G Hall - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30232	NM_004153.4(ORC1):c.314G>A (p.Arg105Gln)	ORC1 (R105Q)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome +2 more	GPathogenic/Likely pathogenic
Select item 738692	NM_147127.5(EVC2):c.3924C>T (p.Asp1308=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2056108	NM_147127.5(EVC2):c.3919A>C (p.Met1307Leu)	EVC2 (M1307L +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 1567079	NM_147127.5(EVC2):c.3891T>C (p.Asn1297=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 761849	NM_147127.5(EVC2):c.3882C>T (p.Asn1294=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2937205	NM_147127.5(EVC2):c.3868A>C (p.Arg1290=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 1158318	NM_147127.5(EVC2):c.3867C>T (p.Pro1289=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1095627	NM_147127.5(EVC2):c.3858C>T (p.His1286=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +2 more	GLikely benign
Select item 1016807	NM_147127.5(EVC2):c.3854T>C (p.Leu1285Pro)	EVC2 (L1205P +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 1092303	NM_147127.5(EVC2):c.3853C>T (p.Leu1285=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2932913	NM_147127.5(EVC2):c.3849C>A (p.Ile1283=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 1081881	NM_147127.5(EVC2):c.3849C>T (p.Ile1283=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1097998	NM_147127.5(EVC2):c.3825C>T (p.Phe1275=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1586745	NM_147127.5(EVC2):c.3822A>C (p.Ile1274=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2935304	NM_147127.5(EVC2):c.3819T>C (p.Phe1273=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2926132	NM_147127.5(EVC2):c.3816C>G (p.Leu1272=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 102430	NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter)	EVC2 (L1266* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2945295	NM_147127.5(EVC2):c.3796T>C (p.Leu1266=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 3388	NM_147127.5(EVC2):c.3793del (p.Leu1265fs)	EVC2 (L1265fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome	GPathogenic
Select item 1474732	NM_147127.5(EVC2):c.3779C>T (p.Ala1260Val)	EVC2 (A1180V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2945444	NM_147127.5(EVC2):c.3774A>C (p.Val1258=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 772638	NM_147127.5(EVC2):c.3771T>C (p.Ile1257=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2931780	NM_147127.5(EVC2):c.3760C>G (p.Pro1254Ala)	EVC2 (P1254A +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 1090732	NM_147127.5(EVC2):c.3759C>T (p.Ala1253=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2953653	NM_147127.5(EVC2):c.3750C>A (p.Gly1250=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2024286	NM_147127.5(EVC2):c.3750C>G (p.Gly1250=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1104306	NM_147127.5(EVC2):c.3750C>T (p.Gly1250=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2948138	NM_147127.5(EVC2):c.3734C>A (p.Ser1245Ter)	EVC2 (S1165* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2198027	NM_147127.5(EVC2):c.3730C>T (p.Leu1244=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2930945	NM_147127.5(EVC2):c.3729C>T (p.His1243=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1613470	NM_147127.5(EVC2):c.3726A>C (p.Pro1242=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2048955	NM_147127.5(EVC2):c.3724C>A (p.Pro1242Thr)	EVC2 (P1242T +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 1331219	NM_147127.5(EVC2):c.3718A>C (p.Ser1240Arg)	EVC2 (S1160R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1097894	NM_147127.5(EVC2):c.3702A>C (p.Ile1234=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 439671	NM_147127.5(EVC2):c.3702A>G (p.Ile1234Met)	EVC2 (I1234M +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2021929	NM_147127.5(EVC2):c.3687dup (p.Arg1230fs)	EVC2 (R1230fs +1 more)	Duplication (frameshift variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 1613217	NM_147127.5(EVC2):c.3687C>G (p.Leu1229=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 553833	NM_147127.5(EVC2):c.3660del (p.Ser1220fs)	EVC2 (S1140fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1583905	NM_147127.5(EVC2):c.3660-5T>C	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1610000	NM_147127.5(EVC2):c.3660-6C>T	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2937478	NM_147127.5(EVC2):c.3660-12C>A	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2927806	NM_147127.5(EVC2):c.3660-12C>T	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2950590	NM_147127.5(EVC2):c.3660-15T>C	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2948272	NM_147127.5(EVC2):c.3660-18C>G	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2932736	NM_147127.5(EVC2):c.3660-18C>T	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 516538	NM_147127.5(EVC2):c.3660-18C>A	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +3 more	GBenign
Select item 2924815	NM_147127.5(EVC2):c.3659+20C>T	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2927867	NM_147127.5(EVC2):c.3659+14C>G	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2927870	NM_147127.5(EVC2):c.3659+12C>T	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 435102	NM_147127.5(EVC2):c.3659+8T>C	EVC2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 999739	NM_147127.5(EVC2):c.3659+5T>C	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 2933481	NM_147127.5(EVC2):c.3659+3A>C	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 348980	NM_147127.5(EVC2):c.3659+2T>C	EVC2	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1386123	NM_147127.5(EVC2):c.3655C>T (p.Gln1219Ter)	EVC2 (Q1139* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 572929	NM_147127.5(EVC2):c.3644G>A (p.Arg1215His)	EVC2 (R1215H +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GUncertain significance
Select item 348981	NM_147127.5(EVC2):c.3643C>T (p.Arg1215Cys)	EVC2 (R1215C +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 2954339	NM_147127.5(EVC2):c.3642C>G (p.Ala1214=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2926848	NM_147127.5(EVC2):c.3642C>T (p.Ala1214=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 1101410	NM_147127.5(EVC2):c.3636G>C (p.Leu1212=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 1564293	NM_147127.5(EVC2):c.3634C>T (p.Leu1212=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1080557	NM_147127.5(EVC2):c.3609G>C (p.Leu1203=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 553692	NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter)	EVC2 (R1200* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1621249	NM_147127.5(EVC2):c.3588T>C (p.Asp1196=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1024421	NM_147127.5(EVC2):c.3579A>C (p.Gln1193His)	EVC2 (Q1113H +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 2928302	NM_147127.5(EVC2):c.3570C>T (p.Ser1190=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2950391	NM_147127.5(EVC2):c.3564C>T (p.His1188=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2934189	NM_147127.5(EVC2):c.3558-6C>G	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 793096	NM_147127.5(EVC2):c.3558-6C>T	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1110707	NM_147127.5(EVC2):c.3558-7C>T	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2951410	NM_147127.5(EVC2):c.3558-12T>C	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2931214	NM_147127.5(EVC2):c.3557+20T>C	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2927788	NM_147127.5(EVC2):c.3557+15G>C	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2926342	NM_147127.5(EVC2):c.3557+9C>G	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 1670517	NM_147127.5(EVC2):c.3557+9C>T	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1159103	NM_147127.5(EVC2):c.3557+7G>C	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2200768	NM_147127.5(EVC2):c.3553C>T (p.Arg1185Trp)	EVC2 (R1185W +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 1145790	NM_147127.5(EVC2):c.3553C>A (p.Arg1185=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1092149	NM_147127.5(EVC2):c.3546G>C (p.Val1182=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2178263	NM_147127.5(EVC2):c.3544G>C (p.Val1182Leu)	EVC2 (V1102L +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 733595	NM_147127.5(EVC2):c.3543C>T (p.Asp1181=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1558791	NM_147127.5(EVC2):c.3540C>G (p.Ala1180=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 719818	NM_147127.5(EVC2):c.3540C>T (p.Ala1180=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2197397	NM_147127.5(EVC2):c.3531G>C (p.Ala1177=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2163013	NM_147127.5(EVC2):c.3530C>T (p.Ala1177Val)	EVC2 (A1177V +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 1132434	NM_147127.5(EVC2):c.3525C>T (p.Gly1175=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 771811	NM_147127.5(EVC2):c.3519C>T (p.Ser1173=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +2 more	GLikely benign
Select item 195539	NM_147127.5(EVC2):c.3507C>T (p.His1169=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +3 more	GBenign
Select item 348982	NM_147127.5(EVC2):c.3505C>T (p.His1169Tyr)	EVC2 (H1169Y +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +2 more	GUncertain significance
Select item 2089745	NM_147127.5(EVC2):c.3504C>T (p.Asp1168=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 1613820	NM_147127.5(EVC2):c.3489C>G (p.Thr1163=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 722816	NM_147127.5(EVC2):c.3489C>T (p.Thr1163=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2141991	NM_147127.5(EVC2):c.3488C>T (p.Thr1163Ile)	EVC2 (T1163I +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +2 more	GUncertain significance
Select item 1391565	NM_147127.5(EVC2):c.3482C>T (p.Ser1161Leu)	EVC2 (S1081L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2924915	NM_147127.5(EVC2):c.3475C>T (p.Leu1159=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 1146313	NM_147127.5(EVC2):c.3474G>C (p.Leu1158=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2947320	NM_147127.5(EVC2):c.3472C>T (p.Leu1158=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2116757	NM_147127.5(EVC2):c.3471C>A (p.Ala1157=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1141500	NM_147127.5(EVC2):c.3471C>G (p.Ala1157=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2926547	NM_147127.5(EVC2):c.3470C>G (p.Ala1157Gly)	EVC2 (A1077G +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 1152482	NM_147127.5(EVC2):c.3466C>T (p.Leu1156=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign

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