ClinVar for Gene (Select 6342) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 3036323	NM_002979.5(SCP2):c.67A>C (p.Lys23Gln)	SCP2 (K23Q)	Single nucleotide variant (missense variant +1 more)	SCP2-related condition	GUncertain significance
Select item 3011416	NM_002979.5(SCP2):c.396+18A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009895	NM_002979.5(SCP2):c.1235+7G>A	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002180	NM_002979.5(SCP2):c.199+10A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995303	NM_002979.5(SCP2):c.321G>A (p.Leu107=)	SCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2992039	NM_002979.5(SCP2):c.397-5C>T	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983025	NM_002979.5(SCP2):c.674+15T>C	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981901	NM_002979.5(SCP2):c.1236-20A>T	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974663	NM_002979.5(SCP2):c.238T>C (p.Leu80=)	SCP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2973460	NM_002979.5(SCP2):c.825+18T>A	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972302	NM_002979.5(SCP2):c.549A>G (p.Lys183=)	SCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971562	NM_002979.5(SCP2):c.128-15C>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967018	NM_002979.5(SCP2):c.332-7C>T	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965291	NM_002979.5(SCP2):c.199+14TG[3]	SCP2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2896073	NM_002979.5(SCP2):c.885A>C (p.Thr295=)	SCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871017	NM_002979.5(SCP2):c.332-12T>C	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870848	NM_002979.5(SCP2):c.825+1G>A	SCP2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2869530	NM_002979.5(SCP2):c.768A>G (p.Ala256=)	SCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864821	NM_002979.5(SCP2):c.960A>G (p.Gly320=)	SCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853364	NM_002979.5(SCP2):c.587+17C>T	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853344	NM_002979.5(SCP2):c.1606del (p.Gln536fs)	SCP2 (Q455fs +5 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2844070	NM_002979.5(SCP2):c.438C>T (p.Leu146=)	SCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838386	NM_002979.5(SCP2):c.1287T>C (p.Asp429=)	SCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836448	NM_002979.5(SCP2):c.974-1G>C	SCP2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2835445	NM_002979.5(SCP2):c.417C>T (p.Pro139=)	SCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822706	NM_002979.5(SCP2):c.1069C>T (p.Leu357=)	SCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819441	NM_002979.5(SCP2):c.69+12A>T	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810337	NM_002979.5(SCP2):c.1254A>G (p.Gln418=)	SCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794395	NM_002979.5(SCP2):c.1296G>A (p.Lys432=)	SCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792888	NM_002979.5(SCP2):c.331+19G>C	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787881	NM_002979.5(SCP2):c.628A>G (p.Met210Val)	SCP2 (M129V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783891	NM_002979.5(SCP2):c.1235+14A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783349	NM_002979.5(SCP2):c.1236-1G>T	SCP2	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 2782835	NM_002979.5(SCP2):c.825+17A>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780590	NM_002979.5(SCP2):c.199+17G>A	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779555	NM_002979.5(SCP2):c.1549-9T>C	SCP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2768943	NM_002979.5(SCP2):c.879C>A (p.Gly293=)	SCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766203	NM_002979.5(SCP2):c.1339-20del	SCP2	Deletion (intron variant)	not provided	GLikely benign
Select item 2761903	NM_002979.5(SCP2):c.837T>C (p.Asp279=)	SCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2761715	NM_002979.5(SCP2):c.151C>T (p.Gln51Ter)	SCP2 (Q51*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2756299	NM_002979.5(SCP2):c.706T>C (p.Leu236=)	SCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2753686	NM_002979.5(SCP2):c.1235+12T>C	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732874	NM_002979.5(SCP2):c.524-16T>A	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703525	NM_002979.5(SCP2):c.1434G>A (p.Val478=)	SCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2696338	NM_002979.5(SCP2):c.535G>T (p.Glu179Ter)	SCP2 (E179* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2685805	GRCh37/hg19 1p32.3(chr1:53225500-53499298)x3	SCP2, ZYG11A +2 more	Copy number gain	not provided	GUncertain significance
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2627001	NM_002979.5(SCP2):c.973+816C>T	SCP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2602482	NM_002979.5(SCP2):c.22C>G (p.Pro8Ala)	SCP2 (P8A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467107	NM_002979.5(SCP2):c.1181T>C (p.Ile394Thr)	SCP2 (I394T +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2427817	NM_002979.5(SCP2):c.826-7G>C	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2424593	NC_000001.10:g.(?_53413661)_(53516376_?)dup	SCP2	Duplication	not provided	GUncertain significance
Select item 2424592	NC_000001.10:g.(?_53393069)_(53420496_?)dup	SCP2	Duplication	not provided	GUncertain significance
Select item 2424591	NC_000001.10:g.(?_53407448)_(53446235_?)del	SCP2	Deletion	not provided	GPathogenic
Select item 2424590	NC_000001.10:g.(?_53407448)_(53407545_?)del	SCP2	Deletion	not provided	GPathogenic
Select item 2417300	NM_002979.5(SCP2):c.933C>T (p.Asn311=)	SCP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2373596	NM_002979.5(SCP2):c.399T>G (p.Phe133Leu)	SCP2 (F133L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262578	NM_002979.5(SCP2):c.725T>C (p.Val242Ala)	SCP2 (V218A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2181913	NM_002979.5(SCP2):c.921C>T (p.Cys307=)	SCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179576	NM_002979.5(SCP2):c.454G>A (p.Gly152Arg)	SCP2 (G128R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178181	NM_002979.5(SCP2):c.866A>G (p.Tyr289Cys)	SCP2 (Y208C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175312	NM_002979.5(SCP2):c.410C>T (p.Thr137Ile)	SCP2 (T113I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155314	NM_002979.5(SCP2):c.127+2T>C	SCP2	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 2139022	NM_002979.5(SCP2):c.1375T>A (p.Phe459Ile)	SCP2 (F435I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2131467	NM_002979.5(SCP2):c.334G>A (p.Val112Met)	SCP2 (V112M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129414	NM_002979.5(SCP2):c.587+10T>C	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2127945	NM_002979.5(SCP2):c.1468+20C>T	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2125927	NM_002979.5(SCP2):c.1611T>C (p.Asn537=)	SCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2125915	NM_002979.5(SCP2):c.948T>C (p.Tyr316=)	SCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2119362	NM_002979.5(SCP2):c.1215G>A (p.Met405Ile)	SCP2 (M1I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2114382	NM_002979.5(SCP2):c.1499C>T (p.Ala500Val)	SCP2 (A419V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2114126	NM_002979.5(SCP2):c.1548+6T>C	SCP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2113527	NM_002979.5(SCP2):c.1404G>T (p.Gly468=)	SCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2111270	NM_002979.5(SCP2):c.1001G>C (p.Gly334Ala)	SCP2 (G253A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110537	NM_002979.5(SCP2):c.200-15T>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2107124	NM_002979.5(SCP2):c.1171A>T (p.Asn391Tyr)	SCP2 (N391Y +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2106746	NM_002979.5(SCP2):c.1469-17C>G	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2106111	NM_002979.5(SCP2):c.328G>T (p.Gly110Cys)	SCP2 (G29C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2097480	NM_002979.5(SCP2):c.13C>A (p.Pro5Thr)	SCP2 (P5T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2095301	NM_002979.5(SCP2):c.1278T>C (p.Ser426=)	SCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2093997	NM_002979.5(SCP2):c.987G>A (p.Thr329=)	SCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2090240	NM_002979.5(SCP2):c.1550C>A (p.Ala517Asp)	SCP2 (A436D +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2087399	NM_002979.5(SCP2):c.590A>G (p.Tyr197Cys)	SCP2 (Y153C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087322	NM_002979.5(SCP2):c.382A>G (p.Ser128Gly)	SCP2 (S128G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068545	NM_002979.5(SCP2):c.673T>A (p.Cys225Ser)	SCP2 (C144S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068347	NM_002979.5(SCP2):c.2T>C (p.Met1Thr)	SCP2 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2068082	NM_002979.5(SCP2):c.1135A>C (p.Arg379=)	SCP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2064113	NM_002979.5(SCP2):c.678C>T (p.Pro226=)	SCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2060975	NM_002979.5(SCP2):c.40G>C (p.Val14Leu)	SCP2 (V14L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2059273	NM_002979.5(SCP2):c.229_232del (p.Tyr77fs)	SCP2 (Y53fs +1 more)	Microsatellite (frameshift variant +2 more)	not provided	GPathogenic
Select item 2052889	NM_002979.5(SCP2):c.69+13G>A	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2049058	NM_002979.5(SCP2):c.1619T>G (p.Leu540Arg)	SCP2 (L136R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2047504	NM_002979.5(SCP2):c.588-9del	SCP2	Deletion (intron variant)	not provided	GBenign
Select item 2046709	NM_002979.5(SCP2):c.1469-12dup	SCP2	Duplication (intron variant)	not provided	GLikely benign
Select item 2045377	NM_002979.5(SCP2):c.1170dup (p.Asn391Ter)	SCP2 (N367* +3 more)	Duplication (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2043513	NM_002979.5(SCP2):c.374G>A (p.Ser125Asn)	SCP2 (S125N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2035627	NM_002979.5(SCP2):c.417del (p.Thr140fs)	SCP2 (T59fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2034768	NM_002979.5(SCP2):c.69+16G>A	SCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2034398	NM_002979.5(SCP2):c.1171A>G (p.Asn391Asp)	SCP2 (N391D +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance

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