PPM1K[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
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 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
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 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 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 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 1387128	NM_152542.5(PPM1K):c.1057A>G (p.Lys353Glu)	PPM1K (K353E)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant +1 more	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 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 664284	NM_152542.5(PPM1K):c.988-7C>G	PPM1K	Single nucleotide variant (intron 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 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 755948	NM_152542.5(PPM1K):c.987+9G>A	PPM1K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 473876	NM_152542.5(PPM1K):c.978G>A (p.Val326=)	PPM1K	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3038532	NM_152542.5(PPM1K):c.975G>A (p.Ala325=)	PPM1K	Single nucleotide variant (synonymous variant)	PPM1K-related disorder	GLikely benign
Select item 1000474	NM_152542.5(PPM1K):c.974C>T (p.Ala325Val)	PPM1K (A325V)	Single nucleotide variant (missense variant)	not specified +1 more	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 857355	NM_152542.5(PPM1K):c.971A>G (p.His324Arg)	PPM1K (H324R)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 775998	NM_152542.5(PPM1K):c.961G>A (p.Glu321Lys)	PPM1K (E321K)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 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 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 1082206	NM_152542.5(PPM1K):c.858T>G (p.His286Gln)	PPM1K (H286Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 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 2285960	NM_152542.5(PPM1K):c.838A>T (p.Thr280Ser)	PPM1K (T280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307685	NM_152542.5(PPM1K):c.782C>A (p.Thr261Lys)	PPM1K (T261K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226799	NM_152542.5(PPM1K):c.776C>T (p.Ala259Val)	PPM1K (A259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217364	NM_152542.5(PPM1K):c.760G>C (p.Val254Leu)	PPM1K (V254L)	Single nucleotide variant (missense variant)	not specified	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 793324	NM_152542.5(PPM1K):c.759C>T (p.His253=)	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 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 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 729996	NM_152542.5(PPM1K):c.708-5A>G	PPM1K	Single nucleotide variant (intron variant)	Maple syrup urine disease, mild variant	GLikely benign
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 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 1167226	NM_152542.5(PPM1K):c.707+7C>T	PPM1K	Single nucleotide variant (intron variant)	Maple syrup urine disease, mild variant	GBenign
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 3309283	NM_152542.5(PPM1K):c.696T>G (p.Asp232Glu)	PPM1K (D232E)	Single nucleotide variant (missense variant)	not specified	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 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 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 792280	NM_152542.5(PPM1K):c.657C>T (p.Pro219=)	PPM1K	Single nucleotide variant (synonymous variant)	not provided	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 2352601	NM_152542.5(PPM1K):c.641G>A (p.Cys214Tyr)	PPM1K (C214Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791728	NM_152542.5(PPM1K):c.629G>A (p.Arg210Gln)	PPM1K (R210Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 3309282	NM_152542.5(PPM1K):c.614G>A (p.Ser205Asn)	PPM1K (S205N)	Single nucleotide variant (missense variant)	not specified	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 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 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 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 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 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 3034408	NM_152542.5(PPM1K):c.580C>T (p.Leu194=)	PPM1K	Single nucleotide variant (synonymous variant)	PPM1K-related disorder	GLikely benign
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 +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 14009	GRCh38/hg38 4q22.1(chr4:88504598-90127832)x3	CCSER1, FAM13A +43 more	Copy number gain	Autosomal dominant Parkinson disease 4	GPathogenic
Select item 655372	NM_152542.5(PPM1K):c.542-3T>C	PPM1K	Single nucleotide variant (intron 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 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 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 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
Select item 757668	NM_152542.5(PPM1K):c.525C>T (p.Ala175=)	PPM1K	Single nucleotide variant (synonymous variant)	Maple syrup urine disease, mild variant	GLikely benign
Select item 2160519	NM_152542.5(PPM1K):c.515C>T (p.Ser172Leu)	PPM1K (S172L)	Single nucleotide variant (missense variant)	not provided +1 more	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 580759	NM_152542.5(PPM1K):c.509C>A (p.Ala170Asp)	PPM1K (A170D)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 2272746	NM_152542.5(PPM1K):c.499A>G (p.Ile167Val)	PPM1K (I167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 473875	NM_152542.5(PPM1K):c.481A>G (p.Thr161Ala)	PPM1K (T161A)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GBenign
Select item 860430	NM_152542.5(PPM1K):c.475C>G (p.Leu159Val)	PPM1K (L159V)	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 714645	NM_152542.5(PPM1K):c.459G>A (p.Glu153=)	PPM1K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1644190	NM_152542.5(PPM1K):c.441-7del	PPM1K	Deletion (intron variant)	Maple syrup urine disease, mild variant	GBenign
Select item 2282522	NM_152542.5(PPM1K):c.436A>G (p.Ile146Val)	PPM1K (I146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 41439	NM_152542.5(PPM1K):c.417_418del (p.Thr140fs)	PPM1K (T140fs)	Deletion (frameshift variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 2464130	NM_152542.5(PPM1K):c.395C>G (p.Pro132Arg)	PPM1K (P132R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053642	NM_152542.5(PPM1K):c.390T>C (p.Gly130=)	PPM1K	Single nucleotide variant (synonymous variant)	PPM1K-related disorder	GLikely benign
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 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 2906530	NM_152542.5(PPM1K):c.352G>C (p.Asp118His)	PPM1K (D118H)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant +1 more	GUncertain significance
Select item 473874	NM_152542.5(PPM1K):c.339C>T (p.Phe113=)	PPM1K	Single nucleotide variant (synonymous variant)	Maple syrup urine disease, mild variant +1 more	GBenign
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 835720	NM_152542.5(PPM1K):c.311G>A (p.Arg104Gln)	PPM1K (R104Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 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 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 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 2198399	NM_152542.5(PPM1K):c.259A>G (p.Ile87Val)	PPM1K (I87V)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant +1 more	GUncertain significance
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 2543938	NM_152542.5(PPM1K):c.236C>T (p.Pro79Leu)	PPM1K (P79L)	Single nucleotide variant (missense variant)	not specified	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

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