"GeneDx"[submitter] AND "PIP5K1C"[gene] - ClinVar

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Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	See cases	GPathogenic
Select item 60233	GRCh38/hg38 19p13.3(chr19:3080621-3730716)x3	CACTIN, CACTIN-AS1 +79 more	Copy number gain	See cases	GUncertain significance
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 1250109	NM_012398.3(PIP5K1C):c.*194G>C	PIP5K1C	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1262386	NM_012398.3(PIP5K1C):c.*50G>T	PIP5K1C	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1243421	NM_012398.3(PIP5K1C):c.2005-25T>C	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245619	NM_012398.3(PIP5K1C):c.2005-106C>G	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2579600	NM_012398.3(PIP5K1C):c.1979dup (p.Ala661fs)	PIP5K1C (A661fs)	Duplication (frameshift variant +1 more)	not provided	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 708469	NM_012398.3(PIP5K1C):c.1975C>T (p.Pro659Ser)	PIP5K1C (P659S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 716239	NM_012398.3(PIP5K1C):c.1966G>A (p.Ala656Thr)	PIP5K1C (A656T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1246764	NM_012398.3(PIP5K1C):c.1921-105C>T	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 1334373	NM_012398.3(PIP5K1C):c.1920+45TC[3]	PIP5K1C	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1270511	NM_012398.3(PIP5K1C):c.1920+26G>A	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293132	NM_012398.3(PIP5K1C):c.1920+25C>T	PIP5K1C	Single nucleotide variant (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 1258350	NM_012398.3(PIP5K1C):c.1787+31G>A	PIP5K1C	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 778806	NM_012398.3(PIP5K1C):c.1746G>A (p.Ala582=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 769944	NM_012398.3(PIP5K1C):c.1698A>G (p.Pro566=)	PIP5K1C	Single nucleotide variant (synonymous 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 1246501	NM_012398.3(PIP5K1C):c.1683-250A>G	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193181	NM_012398.3(PIP5K1C):c.1683-333G>A	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193932	NM_012398.3(PIP5K1C):c.1682+239dup	PIP5K1C	Duplication (intron variant)	not provided	GLikely benign
Select item 3375726	NM_012398.3(PIP5K1C):c.1654C>G (p.Arg552Gly)	PIP5K1C (R552G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1181422	NM_012398.3(PIP5K1C):c.1650-31T>C	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260833	NM_012398.3(PIP5K1C):c.1649+148C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186904	NM_012398.3(PIP5K1C):c.1649+117G>A	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188191	NM_012398.3(PIP5K1C):c.1511-14T>C	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240847	NM_012398.3(PIP5K1C):c.1511-299G>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254888	NM_012398.3(PIP5K1C):c.1511-306G>A	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293127	NM_012398.3(PIP5K1C):c.1510+111C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239063	NM_012398.3(PIP5K1C):c.1510+71T>C	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263633	NM_012398.3(PIP5K1C):c.1510+23C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
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 777365	NM_012398.3(PIP5K1C):c.1378G>A (p.Gly460Ser)	PIP5K1C (G460S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 1265782	NM_012398.3(PIP5K1C):c.1346-88C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241890	NM_012398.3(PIP5K1C):c.1346-260A>G	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222095	NM_012398.3(PIP5K1C):c.1346-292A>G	PIP5K1C	Single nucleotide variant (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 1201497	NM_012398.3(PIP5K1C):c.1345+54G>A	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221119	NM_012398.3(PIP5K1C):c.1345+25C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 719783	NM_012398.3(PIP5K1C):c.1345+9C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign/Likely 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 1200006	NM_012398.3(PIP5K1C):c.1261-15C>A	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196041	NM_012398.3(PIP5K1C):c.1261-81_1261-78del	PIP5K1C	Deletion (intron variant)	not provided	GLikely benign
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 3372762	NM_012398.3(PIP5K1C):c.1212-3C>G	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1267367	NM_012398.3(PIP5K1C):c.1212-56T>C	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180336	NM_012398.3(PIP5K1C):c.1212-237A>G	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 1247568	NM_012398.3(PIP5K1C):c.1211+24T>C	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3372142	NM_012398.3(PIP5K1C):c.1190_1191delinsCT (p.Ile397Thr)	PIP5K1C (I397T)	Indel (missense variant)	not provided	GUncertain significance
Select item 1211530	NM_012398.3(PIP5K1C):c.1127+293G>A	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291853	NM_012398.3(PIP5K1C):c.1127+273A>C	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
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 781377	NM_012398.3(PIP5K1C):c.922-6C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1248598	NM_012398.3(PIP5K1C):c.921+185T>C	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3372483	NM_012398.3(PIP5K1C):c.900G>C (p.Lys300Asn)	PIP5K1C (K300N)	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 1253793	NM_012398.3(PIP5K1C):c.684G>A (p.Ser228=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1172538	NM_012398.3(PIP5K1C):c.662A>G (p.Tyr221Cys)	PIP5K1C (Y221C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3340944	NM_012398.3(PIP5K1C):c.625C>T (p.Leu209Phe)	PIP5K1C (L209F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1280788	NM_012398.3(PIP5K1C):c.622-132C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225590	NM_012398.3(PIP5K1C):c.621+188C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
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 3373163	NM_012398.3(PIP5K1C):c.481A>G (p.Asn161Asp)	PIP5K1C (N161D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264602	NM_012398.3(PIP5K1C):c.469-97C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199915	NM_012398.3(PIP5K1C):c.469-306C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193716	NM_012398.3(PIP5K1C):c.468+277C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197068	NM_012398.3(PIP5K1C):c.468+157G>A	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300360	NM_012398.3(PIP5K1C):c.468+27C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1204250	NM_012398.3(PIP5K1C):c.351-15G>A	PIP5K1C	Single nucleotide variant (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 1293126	NM_012398.3(PIP5K1C):c.351-237del	PIP5K1C	Deletion (intron variant)	not provided	GBenign
Select item 1252240	NM_012398.3(PIP5K1C):c.350+150C>G	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217499	NM_012398.3(PIP5K1C):c.220-58G>C	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1246616	NM_012398.3(PIP5K1C):c.127-273C>A	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202516	NM_012398.3(PIP5K1C):c.126+110C>G	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246602	NM_012398.3(PIP5K1C):c.126+26C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219397	NM_012398.3(PIP5K1C):c.95-63T>C	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213394	NM_012398.3(PIP5K1C):c.95-99C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215818	NM_012398.3(PIP5K1C):c.95-109G>A	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265785	NM_012398.3(PIP5K1C):c.95-110=	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706889	NM_012398.3(PIP5K1C):c.95-161G>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257502	NM_012398.3(PIP5K1C):c.95-182C>G	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3365834	NM_012398.3(PIP5K1C):c.29_43del (p.Glu10_Ala14del)	PIP5K1C	Deletion	not provided	GUncertain significance
Select item 769946	NM_012398.3(PIP5K1C):c.15A>G (p.Val5=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1178587	NC_000019.10:g.3700539A>G	PIP5K1C	Single nucleotide variant	not provided	GBenign

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Items: 96