25686[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 154142	GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1	C1orf50, CCDC30 +142 more	Copy number loss	See cases	GPathogenic
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 2183501	NM_024664.4(PPCS):c.1A>C (p.Met1Leu)	CCDC30, PPCS (M1L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1462177	NM_024664.4(PPCS):c.1A>G (p.Met1Val)	CCDC30, PPCS (M1V)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1488001	NM_024664.4(PPCS):c.3G>A (p.Met1Ile)	CCDC30, PPCS (M1I)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1948556	NM_024664.4(PPCS):c.4G>T (p.Ala2Ser)	CCDC30, PPCS (A2S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1419572	NM_024664.4(PPCS):c.11T>C (p.Met4Thr)	CCDC30, PPCS (M4T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1367398	NM_024664.4(PPCS):c.14A>G (p.Asp5Gly)	CCDC30, PPCS (D5G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1496171	NM_024664.4(PPCS):c.16C>T (p.Pro6Ser)	CCDC30, PPCS (P6S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1488838	NM_024664.4(PPCS):c.17C>T (p.Pro6Leu)	CCDC30, PPCS (P6L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2117857	NM_024664.4(PPCS):c.19G>A (p.Val7Ile)	PPCS, CCDC30 (V7I)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2095754	NM_024664.4(PPCS):c.22G>T (p.Ala8Ser)	CCDC30, PPCS (A8S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2049730	NM_024664.4(PPCS):c.23C>T (p.Ala8Val)	CCDC30, PPCS (A8V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2167651	NM_024664.4(PPCS):c.24C>T (p.Ala8=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1372123	NM_024664.4(PPCS):c.24C>G (p.Ala8=)	PPCS, CCDC30	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1616268	NM_024664.4(PPCS):c.27G>A (p.Glu9=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3011680	NM_024664.4(PPCS):c.30C>T (p.Phe10=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1429312	NM_024664.4(PPCS):c.34del (p.Gln12fs)	CCDC30, PPCS (Q12fs)	Deletion (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1595531	NM_024664.4(PPCS):c.33C>T (p.Pro11=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2615576	NM_024664.4(PPCS):c.34C>G (p.Gln12Glu)	CCDC30, PPCS (Q12E)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1386704	NM_024664.4(PPCS):c.35A>G (p.Gln12Arg)	CCDC30, PPCS (Q12R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1537987	NM_024664.4(PPCS):c.36G>A (p.Gln12=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1899788	NM_024664.4(PPCS):c.37C>A (p.Pro13Thr)	CCDC30, PPCS (P13T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2262517	NM_024664.4(PPCS):c.41C>T (p.Pro14Leu)	CCDC30, PPCS (P14L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3014830	NM_024664.4(PPCS):c.45T>A (p.Gly15=)	PPCS, CCDC30	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2089293	NM_024664.4(PPCS):c.52C>T (p.Arg18Cys)	CCDC30, LOC129930343 +1 more (R18C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2022106	NM_024664.4(PPCS):c.57G>T (p.Trp19Cys)	PPCS, CCDC30 +1 more (W19C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1377509	NM_024664.4(PPCS):c.64G>A (p.Val22Ile)	CCDC30, LOC129930343 +1 more (V22I)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1465586	NM_024664.4(PPCS):c.65T>C (p.Val22Ala)	CCDC30, LOC129930343 +1 more (V22A)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1970743	NM_024664.4(PPCS):c.66T>C (p.Val22=)	PPCS, LOC129930343 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1988211	NM_024664.4(PPCS):c.72T>C (p.Ala24=)	CCDC30, LOC129930343 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2780798	NM_024664.4(PPCS):c.81G>C (p.Ala27=)	CCDC30, LOC129930343 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1536013	NM_024664.4(PPCS):c.84C>G (p.Ala28=)	CCDC30, LOC129930343 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2845538	NM_024664.4(PPCS):c.85A>C (p.Arg29=)	CCDC30, LOC129930343 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2121056	NM_024664.4(PPCS):c.88C>A (p.Leu30Met)	CCDC30, LOC129930343 +1 more (L30M)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2055041	NM_024664.4(PPCS):c.88C>T (p.Leu30=)	CCDC30, LOC129930343 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1977923	NM_024664.4(PPCS):c.89T>A (p.Leu30Gln)	CCDC30, LOC129930343 +1 more (L30Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1352139	NM_024664.4(PPCS):c.95C>T (p.Ala32Val)	CCDC30, LOC129930343 +1 more (A32V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2999833	NM_024664.4(PPCS):c.102C>T (p.Gly34=)	CCDC30, LOC129930343 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3217054	NM_024664.4(PPCS):c.104G>A (p.Arg35Gln)	CCDC30, LOC129930343 +1 more (R35Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2811058	NM_024664.4(PPCS):c.105G>A (p.Arg35=)	CCDC30, LOC129930343 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2117759	NM_024664.4(PPCS):c.109G>C (p.Val37Leu)	CCDC30, LOC129930343 +1 more (V37L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1585682	NM_024664.4(PPCS):c.111G>C (p.Val37=)	CCDC30, LOC129930343 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1550943	NM_024664.4(PPCS):c.120T>A (p.Val40=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1930133	NM_024664.4(PPCS):c.127G>A (p.Gly43Ser)	CCDC30, PPCS (G43S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3217055	NM_024664.4(PPCS):c.137A>C (p.Lys46Thr)	CCDC30, PPCS (K46T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2203330	NM_024664.4(PPCS):c.141C>T (p.Val47=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1628973	NM_024664.4(PPCS):c.147G>T (p.Leu49=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1629414	NM_024664.4(PPCS):c.159G>A (p.Pro53=)	PPCS, CCDC30	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1543361	NM_024664.4(PPCS):c.165C>G (p.Arg55=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2102205	NM_024664.4(PPCS):c.168C>T (p.Phe56=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1981832	NM_024664.4(PPCS):c.180del (p.Phe60fs)	CCDC30, PPCS (F60fs)	Deletion (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1393856	NM_024664.4(PPCS):c.193C>G (p.Arg65Gly)	CCDC30, PPCS (R65G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1919972	NM_024664.4(PPCS):c.198T>C (p.Gly66=)	PPCS, CCDC30	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2615388	NM_024664.4(PPCS):c.202A>C (p.Thr68Pro)	CCDC30, PPCS (T68P)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2054986	NM_024664.4(PPCS):c.205T>C (p.Ser69Pro)	CCDC30, PPCS (S69P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1474692	NM_024664.4(PPCS):c.206C>A (p.Ser69Ter)	CCDC30, PPCS (S69*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1899671	NM_024664.4(PPCS):c.208G>A (p.Ala70Thr)	CCDC30, PPCS (A70T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2038905	NM_024664.4(PPCS):c.210C>T (p.Ala70=)	PPCS, CCDC30 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1956062	NM_024664.4(PPCS):c.210C>G (p.Ala70=)	CCDC30, LOC129930344 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3012679	NM_024664.4(PPCS):c.216C>G (p.Ala72=)	CCDC30, LOC129930344 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1960566	NM_024664.4(PPCS):c.219C>G (p.Phe73Leu)	CCDC30, LOC129930344 +1 more (F73L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1594109	NM_024664.4(PPCS):c.219C>T (p.Phe73=)	CCDC30, LOC129930344 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1513347	NM_024664.4(PPCS):c.221T>C (p.Leu74Pro)	PPCS, CCDC30 +1 more (L74P)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2847594	NM_024664.4(PPCS):c.234C>T (p.Tyr78=)	CCDC30, LOC129930344 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1957344	NM_024664.4(PPCS):c.235G>A (p.Gly79Arg)	CCDC30, LOC129930344 +1 more (G79R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1917070	NM_024664.4(PPCS):c.240C>G (p.Val80=)	CCDC30, LOC129930344 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1907497	NM_024664.4(PPCS):c.246C>T (p.Phe82=)	CCDC30, LOC129930344 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1613587	NM_024664.4(PPCS):c.247T>C (p.Leu83=)	CCDC30, LOC129930344 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1903880	NM_024664.4(PPCS):c.248T>A (p.Leu83Ter)	CCDC30, LOC129930344 +1 more (L83*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2268546	NM_024664.4(PPCS):c.253C>G (p.Arg85Gly)	CCDC30, LOC129930344 +1 more (R85G)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1476885	NM_024664.4(PPCS):c.257C>G (p.Ala86Gly)	CCDC30, LOC129930344 +1 more (A86G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1372571	NM_024664.4(PPCS):c.260G>A (p.Arg87His)	CCDC30, LOC129930344 +1 more (R87H)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1562554	NM_024664.4(PPCS):c.261C>T (p.Arg87=)	CCDC30, LOC129930344 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1510024	NM_024664.4(PPCS):c.271C>G (p.Pro91Ala)	CCDC30, LOC129930344 +1 more (P91A)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1962259	NM_024664.4(PPCS):c.272C>T (p.Pro91Leu)	LOC129930344, PPCS +1 more (P91L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1620875	NM_024664.4(PPCS):c.288C>T (p.Phe96=)	CCDC30, LOC129930344 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2188147	NM_024664.4(PPCS):c.293C>T (p.Pro98Leu)	CCDC30, LOC129930344 +1 more (P98L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1896228	NM_024664.4(PPCS):c.297G>T (p.Gln99His)	LOC129930344, CCDC30 +1 more (Q99H)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2048812	NM_024664.4(PPCS):c.306G>T (p.Leu102=)	CCDC30, LOC129930344 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1447868	NM_024664.4(PPCS):c.308C>G (p.Ser103Cys)	CCDC30, LOC129930344 +1 more (S103C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1626727	NM_024664.4(PPCS):c.309C>T (p.Ser103=)	CCDC30, LOC129930344 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1566758	NM_024664.4(PPCS):c.309C>A (p.Ser103=)	CCDC30, LOC129930344 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1489373	NM_024664.4(PPCS):c.311C>T (p.Ala104Val)	CCDC30, LOC129930344 +1 more (A104V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1963488	NM_024664.4(PPCS):c.312T>C (p.Ala104=)	CCDC30, LOC129930344 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1361004	NM_024664.4(PPCS):c.319C>T (p.Pro107Ser)	PPCS, CCDC30 +1 more (P107S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 590784	NM_024664.4(PPCS):c.320_334del (p.Pro107_Ala111del)	CCDC30, LOC129930344 +1 more	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1941548	NM_024664.4(PPCS):c.321T>C (p.Pro107=)	CCDC30, LOC129930344 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1636619	NM_024664.4(PPCS):c.324G>C (p.Ser108=)	CCDC30, LOC129930344 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1361600	NM_024664.4(PPCS):c.328C>T (p.Pro110Ser)	CCDC30, LOC129930344 +1 more (P110S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1480790	NM_024664.4(PPCS):c.329C>T (p.Pro110Leu)	CCDC30, PPCS (P110L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1518021	NM_024664.4(PPCS):c.331G>A (p.Ala111Thr)	CCDC30, PPCS (A111T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1517081	NM_024664.4(PPCS):c.352C>A (p.Leu118Met)	CCDC30, PPCS (L118M)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1634914	NM_024664.4(PPCS):c.360C>G (p.Ala120=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1516671	NM_024664.4(PPCS):c.361G>T (p.Glu121Ter)	CCDC30, PPCS (E121*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1674299	NM_024664.4(PPCS):c.366G>A (p.Glu122=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3025902	NM_024664.4(PPCS):c.368A>G (p.Asn123Ser)	CCDC30, PPCS (N123S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance

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