ClinVar for Gene (Select 64800) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274646	NM_022785.4(EFCAB6):c.4271C>G (p.Ala1424Gly)	EFCAB6, EFCAB6-AS1 (A1424G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274645	NM_022785.4(EFCAB6):c.3335A>G (p.Tyr1112Cys)	EFCAB6 (Y1112C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274644	NM_022785.4(EFCAB6):c.1020G>C (p.Gln340His)	EFCAB6 (Q340H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274643	NM_022785.4(EFCAB6):c.1948C>T (p.Pro650Ser)	EFCAB6 (P498S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274641	NM_022785.4(EFCAB6):c.3037G>A (p.Gly1013Arg)	EFCAB6 (G861R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274640	NM_022785.4(EFCAB6):c.4032C>T (p.Asn1344=)	EFCAB6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3274639	NM_022785.4(EFCAB6):c.930C>A (p.Asp310Glu)	EFCAB6 (D158E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274638	NM_022785.4(EFCAB6):c.4487T>G (p.Leu1496Arg)	EFCAB6, EFCAB6-AS1 (L1344R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274637	NM_022785.4(EFCAB6):c.2417G>T (p.Cys806Phe)	EFCAB6 (C654F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274636	NM_022785.4(EFCAB6):c.2468C>T (p.Pro823Leu)	EFCAB6 (P671L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274635	NM_022785.4(EFCAB6):c.2213G>A (p.Arg738Lys)	EFCAB6 (R738K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274634	NM_022785.4(EFCAB6):c.2768C>G (p.Pro923Arg)	EFCAB6 (P771R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274633	NM_022785.4(EFCAB6):c.2582A>G (p.Asn861Ser)	EFCAB6 (N709S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274632	NM_022785.4(EFCAB6):c.4440G>C (p.Glu1480Asp)	EFCAB6, EFCAB6-AS1 (E1480D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274630	NM_022785.4(EFCAB6):c.1849A>G (p.Lys617Glu)	EFCAB6 (K465E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274629	NM_022785.4(EFCAB6):c.4252A>T (p.Thr1418Ser)	EFCAB6, EFCAB6-AS1 (T1266S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274628	NM_022785.4(EFCAB6):c.605A>G (p.Glu202Gly)	EFCAB6 (E202G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087495	NM_022785.4(EFCAB6):c.887C>T (p.Ser296Leu)	EFCAB6 (S296L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087493	NM_022785.4(EFCAB6):c.568G>A (p.Gly190Arg)	EFCAB6 (G190R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087492	NM_022785.4(EFCAB6):c.537A>T (p.Lys179Asn)	EFCAB6 (K179N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087491	NM_022785.4(EFCAB6):c.4142A>G (p.Tyr1381Cys)	EFCAB6, EFCAB6-AS1 (Y1381C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087490	NM_022785.4(EFCAB6):c.3988A>G (p.Lys1330Glu)	EFCAB6 (K1330E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087489	NM_022785.4(EFCAB6):c.395T>G (p.Leu132Arg)	EFCAB6 (L132R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087488	NM_022785.4(EFCAB6):c.3953G>A (p.Arg1318Gln)	EFCAB6 (R1318Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087487	NM_022785.4(EFCAB6):c.3914C>T (p.Pro1305Leu)	EFCAB6 (P1153L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087484	NM_022785.4(EFCAB6):c.3875C>A (p.Pro1292His)	EFCAB6 (P1140H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087483	NM_022785.4(EFCAB6):c.3863C>T (p.Ser1288Leu)	EFCAB6 (S1136L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087482	NM_022785.4(EFCAB6):c.3781G>T (p.Gly1261Trp)	EFCAB6 (G1109W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087481	NM_022785.4(EFCAB6):c.3461C>T (p.Pro1154Leu)	EFCAB6 (P1002L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087480	NM_022785.4(EFCAB6):c.3453A>T (p.Lys1151Asn)	EFCAB6 (K999N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087479	NM_022785.4(EFCAB6):c.3283G>A (p.Gly1095Arg)	EFCAB6 (G943R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087478	NM_022785.4(EFCAB6):c.326A>T (p.Glu109Val)	EFCAB6 (E109V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087477	NM_022785.4(EFCAB6):c.301G>A (p.Asp101Asn)	EFCAB6 (D101N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087476	NM_022785.4(EFCAB6):c.2878G>A (p.Asp960Asn)	EFCAB6 (D808N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087475	NM_022785.4(EFCAB6):c.2855C>T (p.Thr952Ile)	EFCAB6 (T800I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087474	NM_022785.4(EFCAB6):c.2831A>G (p.Glu944Gly)	EFCAB6 (E792G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087473	NM_022785.4(EFCAB6):c.2825A>G (p.Gln942Arg)	EFCAB6 (Q790R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087472	NM_022785.4(EFCAB6):c.2609G>A (p.Arg870Gln)	EFCAB6 (R870Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087471	NM_022785.4(EFCAB6):c.2603G>A (p.Arg868Gln)	EFCAB6 (R716Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087470	NM_022785.4(EFCAB6):c.250A>C (p.Thr84Pro)	EFCAB6 (T84P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087469	NM_022785.4(EFCAB6):c.2462T>G (p.Ile821Ser)	EFCAB6 (I669S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087468	NM_022785.4(EFCAB6):c.2230C>T (p.Arg744Trp)	EFCAB6 (R744W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087467	NM_022785.4(EFCAB6):c.220G>A (p.Glu74Lys)	EFCAB6 (E74K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087466	NM_022785.4(EFCAB6):c.2161G>A (p.Val721Met)	EFCAB6 (V569M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087465	NM_022785.4(EFCAB6):c.2129C>T (p.Pro710Leu)	EFCAB6 (P558L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087464	NM_022785.4(EFCAB6):c.2113G>A (p.Gly705Arg)	EFCAB6 (G705R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087462	NM_022785.4(EFCAB6):c.1925G>A (p.Arg642Gln)	EFCAB6 (R642Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087461	NM_022785.4(EFCAB6):c.1817C>G (p.Thr606Ser)	EFCAB6 (T454S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087460	NM_022785.4(EFCAB6):c.1699G>C (p.Ala567Pro)	EFCAB6 (A415P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087458	NM_022785.4(EFCAB6):c.1567C>T (p.Arg523Cys)	EFCAB6 (R371C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087457	NM_022785.4(EFCAB6):c.1534A>G (p.Met512Val)	EFCAB6 (M360V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087456	NM_022785.4(EFCAB6):c.1466T>C (p.Leu489Pro)	EFCAB6 (L337P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087455	NM_022785.4(EFCAB6):c.12G>A (p.Met4Ile)	EFCAB6 (M4I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087454	NM_022785.4(EFCAB6):c.1187A>G (p.Lys396Arg)	EFCAB6 (K244R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062463	GRCh37/hg19 22q13.2-13.31(chr22:43920110-46548382)x1	ARHGAP8, ATXN10 +24 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 2685681	GRCh37/hg19 22q13.2(chr22:44059189-44180197)x1	EFCAB6	Copy number loss	not provided	GUncertain significance
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic
Select item 2653270	NM_022785.4(EFCAB6):c.480A>G (p.Arg160=)	EFCAB6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653269	NM_022785.4(EFCAB6):c.2098+4G>C	EFCAB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2653268	NM_022785.4(EFCAB6):c.3948G>T (p.Arg1316Ser)	EFCAB6 (R1164S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2619644	NM_022785.4(EFCAB6):c.3248A>C (p.Lys1083Thr)	EFCAB6 (K1083T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618623	NM_022785.4(EFCAB6):c.970A>T (p.Ile324Phe)	EFCAB6 (I172F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614603	NM_022785.4(EFCAB6):c.4079G>A (p.Ser1360Asn)	EFCAB6, EFCAB6-AS1 (S1208N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613533	NM_022785.4(EFCAB6):c.79T>A (p.Ser27Thr)	EFCAB6 (S27T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608182	NM_022785.4(EFCAB6):c.401G>C (p.Arg134Thr)	EFCAB6 (R134T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601809	NM_022785.4(EFCAB6):c.1707A>G (p.Ile569Met)	EFCAB6 (I417M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2590683	NM_022785.4(EFCAB6):c.470G>A (p.Arg157His)	EFCAB6 (R5H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590682	NM_022785.4(EFCAB6):c.1025T>G (p.Met342Arg)	EFCAB6 (M190R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590656	NM_022785.4(EFCAB6):c.2161G>T (p.Val721Leu)	EFCAB6 (V721L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2588378	NM_022785.4(EFCAB6):c.3571A>G (p.Met1191Val)	EFCAB6 (M1191V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568558	NM_022785.4(EFCAB6):c.4279C>T (p.Arg1427Cys)	EFCAB6, EFCAB6-AS1 (R1275C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542417	NM_022785.4(EFCAB6):c.2998C>G (p.Leu1000Val)	EFCAB6 (L1000V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538696	NM_022785.4(EFCAB6):c.2171A>G (p.His724Arg)	EFCAB6 (H572R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536659	NM_022785.4(EFCAB6):c.724G>A (p.Asp242Asn)	EFCAB6 (D242N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523017	NM_022785.4(EFCAB6):c.3680A>G (p.Asn1227Ser)	EFCAB6 (N1075S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519375	NM_022785.4(EFCAB6):c.2665G>C (p.Glu889Gln)	EFCAB6 (E737Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512573	NM_022785.4(EFCAB6):c.2326A>G (p.Asn776Asp)	EFCAB6 (N776D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511629	NM_022785.4(EFCAB6):c.205A>G (p.Thr69Ala)	EFCAB6 (T69A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510481	NM_022785.4(EFCAB6):c.3417G>C (p.Glu1139Asp)	EFCAB6 (E987D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496315	NM_022785.4(EFCAB6):c.1594A>G (p.Ile532Val)	EFCAB6 (I380V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2493078	NM_022785.4(EFCAB6):c.2176A>T (p.Ile726Phe)	EFCAB6 (I574F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473479	NM_022785.4(EFCAB6):c.3652G>A (p.Asp1218Asn)	EFCAB6 (D1066N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472589	NM_022785.4(EFCAB6):c.863A>G (p.Glu288Gly)	EFCAB6 (E136G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470365	NM_022785.4(EFCAB6):c.824C>T (p.Ser275Phe)	EFCAB6 (S275F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459899	NM_022785.4(EFCAB6):c.4370C>T (p.Ala1457Val)	EFCAB6, EFCAB6-AS1 (A1457V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409808	NM_022785.4(EFCAB6):c.2152A>G (p.Lys718Glu)	EFCAB6 (K566E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406461	NM_022785.4(EFCAB6):c.3657A>C (p.Arg1219Ser)	EFCAB6 (R1067S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403841	NM_022785.4(EFCAB6):c.2182G>A (p.Ala728Thr)	EFCAB6 (A576T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403090	NM_022785.4(EFCAB6):c.802C>T (p.Arg268Cys)	EFCAB6 (R268C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402902	NM_022785.4(EFCAB6):c.3196G>A (p.Val1066Ile)	EFCAB6 (V914I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400373	NM_022785.4(EFCAB6):c.949G>A (p.Val317Met)	EFCAB6 (V165M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397230	NM_022785.4(EFCAB6):c.1919A>G (p.Lys640Arg)	EFCAB6 (K488R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394243	NM_022785.4(EFCAB6):c.3898G>A (p.Val1300Met)	EFCAB6 (V1300M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385017	NM_022785.4(EFCAB6):c.3506G>A (p.Arg1169His)	EFCAB6 (R1169H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380169	NM_022785.4(EFCAB6):c.3625G>A (p.Val1209Ile)	EFCAB6 (V1209I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378005	NM_022785.4(EFCAB6):c.2237C>T (p.Pro746Leu)	EFCAB6 (P594L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372401	NM_022785.4(EFCAB6):c.522T>G (p.Ile174Met)	EFCAB6 (I22M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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