ClinVar for Gene (Select 79717) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247992	NC_000001.10:g.(?_42922237)_(43916151_?)del	C1orf210, C1orf50 +20 more	Deletion	not provided	GPathogenic
Select item 3247800	NC_000001.10:g.(?_42922237)_(43424429_?)dup	C1orf50, CCDC30 +9 more	Duplication	GLUT1 deficiency syndrome 1, autosomal recessive	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 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 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
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
Select item 3014830	NM_024664.4(PPCS):c.45T>A (p.Gly15=)	CCDC30, PPCS	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=)	PPCS, CCDC30 +1 more	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 3011013	NM_024664.4(PPCS):c.508+19C>T	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 2993445	NM_024664.4(PPCS):c.546A>G (p.Ser182=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2988120	NM_024664.4(PPCS):c.642T>G (p.Leu214=)	CCDC30, PPCS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971249	NM_024664.4(PPCS):c.612+17T>C	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2916195	NM_024664.4(PPCS):c.504G>T (p.Pro168=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2873448	NM_024664.4(PPCS):c.411G>A (p.Glu137=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2872105	NM_024664.4(PPCS):c.502C>A (p.Pro168Thr)	CCDC30, PPCS (P168T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	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 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 2837293	NM_024664.4(PPCS):c.509-16G>A	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 2806546	NM_024664.4(PPCS):c.607C>T (p.Leu203=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2789355	NM_024664.4(PPCS):c.509-20C>T	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2780798	NM_024664.4(PPCS):c.81G>C (p.Ala27=)	CCDC30, LOC129930343 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2695892	NM_024664.4(PPCS):c.612G>A (p.Gln204=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
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 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 2426857	NC_000001.10:g.(?_42922237)_(42925597_?)dup	PPCS	Duplication	not provided	GUncertain significance
Select item 2413643	NM_024664.4(PPCS):c.432C>T (p.Phe144=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2298853	NM_024664.4(PPCS):c.725G>A (p.Arg242Gln)	CCDC30, PPCS (R69Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2264235	NM_024664.4(PPCS):c.448A>T (p.Thr150Ser)	CCDC30, PPCS (T150S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	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 2203330	NM_024664.4(PPCS):c.141C>T (p.Val47=)	PPCS, CCDC30	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)	PPCS, CCDC30 +1 more (P98L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2187338	NM_024664.4(PPCS):c.708C>T (p.Pro236=)	CCDC30, PPCS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2185844	NM_024664.4(PPCS):c.613-4A>G	CCDC30, PPCS	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2173777	NM_024664.4(PPCS):c.459G>A (p.Ala153=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2171877	NM_024664.4(PPCS):c.510C>T (p.Gly170=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 2160094	NM_024664.4(PPCS):c.752A>C (p.Gln251Pro)	CCDC30, PPCS (Q251P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2128332	NM_024664.4(PPCS):c.911_912del (p.Thr304fs)	CCDC30, PPCS (T304fs +2 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
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 2117857	NM_024664.4(PPCS):c.19G>A (p.Val7Ile)	CCDC30, PPCS (V7I)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
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 2111185	NM_024664.4(PPCS):c.821C>G (p.Ser274Trp)	CCDC30, PPCS (S101W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2108271	NM_024664.4(PPCS):c.748T>G (p.Tyr250Asp)	CCDC30, PPCS (Y44D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2105215	NM_024664.4(PPCS):c.854T>G (p.Ile285Arg)	CCDC30, PPCS (I112R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 2080692	NM_024664.4(PPCS):c.598G>C (p.Gly200Arg)	CCDC30, PPCS (G27R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2078426	NM_024664.4(PPCS):c.554_555del (p.Tyr185fs)	CCDC30, PPCS (Y12fs +1 more)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2075214	NM_024664.4(PPCS):c.607C>G (p.Leu203Val)	CCDC30, PPCS (L203V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2064970	NM_024664.4(PPCS):c.615A>T (p.Ile205=)	CCDC30, PPCS	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2057063	NM_024664.4(PPCS):c.508+14G>C	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2055041	NM_024664.4(PPCS):c.88C>T (p.Leu30=)	PPCS, CCDC30 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	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 2049893	NM_024664.4(PPCS):c.387T>G (p.Ala129=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
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 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 2038905	NM_024664.4(PPCS):c.210C>T (p.Ala70=)	CCDC30, LOC129930344 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2022106	NM_024664.4(PPCS):c.57G>T (p.Trp19Cys)	CCDC30, LOC129930343 +1 more (W19C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2013919	NM_024664.4(PPCS):c.401G>A (p.Ser134Asn)	CCDC30, PPCS (S134N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2001912	NM_024664.4(PPCS):c.465T>C (p.Tyr155=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1996141	NM_024664.4(PPCS):c.750T>C (p.Tyr250=)	CCDC30, PPCS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1994273	NM_024664.4(PPCS):c.769G>T (p.Ala257Ser)	CCDC30, PPCS (A257S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1988211	NM_024664.4(PPCS):c.72T>C (p.Ala24=)	PPCS, CCDC30 +1 more	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 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 1976273	NM_024664.4(PPCS):c.508+13G>C	PPCS, CCDC30	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1974946	NM_024664.4(PPCS):c.842C>A (p.Ser281Ter)	CCDC30, PPCS (S108* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1973515	NM_024664.4(PPCS):c.930A>G (p.Arg310=)	CCDC30, PPCS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1973251	NM_024664.4(PPCS):c.730C>T (p.Arg244Trp)	PPCS, CCDC30 (R244W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1970743	NM_024664.4(PPCS):c.66T>C (p.Val22=)	CCDC30, LOC129930343 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1969121	NM_024664.4(PPCS):c.747T>C (p.Ile249=)	CCDC30, PPCS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1962259	NM_024664.4(PPCS):c.272C>T (p.Pro91Leu)	CCDC30, LOC129930344 +1 more (P91L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
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 1957344	NM_024664.4(PPCS):c.235G>A (p.Gly79Arg)	LOC129930344, PPCS +1 more (G79R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
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 1952978	NM_024664.4(PPCS):c.396G>C (p.Leu132=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
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 1945742	NM_024664.4(PPCS):c.612+9C>T	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1945560	NM_024664.4(PPCS):c.612+7G>C	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1942324	NM_024664.4(PPCS):c.904C>T (p.Arg302Ter)	CCDC30, PPCS (R302* +2 more)	Single nucleotide variant (nonsense +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 1931050	NM_024664.4(PPCS):c.613-16T>G	CCDC30, PPCS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930908	NM_024664.4(PPCS):c.849A>G (p.Glu283=)	CCDC30, PPCS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1930907	NM_024664.4(PPCS):c.790C>G (p.Gln264Glu)	CCDC30, PPCS (Q58E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1930680	NM_024664.4(PPCS):c.852A>C (p.Glu284Asp)	CCDC30, PPCS (E284D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1927491	NM_024664.4(PPCS):c.821C>T (p.Ser274Leu)	CCDC30, PPCS (S274L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1924921	NM_024664.4(PPCS):c.905G>A (p.Arg302Gln)	CCDC30, PPCS (R129Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1922296	NM_024664.4(PPCS):c.935G>T (p.Ter312Leu)	CCDC30, PPCS	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 1919972	NM_024664.4(PPCS):c.198T>C (p.Gly66=)	CCDC30, PPCS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
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 1909874	NM_024664.4(PPCS):c.449C>T (p.Thr150Ile)	CCDC30, PPCS (T150I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance

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