Related gene-specific medical variations for Gene (Select 132884) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362517	NM_147127.5(EVC2):c.1612C>T (p.His538Tyr)	EVC2 (H458Y +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 3276661	NM_147127.5(EVC2):c.1398G>A (p.Met466Ile)	EVC2, LOC126806961 (M386I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276660	NM_147127.5(EVC2):c.1397T>C (p.Met466Thr)	EVC2, LOC126806961 (M386T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3276659	NM_147127.5(EVC2):c.1432G>A (p.Glu478Lys)	EVC2, LOC126806961 (E478K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246633	NC_000004.11:g.(?_5612949)_(5633604_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 3246632	NC_000004.11:g.(?_5630338)_(5635928_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 3246630	NC_000004.11:g.(?_5564575)_(5570387_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246628	NC_000004.11:g.(?_5620185)_(5699394_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246627	NC_000004.11:g.(?_5577947)_(5586597_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246626	NC_000004.11:g.(?_5617129)_(5627655_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246625	NC_000004.11:g.(?_5620185)_(5642585_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246623	NC_000004.11:g.(?_5682967)_(5683060_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 3246622	NC_000004.11:g.(?_5617129)_(5617291_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 3246621	NC_000004.11:g.(?_5624244)_(5624738_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3246620	NC_000004.11:g.(?_5709993)_(5710240_?)del	EVC2	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3090812	NM_147127.5(EVC2):c.1180G>C (p.Asp394His)	EVC2, LOC126806961 (D394H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2954098	NM_147127.5(EVC2):c.1146-2A>T	EVC2, LOC126806961	Single nucleotide variant (splice acceptor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2953094	NM_147127.5(EVC2):c.1152G>A (p.Glu384=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2952918	NM_147127.5(EVC2):c.1146-11G>A	EVC2, LOC126806961	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2952345	NM_147127.5(EVC2):c.1332del (p.Glu445fs)	EVC2, LOC126806961 (E365fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2951733	NM_147127.5(EVC2):c.1163del (p.Leu388fs)	EVC2, LOC126806961 (L388fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2951197	NM_147127.5(EVC2):c.1371A>G (p.Glu457=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2950600	NM_147127.5(EVC2):c.984A>G (p.Gly328=)	EVC2, LOC126806962	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2948331	NM_147127.5(EVC2):c.1005+1G>A	EVC2, LOC126806962	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2946841	NM_147127.5(EVC2):c.1401A>G (p.Glu467=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2946403	NM_147127.5(EVC2):c.1470+12C>G	EVC2, LOC126806961	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2944734	NM_147127.5(EVC2):c.1218C>A (p.Ile406=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2944679	NM_147127.5(EVC2):c.1359A>G (p.Ala453=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2944257	NM_147127.5(EVC2):c.1315C>T (p.Leu439=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2942771	NM_147127.5(EVC2):c.1470+2T>C	LOC126806961, EVC2	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2941164	NM_147127.5(EVC2):c.1317G>T (p.Leu439=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2940994	NM_147127.5(EVC2):c.1172C>T (p.Ala391Val)	EVC2, LOC126806961 (A311V +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 2938044	NM_147127.5(EVC2):c.1386A>G (p.Thr462=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2937933	NM_147127.5(EVC2):c.1417G>C (p.Glu473Gln)	EVC2, LOC126806961 (E473Q +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 2936597	NM_147127.5(EVC2):c.1266C>T (p.Pro422=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2935781	NM_147127.5(EVC2):c.1005+17G>A	EVC2, LOC126806962	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2935471	NM_147127.5(EVC2):c.1146-5C>T	EVC2, LOC126806961	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2934747	NM_147127.5(EVC2):c.1212G>A (p.Lys404=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2933482	NM_147127.5(EVC2):c.1146-19T>C	EVC2, LOC126806961	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2933443	NM_147127.5(EVC2):c.1005+11C>G	EVC2, LOC126806962	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2932706	NM_147127.5(EVC2):c.1005+15A>C	EVC2, LOC126806962	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2932217	NM_147127.5(EVC2):c.1215T>C (p.Asp405=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2930044	NM_147127.5(EVC2):c.1005+14G>A	EVC2, LOC126806962	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2928861	NM_147127.5(EVC2):c.1146-11G>T	EVC2, LOC126806961	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2928782	NM_147127.5(EVC2):c.1146-12dup	EVC2, LOC126806961	Duplication (intron variant)	Curry-Hall syndrome +1 more	GBenign
Select item 2927957	NM_147127.5(EVC2):c.1209C>T (p.Ser403=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2927698	NM_147127.5(EVC2):c.1332A>G (p.Gln444=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2924411	NM_147127.5(EVC2):c.1395G>A (p.Lys465=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2922791	NM_147127.5(EVC2):c.1206C>T (p.Ile402=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2922419	NM_147127.5(EVC2):c.1146-19T>G	EVC2, LOC126806961	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2922035	NM_147127.5(EVC2):c.1470+11_1470+19del	EVC2, LOC126806961	Deletion (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2920907	NM_147127.5(EVC2):c.1470G>A (p.Arg490=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2607090	NM_147127.5(EVC2):c.1314G>C (p.Leu438Phe)	EVC2, LOC126806961 (L438F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581101	NM_147127.5(EVC2):c.1987G>T (p.Glu663Ter)	EVC2 (E583* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GPathogenic
Select item 2441306	NM_147127.5(EVC2):c.1284G>A (p.Met428Ile)	EVC2, LOC126806961 (M348I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2408816	NM_147127.5(EVC2):c.1289C>G (p.Ala430Gly)	EVC2, LOC126806961 (A430G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327016	NM_147127.5(EVC2):c.1217T>C (p.Ile406Thr)	EVC2, LOC126806961 (I326T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312531	NM_147127.5(EVC2):c.1361T>C (p.Leu454Ser)	EVC2, LOC126806961 (L374S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243018	NM_147127.5(EVC2):c.1267C>A (p.Gln423Lys)	EVC2, LOC126806961 (Q343K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2191422	NM_147127.5(EVC2):c.1159A>G (p.Thr387Ala)	EVC2, LOC126806961 (T307A +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 2168147	NM_147127.5(EVC2):c.993C>T (p.Leu331=)	EVC2, LOC126806962	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2167293	NM_147127.5(EVC2):c.1319A>T (p.Glu440Val)	EVC2, LOC126806961 (E360V +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 2152076	NM_147127.5(EVC2):c.1263A>T (p.Ser421=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2150810	NM_147127.5(EVC2):c.1470+7C>T	EVC2, LOC126806961	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2144673	NM_147127.5(EVC2):c.1450C>T (p.Leu484=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2142485	NM_147127.5(EVC2):c.1470+6A>G	EVC2, LOC126806961	Single nucleotide variant (intron variant)	Curry-Hall syndrome +2 more	GUncertain significance
Select item 2138881	NM_147127.5(EVC2):c.1209C>A (p.Ser403Arg)	EVC2, LOC126806961 (S323R +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 2099331	NM_147127.5(EVC2):c.1206C>A (p.Ile402=)	LOC126806961, EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2085159	NM_147127.5(EVC2):c.1146-18G>T	EVC2, LOC126806961	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2080663	NM_147127.5(EVC2):c.1215T>A (p.Asp405Glu)	EVC2, LOC126806961 (D325E +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +2 more	GUncertain significance
Select item 2079870	NM_147127.5(EVC2):c.1196G>A (p.Arg399Gln)	EVC2, LOC126806961 (R319Q +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 2071438	NM_147127.5(EVC2):c.996C>T (p.Thr332=)	EVC2, LOC126806962	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2071080	NM_147127.5(EVC2):c.1341C>G (p.Tyr447Ter)	EVC2, LOC126806961 (Y447* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2069626	NM_147127.5(EVC2):c.1228C>G (p.Leu410Val)	EVC2, LOC126806961 (L410V +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 2040819	NM_147127.5(EVC2):c.1298A>G (p.Lys433Arg)	EVC2, LOC126806961 (K353R +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 2039223	NM_147127.5(EVC2):c.1345C>T (p.Arg449Trp)	EVC2, LOC126806961 (R369W +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 2037386	NM_147127.5(EVC2):c.1168C>T (p.Arg390Trp)	EVC2, LOC126806961 (R310W +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 2027876	NM_147127.5(EVC2):c.1453_1459dup (p.Ala487fs)	LOC126806961, EVC2 (A407fs +1 more)	Duplication (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 2024023	NM_147127.5(EVC2):c.1170G>A (p.Arg390=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2021579	NM_147127.5(EVC2):c.1342G>A (p.Asp448Asn)	EVC2, LOC126806961 (D368N +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 2012132	NM_147127.5(EVC2):c.1443A>G (p.Glu481=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2010666	NM_147127.5(EVC2):c.1456C>A (p.Arg486Ser)	EVC2, LOC126806961 (R406S +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 2007572	NM_147127.5(EVC2):c.1197A>C (p.Arg399=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2006369	NM_147127.5(EVC2):c.1383A>G (p.Glu461=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 1916831	NM_147127.5(EVC2):c.1166A>G (p.Asn389Ser)	EVC2, LOC126806961 (N389S +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 1726539	NM_147127.5(EVC2):c.1313del (p.Leu438fs)	EVC2, LOC126806961 (L358fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1726017	NM_147127.5(EVC2):c.1186G>T (p.Glu396Ter)	EVC2, LOC126806961 (E316* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1724940	NM_147127.5(EVC2):c.1261_1262insTATACACATCTGTGATC (p.Ser421fs)	EVC2, LOC126806961 (S341fs +1 more)	Insertion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1724602	NM_147127.5(EVC2):c.1313T>A (p.Leu438Ter)	EVC2, LOC126806961 (L358* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1724584	NM_147127.5(EVC2):c.1292_1296del (p.Val431fs)	EVC2, LOC126806961 (V351fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1724034	NM_147127.5(EVC2):c.1463del (p.Gly488fs)	EVC2, LOC126806961 (G408fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1713891	NM_147127.5(EVC2):c.1220T>C (p.Ile407Thr)	EVC2, LOC126806961 (I327T +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 1708927	NM_147127.5(EVC2):c.1214A>G (p.Asp405Gly)	EVC2, LOC126806961 (D325G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1666258	NM_147127.5(EVC2):c.1254C>T (p.Gly418=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 1659417	NM_147127.5(EVC2):c.1359A>T (p.Ala453=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1631437	NM_147127.5(EVC2):c.1392G>A (p.Lys464=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1608244	NM_147127.5(EVC2):c.1309C>T (p.Leu437=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1607822	NM_147127.5(EVC2):c.981G>A (p.Lys327=)	EVC2, LOC126806962	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 1598185	NM_147127.5(EVC2):c.1257C>T (p.His419=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1584101	NM_147127.5(EVC2):c.1470+20A>G	EVC2, LOC126806961	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign

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