ClinVar for Gene (Select 23396) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365834	NM_012398.3(PIP5K1C):c.29_43del (p.Glu10_Ala14del)	PIP5K1C	Deletion	not provided	GUncertain significance
Select item 3363500	NM_012398.3(PIP5K1C):c.1242G>T (p.Lys414Asn)	PIP5K1C (K414N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359143	NM_012398.3(PIP5K1C):c.1640_1641insCTCC (p.Arg548fs)	PIP5K1C (R548fs)	Insertion (frameshift variant)	Lethal congenital contracture syndrome 3	GUncertain significance
Select item 3340944	NM_012398.3(PIP5K1C):c.625C>T (p.Leu209Phe)	PIP5K1C (L209F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3306700	NM_012398.3(PIP5K1C):c.1634A>T (p.Glu545Val)	PIP5K1C (E545V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306698	NM_012398.3(PIP5K1C):c.1468G>A (p.Asp490Asn)	PIP5K1C (D490N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306697	NM_012398.3(PIP5K1C):c.1465T>G (p.Tyr489Asp)	PIP5K1C (Y489D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306696	NM_012398.3(PIP5K1C):c.1121A>G (p.Asp374Gly)	PIP5K1C (D374G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306695	NM_012398.3(PIP5K1C):c.1979C>T (p.Pro660Leu)	PIP5K1C (P660L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3306694	NM_012398.3(PIP5K1C):c.1897G>A (p.Ala633Thr)	PIP5K1C (A633T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	APBA3, ATCAY +42 more	Deletion	RASopathy	GUncertain significance
Select item 3213187	NM_012398.3(PIP5K1C):c.7C>G (p.Leu3Val)	PIP5K1C (L3V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213186	NM_012398.3(PIP5K1C):c.676G>A (p.Val226Met)	PIP5K1C (V226M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213185	NM_012398.3(PIP5K1C):c.64G>A (p.Ala22Thr)	PIP5K1C (A22T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213184	NM_012398.3(PIP5K1C):c.605T>C (p.Leu202Pro)	PIP5K1C (L202P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213183	NM_012398.3(PIP5K1C):c.1999G>A (p.Asp667Asn)	PIP5K1C (D667N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3213182	NM_012398.3(PIP5K1C):c.1997G>A (p.Ser666Asn)	PIP5K1C (S666N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3213181	NM_012398.3(PIP5K1C):c.1988A>G (p.Asp663Gly)	PIP5K1C (D663G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3213180	NM_012398.3(PIP5K1C):c.1898C>T (p.Ala633Val)	PIP5K1C (A633V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213179	NM_012398.3(PIP5K1C):c.1888G>A (p.Glu630Lys)	PIP5K1C (E630K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213178	NM_012398.3(PIP5K1C):c.1753G>A (p.Val585Met)	PIP5K1C (V585M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213177	NM_012398.3(PIP5K1C):c.174G>C (p.Leu58Phe)	PIP5K1C (L58F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213176	NM_012398.3(PIP5K1C):c.1640C>T (p.Pro547Leu)	PIP5K1C (P547L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213175	NM_012398.3(PIP5K1C):c.1381G>A (p.Gly461Arg)	PIP5K1C (G461R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213174	NM_012398.3(PIP5K1C):c.1273G>A (p.Val425Ile)	PIP5K1C (V425I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213173	NM_012398.3(PIP5K1C):c.1012G>A (p.Ala338Thr)	PIP5K1C (A338T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213172	NM_012398.3(PIP5K1C):c.1009G>A (p.Gly337Ser)	PIP5K1C (G337S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063626	NM_012398.3(PIP5K1C):c.-1C>G	PIP5K1C	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3059157	NM_012398.3(PIP5K1C):c.1920+1422G>T	PIP5K1C (R691L)	Single nucleotide variant (missense variant +1 more)	PIP5K1C-related disorder	GBenign
Select item 3052505	NM_012398.3(PIP5K1C):c.*6A>G	PIP5K1C	Single nucleotide variant (3 prime UTR variant)	PIP5K1C-related disorder	GLikely benign
Select item 3052188	NM_012398.3(PIP5K1C):c.675C>T (p.Cys225=)	PIP5K1C	Single nucleotide variant (synonymous variant)	PIP5K1C-related disorder	GLikely benign
Select item 3051894	NM_012398.3(PIP5K1C):c.1920+1330G>C	PIP5K1C	Single nucleotide variant (synonymous variant +1 more)	PIP5K1C-related disorder	GLikely benign
Select item 3050718	NM_012398.3(PIP5K1C):c.1807G>A (p.Gly603Ser)	PIP5K1C (G603S)	Single nucleotide variant (missense variant)	PIP5K1C-related disorder	GBenign
Select item 3047026	NM_012398.3(PIP5K1C):c.1803G>A (p.Pro601=)	PIP5K1C	Single nucleotide variant (synonymous variant)	PIP5K1C-related disorder	GLikely benign
Select item 3046981	NM_012398.3(PIP5K1C):c.1113C>T (p.Ile371=)	PIP5K1C	Single nucleotide variant (synonymous variant)	PIP5K1C-related disorder	GLikely benign
Select item 3045610	NM_012398.3(PIP5K1C):c.1920+1430G>C	PIP5K1C (A694P)	Single nucleotide variant (missense variant +1 more)	PIP5K1C-related disorder	GLikely benign
Select item 3042074	NM_012398.3(PIP5K1C):c.1884G>A (p.Ser628=)	PIP5K1C	Single nucleotide variant (synonymous variant)	PIP5K1C-related disorder	GLikely benign
Select item 3040219	NM_012398.3(PIP5K1C):c.1920+1411C>T	PIP5K1C	Single nucleotide variant (synonymous variant +1 more)	PIP5K1C-related disorder	GBenign
Select item 3039197	NM_012398.3(PIP5K1C):c.350+8G>A	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3035643	NM_012398.3(PIP5K1C):c.543C>T (p.Ser181=)	PIP5K1C	Single nucleotide variant (synonymous variant)	PIP5K1C-related disorder	GLikely benign
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2672735	NM_012398.3(PIP5K1C):c.270C>T (p.Thr90=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649005	NM_012398.3(PIP5K1C):c.1854C>T (p.Asp618=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649004	NM_012398.3(PIP5K1C):c.1920+1372C>T	PIP5K1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2649003	NM_012398.3(PIP5K1C):c.1920+1426G>A	PIP5K1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2579600	NM_012398.3(PIP5K1C):c.1979dup (p.Ala661fs)	PIP5K1C (A661fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2577574	NM_012398.3(PIP5K1C):c.219G>C (p.Lys73Asn)	PIP5K1C (K73N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575024	NM_012398.3(PIP5K1C):c.791G>C (p.Ser264Thr)	PIP5K1C (S264T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2536807	NM_012398.3(PIP5K1C):c.82G>C (p.Gly28Arg)	PIP5K1C (G28R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526487	NM_012398.3(PIP5K1C):c.843G>C (p.Met281Ile)	PIP5K1C (M281I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2523937	NM_012398.3(PIP5K1C):c.1987G>A (p.Asp663Asn)	PIP5K1C (D663N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518260	NM_012398.3(PIP5K1C):c.121A>G (p.Thr41Ala)	PIP5K1C (T41A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2493634	NM_012398.3(PIP5K1C):c.640C>T (p.Arg214Trp)	PIP5K1C (R214W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478839	NM_012398.3(PIP5K1C):c.1642C>T (p.Arg548Trp)	PIP5K1C (R548W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461508	NM_012398.3(PIP5K1C):c.113C>T (p.Ala38Val)	PIP5K1C (A38V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2434867	NM_012398.3(PIP5K1C):c.991C>T (p.Arg331Cys)	PIP5K1C (R331C)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 3	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2411479	NM_012398.3(PIP5K1C):c.136A>G (p.Met46Val)	PIP5K1C (M46V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408856	NM_012398.3(PIP5K1C):c.1603A>G (p.Ile535Val)	PIP5K1C (I535V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2399993	NM_012398.3(PIP5K1C):c.1097C>T (p.Ala366Val)	PIP5K1C (A366V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389435	NM_012398.3(PIP5K1C):c.1993G>A (p.Glu665Lys)	PIP5K1C (E665K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379794	NM_012398.3(PIP5K1C):c.1909G>A (p.Asp637Asn)	PIP5K1C (D637N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366270	NM_012398.3(PIP5K1C):c.1004C>T (p.Ala335Val)	PIP5K1C (A335V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351974	NM_012398.3(PIP5K1C):c.1702G>A (p.Ala568Thr)	PIP5K1C (A568T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318182	NM_012398.3(PIP5K1C):c.1361C>T (p.Pro454Leu)	PIP5K1C (P454L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313813	NM_012398.3(PIP5K1C):c.1358C>T (p.Ser453Leu)	PIP5K1C (S453L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254450	NM_012398.3(PIP5K1C):c.1637A>G (p.Gln546Arg)	PIP5K1C (Q546R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253726	NM_012398.3(PIP5K1C):c.1022C>T (p.Thr341Ile)	PIP5K1C (T341I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217616	NM_012398.3(PIP5K1C):c.325G>A (p.Val109Met)	PIP5K1C (V109M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209931	NM_012398.3(PIP5K1C):c.730C>T (p.Arg244Cys)	PIP5K1C (R244C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809611	NM_012398.3(PIP5K1C):c.614A>G (p.Tyr205Cys)	PIP5K1C (Y205C)	Single nucleotide variant (missense variant)	Novel PIP5K1C-related neurodevelopmental disorder	GUncertain significance
Select item 1723039	NM_012398.3(PIP5K1C):c.1979del (p.Pro660fs)	PIP5K1C (P660fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1706889	NM_012398.3(PIP5K1C):c.95-161G>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1704688	NM_012398.3(PIP5K1C):c.1265C>G (p.Thr422Arg)	PIP5K1C (T422R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699543	NM_012398.3(PIP5K1C):c.1375C>T (p.Arg459Cys)	PIP5K1C (R459C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 more	Copy number loss	not provided	GPathogenic
Select item 1334373	NM_012398.3(PIP5K1C):c.1920+45TC[3]	PIP5K1C	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1326829	NM_012398.3(PIP5K1C):c.351-226G>A	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1312290	NM_012398.3(PIP5K1C):c.554T>G (p.Phe185Cys)	PIP5K1C (F185C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309879	NM_012398.3(PIP5K1C):c.1061A>G (p.Tyr354Cys)	PIP5K1C (Y354C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309199	NM_012398.3(PIP5K1C):c.1745C>T (p.Ala582Val)	PIP5K1C (A582V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309198	NM_012398.3(PIP5K1C):c.1396G>T (p.Val466Leu)	PIP5K1C (V466L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300360	NM_012398.3(PIP5K1C):c.468+27C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293132	NM_012398.3(PIP5K1C):c.1920+25C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293127	NM_012398.3(PIP5K1C):c.1510+111C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293126	NM_012398.3(PIP5K1C):c.351-237del	PIP5K1C	Deletion (intron variant)	not provided	GBenign
Select item 1293122	NM_012398.3(PIP5K1C):c.1345+122C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293116	NM_012398.3(PIP5K1C):c.468+20C>T	PIP5K1C	Single nucleotide variant (intron variant)	Lethal congenital contracture syndrome 3 +1 more	GBenign
Select item 1291853	NM_012398.3(PIP5K1C):c.1127+273A>C	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287793	NM_012398.3(PIP5K1C):c.1211+280T>C	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280788	NM_012398.3(PIP5K1C):c.622-132C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275616	NM_012398.3(PIP5K1C):c.1683-166C>G	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273717	NM_012398.3(PIP5K1C):c.1920+187G>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271396	NM_012398.3(PIP5K1C):c.1920+127_1920+130del	PIP5K1C	Microsatellite (intron variant)	not provided	GBenign
Select item 1271263	NM_012398.3(PIP5K1C):c.1788-136C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270511	NM_012398.3(PIP5K1C):c.1920+26G>A	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267367	NM_012398.3(PIP5K1C):c.1212-56T>C	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265785	NM_012398.3(PIP5K1C):c.95-110=	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign

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