564276	NM_152542.5(PPM1K):c.232C>T (p.Pro78Ser)	PPM1K (P78S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543938	NM_152542.5(PPM1K):c.236C>T (p.Pro79Leu)	PPM1K (P79L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464130	NM_152542.5(PPM1K):c.395C>G (p.Pro132Arg)	PPM1K (P132R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352601	NM_152542.5(PPM1K):c.641G>A (p.Cys214Tyr)	PPM1K (C214Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337822	NM_152542.5(PPM1K):c.227T>C (p.Leu76Pro)	PPM1K (L76P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307685	NM_152542.5(PPM1K):c.782C>A (p.Thr261Lys)	PPM1K (T261K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285960	NM_152542.5(PPM1K):c.838A>T (p.Thr280Ser)	PPM1K (T280S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282522	NM_152542.5(PPM1K):c.436A>G (p.Ile146Val)	PPM1K (I146V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281414	NM_152542.5(PPM1K):c.61G>A (p.Val21Met)	PPM1K (V21M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272746	NM_152542.5(PPM1K):c.499A>G (p.Ile167Val)	PPM1K (I167V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226799	NM_152542.5(PPM1K):c.776C>T (p.Ala259Val)	PPM1K (A259V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2198399	NM_152542.5(PPM1K):c.259A>G (p.Ile87Val)	PPM1K (I87V)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 2195923	NM_152542.5(PPM1K):c.387C>T (p.His129=)	PPM1K	Single nucleotide variant (synonymous variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 2193259	NM_152542.5(PPM1K):c.757C>T (p.His253Tyr)	PPM1K (H253Y)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 2162592	NM_152542.5(PPM1K):c.1034C>T (p.Pro345Leu)	PPM1K (P345L)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 2160519	NM_152542.5(PPM1K):c.515C>T (p.Ser172Leu)	PPM1K (S172L)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 2153548	NM_152542.5(PPM1K):c.760G>A (p.Val254Ile)	PPM1K (V254I)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 2153183	NM_152542.5(PPM1K):c.852+14T>C	PPM1K	Single nucleotide variant (intron variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 2142117	NM_152542.5(PPM1K):c.707+15G>A	PPM1K	Single nucleotide variant (intron variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 2141511	NM_152542.5(PPM1K):c.308A>G (p.Lys103Arg)	PPM1K (K103R)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant +1 more	GUncertain significance
Select item 2111001	NM_152542.5(PPM1K):c.542C>T (p.Ala181Val)	PPM1K (A181V)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 2108619	NM_152542.5(PPM1K):c.621G>A (p.Gly207=)	PPM1K	Single nucleotide variant (synonymous variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 2099392	NM_152542.5(PPM1K):c.647A>G (p.Lys216Arg)	PPM1K (K216R)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 2091210	NM_152542.5(PPM1K):c.510C>T (p.Ala170=)	PPM1K	Single nucleotide variant (synonymous variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 2077625	NM_152542.5(PPM1K):c.702A>G (p.Lys234=)	PPM1K	Single nucleotide variant (synonymous variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 2046368	NM_152542.5(PPM1K):c.292G>A (p.Ala98Thr)	PPM1K (A98T)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 2013826	NM_152542.5(PPM1K):c.888C>T (p.Thr296=)	PPM1K	Single nucleotide variant (synonymous variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 1982883	NM_152542.5(PPM1K):c.188A>G (p.Asn63Ser)	PPM1K (N63S)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 1974989	NM_152542.5(PPM1K):c.1096G>T (p.Ala366Ser)	PPM1K (A366S)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 1963097	NM_152542.5(PPM1K):c.542-9T>C	PPM1K	Single nucleotide variant (intron variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 1659670	NM_152542.5(PPM1K):c.1080A>G (p.Ser360=)	PPM1K	Single nucleotide variant (synonymous variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 1644190	NM_152542.5(PPM1K):c.441-7del	PPM1K	Deletion (intron variant)	Maple syrup urine disease, mild variant	GBenign
Select item 1598232	NM_152542.5(PPM1K):c.960C>T (p.Asn320=)	PPM1K	Single nucleotide variant (synonymous variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 1580410	NM_152542.5(PPM1K):c.600A>G (p.Glu200=)	PPM1K	Single nucleotide variant (synonymous variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 1554540	NM_152542.5(PPM1K):c.987+9G>C	PPM1K	Single nucleotide variant (intron variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 1527108	GRCh37/hg19 4q21.23-22.1(chr4:85839771-93071150)	ABCG2, AFF1 +31 more	Copy number loss	not specified	GPathogenic
Select item 1527103	GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421)	ABCG2, ABRAXAS1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1527100	GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)	ABCG2, ABRAXAS1 +63 more	Copy number loss	not specified	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1524153	NM_152542.5(PPM1K):c.118A>C (p.Ser40Arg)	PPM1K (S40R)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 1513815	NM_152542.5(PPM1K):c.1055A>G (p.Tyr352Cys)	PPM1K (Y352C)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 1498675	NM_152542.5(PPM1K):c.670A>G (p.Ile224Val)	PPM1K (I224V)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 1479838	NM_152542.5(PPM1K):c.527G>A (p.Arg176His)	PPM1K (R176H)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 1470917	NM_152542.5(PPM1K):c.595A>G (p.Ile199Val)	PPM1K (I199V)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 1469206	NM_152542.5(PPM1K):c.973G>A (p.Ala325Thr)	PPM1K (A325T)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 1464285	NM_152542.5(PPM1K):c.48G>T (p.Gln16His)	PPM1K (Q16H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1430991	NM_152542.5(PPM1K):c.526C>G (p.Arg176Gly)	PPM1K (R176G)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 1427573	NM_152542.5(PPM1K):c.554C>A (p.Thr185Asn)	PPM1K (T185N)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 1407922	NM_152542.5(PPM1K):c.66G>A (p.Leu22=)	PPM1K	Single nucleotide variant (synonymous variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 1406700	NM_152542.5(PPM1K):c.110C>T (p.Thr37Met)	PPM1K (T37M)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 1400482	NM_152542.5(PPM1K):c.145C>T (p.Arg49Trp)	PPM1K (R49W)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 1387128	NM_152542.5(PPM1K):c.1057A>G (p.Lys353Glu)	PPM1K (K353E)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 1380419	NM_152542.5(PPM1K):c.730G>A (p.Val244Ile)	PPM1K (V244I)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 1372229	NM_152542.5(PPM1K):c.601C>G (p.Leu201Val)	PPM1K (L201V)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 1341211	GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1	ABCG2, ABRAXAS1 +58 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1168507	NM_152542.5(PPM1K):c.708-116C>T	PPM1K	Single nucleotide variant (intron variant)	Maple syrup urine disease, mild variant	GBenign
Select item 1168341	NM_152542.5(PPM1K):c.708-169G>A	PPM1K	Single nucleotide variant (intron variant)	Maple syrup urine disease, mild variant	GBenign
Select item 1167226	NM_152542.5(PPM1K):c.707+7C>T	PPM1K	Single nucleotide variant (intron variant)	Maple syrup urine disease, mild variant	GBenign
Select item 1166431	NM_152542.5(PPM1K):c.294C>T (p.Ala98=)	PPM1K	Single nucleotide variant (synonymous variant)	Maple syrup urine disease, mild variant	GBenign
Select item 1161260	NM_152542.5(PPM1K):c.54A>G (p.Arg18=)	PPM1K	Single nucleotide variant (synonymous variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 1160032	NM_152542.5(PPM1K):c.174A>G (p.Pro58=)	PPM1K	Single nucleotide variant (synonymous variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 1159293	NM_152542.5(PPM1K):c.582A>G (p.Leu194=)	PPM1K	Single nucleotide variant (synonymous variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 1082206	NM_152542.5(PPM1K):c.858T>G (p.His286Gln)	PPM1K (H286Q)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 1058047	NM_152542.5(PPM1K):c.1075T>A (p.Phe359Ile)	PPM1K (F359I)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 1051463	NM_152542.5(PPM1K):c.47A>C (p.Gln16Pro)	PPM1K (Q16P)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 1048809	NM_152542.5(PPM1K):c.469G>A (p.Glu157Lys)	PPM1K (E157K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1046955	NM_152542.5(PPM1K):c.77G>A (p.Arg26His)	PPM1K (R26H)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 1038220	NM_152542.5(PPM1K):c.587G>A (p.Arg196Gln)	PPM1K (R196Q)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 1001639	NM_152542.5(PPM1K):c.208C>T (p.Arg70Cys)	PPM1K (R70C)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 1000474	NM_152542.5(PPM1K):c.974C>T (p.Ala325Val)	PPM1K (A325V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 976807	Single allele	DMP1, ABCG2 +22 more	Deletion	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 949421	NM_152542.5(PPM1K):c.388G>A (p.Gly130Ser)	PPM1K (G130S)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 939984	NM_152542.5(PPM1K):c.526C>T (p.Arg176Cys)	PPM1K (R176C)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance

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