9277[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 57542	GRCh38/hg38 17q23.1-23.2(chr17:60043448-62148729)x1	APPBP2, APPBP2-DT +61 more	Copy number loss	See cases	GPathogenic
Select item 57455	GRCh38/hg38 17q23.1-23.2(chr17:60095339-62237942)x1	APPBP2, APPBP2-DT +56 more	Copy number loss	See cases	GPathogenic
Select item 146527	GRCh38/hg38 17q23.2(chr17:60255192-62237942)x1	APPBP2, APPBP2-DT +49 more	Copy number loss	See cases	GPathogenic
Select item 1231904	NC_000017.11:g.60599897G>C	PPM1D	Single nucleotide variant	not provided	GBenign
Select item 1287274	NC_000017.11:g.60600041C>G	PPM1D	Single nucleotide variant	not provided	GBenign
Select item 1297794	NC_000017.11:g.60600186del	PPM1D	Deletion	not provided	GBenign
Select item 1278802	NM_003620.4(PPM1D):c.-196T>C	PPM1D	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2882492	NM_003620.4(PPM1D):c.9G>C (p.Gly3=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2148277	NM_003620.4(PPM1D):c.24A>G (p.Gly8=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852989	NM_003620.4(PPM1D):c.51G>A (p.Gly17=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889859	NM_003620.4(PPM1D):c.72T>C (p.Val24=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057044	NM_003620.4(PPM1D):c.78A>G (p.Gln26=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915688	NM_003620.4(PPM1D):c.78A>C (p.Gln26His)	PPM1D (Q26H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699565	NM_003620.4(PPM1D):c.81C>G (p.Ile27Met)	PPM1D (I27M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710417	NM_003620.4(PPM1D):c.83T>C (p.Val28Ala)	PPM1D (V28A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1277034	NM_003620.4(PPM1D):c.90G>A (p.Glu30=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3027143	NM_003620.4(PPM1D):c.101C>T (p.Thr34Met)	PPM1D (T34M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965410	NM_003620.4(PPM1D):c.112A>C (p.Lys38Gln)	PPM1D (K38Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2877391	NM_003620.4(PPM1D):c.112A>G (p.Lys38Glu)	PPM1D (K38E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188484	NM_003620.4(PPM1D):c.128G>A (p.Arg43Gln)	PPM1D (R43Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049549	NM_003620.4(PPM1D):c.131C>G (p.Ser44Trp)	PPM1D (S44W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3067772	NM_003620.4(PPM1D):c.134T>A (p.Leu45Gln)	PPM1D (L45Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029733	NM_003620.4(PPM1D):c.134T>C (p.Leu45Pro)	PPM1D (L45P)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GUncertain significance
Select item 2181288	NM_003620.4(PPM1D):c.137C>G (p.Ser46Cys)	PPM1D (S46C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1506954	NM_003620.4(PPM1D):c.147G>C (p.Leu49Phe)	PPM1D (L49F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2726603	NM_003620.4(PPM1D):c.148C>T (p.Pro50Ser)	PPM1D (P50S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2241411	NM_003620.4(PPM1D):c.160T>G (p.Ser54Ala)	PPM1D (S54A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217076	NM_003620.4(PPM1D):c.167C>G (p.Ala56Gly)	PPM1D (A56G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2850536	NM_003620.4(PPM1D):c.172C>T (p.Leu58Phe)	PPM1D (L58F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074837	NM_003620.4(PPM1D):c.172C>G (p.Leu58Val)	PPM1D (L58V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2146371	NM_003620.4(PPM1D):c.179G>A (p.Gly60Asp)	PPM1D (G60D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2730844	NM_003620.4(PPM1D):c.183C>T (p.Gly61=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 702649	NM_003620.4(PPM1D):c.192G>C (p.Ser64=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672703	NM_003620.4(PPM1D):c.194G>A (p.Gly65Glu)	PPM1D (G65E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2724792	NM_003620.4(PPM1D):c.207G>T (p.Ala69=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053081	NM_003620.4(PPM1D):c.233C>T (p.Pro78Leu)	PPM1D (P78L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 696501	NM_003620.4(PPM1D):c.234T>A (p.Pro78=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 695416	NM_003620.4(PPM1D):c.244G>T (p.Ala82Ser)	PPM1D (A82S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2039049	NM_003620.4(PPM1D):c.246C>G (p.Ala82=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2445324	NM_003620.4(PPM1D):c.247G>T (p.Gly83Trp)	PPM1D (G83W)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2742034	NM_003620.4(PPM1D):c.251C>T (p.Ala84Val)	PPM1D (A84V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150960	NM_003620.4(PPM1D):c.257C>T (p.Pro86Leu)	PPM1D (P86L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 695774	NM_003620.4(PPM1D):c.257C>A (p.Pro86Gln)	PPM1D (P86Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 696660	NM_003620.4(PPM1D):c.262C>T (p.Pro88Ser)	PPM1D (P88S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2703945	NM_003620.4(PPM1D):c.263C>T (p.Pro88Leu)	PPM1D (P88L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2713507	NM_003620.4(PPM1D):c.267C>T (p.Ser89=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1341773	NM_003620.4(PPM1D):c.267C>G (p.Ser89Arg)	PPM1D (S89R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2807093	NM_003620.4(PPM1D):c.268C>G (p.Arg90Gly)	PPM1D (R90G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2153642	NM_003620.4(PPM1D):c.271TGC[3] (p.Cys92_Arg93insCys)	PPM1D	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2112245	NM_003620.4(PPM1D):c.269G>C (p.Arg90Pro)	PPM1D (R90P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162673	NM_003620.4(PPM1D):c.281G>A (p.Arg94His)	PPM1D (R94H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900630	NM_003620.4(PPM1D):c.285T>C (p.Arg95=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414787	NM_003620.4(PPM1D):c.304G>A (p.Ala102Thr)	PPM1D (A102T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2489097	NM_003620.4(PPM1D):c.349C>G (p.Arg117Gly)	PPM1D (R117G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3009828	NM_003620.4(PPM1D):c.351G>A (p.Arg117=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1031347	NM_003620.4(PPM1D):c.356A>G (p.His119Arg)	PPM1D (H119R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GUncertain significance
Select item 3016434	NM_003620.4(PPM1D):c.399C>T (p.Ser133=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800441	NM_003620.4(PPM1D):c.417C>T (p.Cys139=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832495	NM_003620.4(PPM1D):c.426C>T (p.Ile142=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 695348	NM_003620.4(PPM1D):c.439C>G (p.Leu147Val)	PPM1D (L147V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2143355	NM_003620.4(PPM1D):c.454G>A (p.Ala152Thr)	PPM1D (A152T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259103	NM_003620.4(PPM1D):c.456C>T (p.Ala152=)	PPM1D	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2780559	NM_003620.4(PPM1D):c.472+9C>T	PPM1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2506295	NM_003620.4(PPM1D):c.472+18T>C	PPM1D	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 223935	NM_003620.4(PPM1D):c.472+77G>A	PPM1D	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223927	NM_003620.4(PPM1D):c.472+314G>A	PPM1D	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1266122	NM_003620.4(PPM1D):c.472+342G>C	PPM1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 223936	NM_003620.4(PPM1D):c.472+1152A>G	PPM1D	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223939	NM_003620.4(PPM1D):c.472+4585C>T	PPM1D	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223937	NM_003620.4(PPM1D):c.473-1294T>C	PPM1D	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1926411	NM_003620.4(PPM1D):c.474G>C (p.Ala158=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183177	NM_003620.4(PPM1D):c.489T>C (p.Thr163=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2141504	NM_003620.4(PPM1D):c.491T>A (p.Met164Lys)	PPM1D (M164K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803978	NM_003620.4(PPM1D):c.494C>T (p.Thr165Met)	PPM1D (T165M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2205650	NM_003620.4(PPM1D):c.541C>T (p.Arg181Trp)	LOC129390907, PPM1D (R181W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2152928	NM_003620.4(PPM1D):c.567C>T (p.His189=)	LOC129390907, PPM1D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2893236	NM_003620.4(PPM1D):c.585G>T (p.Val195=)	LOC129390907, PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2149824	NM_003620.4(PPM1D):c.636G>A (p.Glu212=)	LOC129390907, PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003201	NM_003620.4(PPM1D):c.657A>G (p.Pro219=)	LOC129390907, PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856286	NM_003620.4(PPM1D):c.663T>G (p.Leu221=)	LOC129390907, PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672704	NM_003620.4(PPM1D):c.672A>G (p.Glu224=)	LOC129390907, PPM1D	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2167594	NM_003620.4(PPM1D):c.701+7T>G	PPM1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2098075	NM_003620.4(PPM1D):c.701+14G>A	PPM1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279272	NM_003620.4(PPM1D):c.701+82G>C	PPM1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 223928	NM_003620.4(PPM1D):c.701+366C>T	PPM1D	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223934	NM_003620.4(PPM1D):c.701+3346A>G	PPM1D	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223938	NM_003620.4(PPM1D):c.702-3299C>T	PPM1D	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223929	NM_003620.4(PPM1D):c.702-2064T>C	PPM1D	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1289641	NM_003620.4(PPM1D):c.702-279G>T	PPM1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237361	NM_003620.4(PPM1D):c.702-137C>T	PPM1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 223926	NM_003620.4(PPM1D):c.702-21A>G	PPM1D	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1985001	NM_003620.4(PPM1D):c.706A>G (p.Met236Val)	PPM1D (M236V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435221	NM_003620.4(PPM1D):c.756_759del (p.His253fs)	PPM1D (H253fs)	Microsatellite (frameshift variant)	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	GUncertain significance
Select item 1685033	NM_003620.4(PPM1D):c.811G>A (p.Val271Ile)	PPM1D (V271I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1222145	NM_003620.4(PPM1D):c.826+214T>A	PPM1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248023	NM_003620.4(PPM1D):c.827-12C>A	PPM1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2723524	NM_003620.4(PPM1D):c.873A>C (p.Ser291=)	PPM1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915808	NM_003620.4(PPM1D):c.928A>G (p.Ile310Val)	PPM1D (I310V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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