ClinVar for Gene (Select 10058) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357313	NM_005689.4(ABCB6):c.1589_1590del (p.Tyr530fs)	ABCB6 (Y484fs +1 more)	Deletion (frameshift variant)	ABCB6-related disorder	GLikely pathogenic
Select item 3338265	NM_005689.4(ABCB6):c.316T>C (p.Tyr106His)	ABCB6 (Y106H)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 7	GBenign
Select item 3338261	NM_005689.4(ABCB6):c.683G>T (p.Ser228Ile)	ABCB6 (S228I)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, isolated, with coloboma 7	GLikely benign
Select item 3292901	NM_005689.4(ABCB6):c.790G>A (p.Val264Met)	ABCB6 (V218M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292804	NM_005689.4(ABCB6):c.734A>G (p.Lys245Arg)	ABCB6 (K245R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292708	NM_005689.4(ABCB6):c.254C>T (p.Ala85Val)	ABCB6 (A85V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292608	NM_005689.4(ABCB6):c.1955A>G (p.Gln652Arg)	ABCB6 (Q606R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292509	NM_005689.4(ABCB6):c.413T>C (p.Met138Thr)	ABCB6 (M138T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292418	NM_005689.4(ABCB6):c.1874C>A (p.Ser625Tyr)	ABCB6 (S579Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3124996	NM_005689.4(ABCB6):c.881C>A (p.Thr294Asn)	ABCB6 (T248N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124920	NM_005689.4(ABCB6):c.590G>A (p.Gly197Glu)	ABCB6 (G197E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3124825	NM_005689.4(ABCB6):c.526G>A (p.Ala176Thr)	ABCB6 (A176T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124714	NM_005689.4(ABCB6):c.317A>C (p.Tyr106Ser)	ABCB6 (Y106S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124640	NM_005689.4(ABCB6):c.302C>G (p.Ala101Gly)	ABCB6 (A101G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124440	NM_005689.4(ABCB6):c.230T>A (p.Leu77Gln)	ABCB6 (L77Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124345	NM_005689.4(ABCB6):c.1796A>G (p.Tyr599Cys)	ABCB6 (Y553C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124300	NM_005689.4(ABCB6):c.1705A>G (p.Lys569Glu)	ABCB6 (K523E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124272	NM_005689.4(ABCB6):c.1658T>C (p.Met553Thr)	ABCB6 (M507T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124091	NM_005689.4(ABCB6):c.1397A>G (p.Tyr466Cys)	ABCB6 (Y466C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3123974	NM_005689.4(ABCB6):c.1298A>C (p.Glu433Ala)	ABCB6 (E433A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3123947	NM_005689.4(ABCB6):c.128C>A (p.Ala43Asp)	ABCB6 (A43D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067307	NM_005689.4(ABCB6):c.867T>C (p.Ile289=)	ABCB6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3066330	NM_005689.4(ABCB6):c.1452+2T>A	ABCB6	Single nucleotide variant (splice donor variant)	Dyschromatosis universalis hereditaria 3	GLikely pathogenic
Select item 3065232	NM_005689.4(ABCB6):c.2029A>T (p.Asn677Tyr)	ABCB6 (N631Y +1 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 3	GUncertain significance
Select item 3045188	NM_005689.4(ABCB6):c.2196G>A (p.Lys732=)	ABCB6	Single nucleotide variant (synonymous variant)	ABCB6-related disorder	GLikely benign
Select item 3025236	NM_005689.4(ABCB6):c.1276+7G>A	ABCB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3024659	NM_005689.4(ABCB6):c.649C>A (p.Gln217Lys)	ABCB6 (Q217K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2989026	NM_005689.4(ABCB6):c.1908G>C (p.Leu636=)	ABCB6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984954	NM_005689.4(ABCB6):c.1988G>A (p.Arg663Gln)	ABCB6 (R617Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982441	NM_005689.4(ABCB6):c.1331C>T (p.Thr444Ile)	ABCB6 (T444I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981219	NM_005689.4(ABCB6):c.1324A>G (p.Met442Val)	ABCB6 (M396V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980654	NM_005689.4(ABCB6):c.1355G>A (p.Arg452Gln)	ABCB6 (R406Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961219	NM_005689.4(ABCB6):c.2144-17G>A	ABCB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959818	NM_005689.4(ABCB6):c.2351+6G>A	ABCB6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2958471	NM_005689.4(ABCB6):c.970+13C>T	ABCB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958130	NM_005689.4(ABCB6):c.1277-14C>G	ABCB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2899903	NM_005689.4(ABCB6):c.1579-7G>A	ABCB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896613	NM_005689.4(ABCB6):c.1783G>A (p.Val595Met)	ABCB6 (V595M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895044	NM_005689.4(ABCB6):c.916G>A (p.Val306Ile)	ABCB6 (V260I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2890569	NM_005689.4(ABCB6):c.738C>G (p.Leu246=)	ABCB6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882015	NM_005689.4(ABCB6):c.1169A>G (p.Asn390Ser)	ABCB6 (N344S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865247	NM_005689.4(ABCB6):c.1622A>G (p.Tyr541Cys)	ABCB6 (Y541C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2862558	NM_005689.4(ABCB6):c.376del (p.Val126fs)	ABCB6 (V126fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2851475	NM_005689.4(ABCB6):c.2053C>T (p.Arg685Cys)	ABCB6 (R639C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2765011	NM_005689.4(ABCB6):c.994T>C (p.Phe332Leu)	ABCB6 (F286L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764917	NM_005689.4(ABCB6):c.1969-6C>T	ABCB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2737020	NM_005689.4(ABCB6):c.926dup (p.Tyr309Ter)	ABCB6 (Y309* +1 more)	Duplication (nonsense)	not provided	GLikely benign
Select item 2716592	NM_005689.4(ABCB6):c.633C>G (p.Pro211=)	ABCB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2712743	NM_005689.4(ABCB6):c.1561A>G (p.Thr521Ala)	ABCB6 (T521A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2682814	NM_005689.4(ABCB6):c.1402G>T (p.Ala468Ser)	ABCB6 (A422S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682812	NM_005689.4(ABCB6):c.1979C>T (p.Ala660Val)	ABCB6 (A614V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682811	NM_005689.4(ABCB6):c.1979C>A (p.Ala660Asp)	ABCB6 (A614D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651916	NM_005689.4(ABCB6):c.317A>G (p.Tyr106Cys)	ABCB6 (Y106C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651915	NM_005689.4(ABCB6):c.953G>T (p.Gly318Val)	ABCB6 (G272V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651914	NM_005689.4(ABCB6):c.1452+4A>G	ABCB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2651913	NM_005689.4(ABCB6):c.2314G>T (p.Val772Phe)	ABCB6 (V726F +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2637002	NM_005689.4(ABCB6):c.2313A>C (p.Lys771Asn)	ABCB6 (K725N +1 more)	Single nucleotide variant (missense variant)	ABCB6-related disorder	GUncertain significance
Select item 2635838	NM_005689.4(ABCB6):c.1751G>A (p.Arg584His)	ABCB6 (R538H +1 more)	Single nucleotide variant (missense variant)	ABCB6-related disorder	GUncertain significance
Select item 2631605	NM_005689.4(ABCB6):c.2395G>A (p.Asp799Asn)	ABCB6 (D753N +1 more)	Single nucleotide variant (missense variant)	ABCB6-related disorder +1 more	GUncertain significance
Select item 2629864	NM_005689.4(ABCB6):c.1619T>G (p.Leu540Arg)	ABCB6 (L494R +1 more)	Single nucleotide variant (missense variant)	ABCB6-related disorder	GUncertain significance
Select item 2629234	NM_005689.4(ABCB6):c.650A>G (p.Gln217Arg)	ABCB6 (Q217R)	Single nucleotide variant (missense variant +1 more)	ABCB6-related disorder	GUncertain significance
Select item 2621409	NM_005689.4(ABCB6):c.1030C>T (p.Arg344Trp)	ABCB6 (R298W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592155	NM_005689.4(ABCB6):c.1094G>A (p.Arg365His)	ABCB6 (R365H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589843	NM_005689.4(ABCB6):c.1589A>G (p.Tyr530Cys)	ABCB6 (Y484C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582991	NM_005689.4(ABCB6):c.683G>A (p.Ser228Asn)	ABCB6 (S228N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2572719	NM_005689.4(ABCB6):c.1083C>G (p.His361Gln)	ABCB6 (H315Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2554145	NM_005689.4(ABCB6):c.581T>C (p.Val194Ala)	ABCB6 (V194A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551819	NM_005689.4(ABCB6):c.343A>C (p.Ser115Arg)	ABCB6 (S115R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547576	NM_005689.4(ABCB6):c.949G>T (p.Gly317Trp)	ABCB6 (G271W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541123	NM_005689.4(ABCB6):c.2449G>T (p.Val817Leu)	ABCB6 (V771L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529676	NM_005689.4(ABCB6):c.1267C>T (p.Leu423Phe)	ABCB6 (L377F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512319	NM_005689.4(ABCB6):c.2261C>T (p.Thr754Met)	ABCB6 (T708M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505880	NM_005689.4(ABCB6):c.1374_1375insCA (p.Asn459fs)	ABCB6 (N413fs +1 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2495197	NM_005689.4(ABCB6):c.1405G>C (p.Glu469Gln)	ABCB6 (E423Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487852	NM_005689.4(ABCB6):c.1315C>T (p.Arg439Cys)	ABCB6 (R393C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471612	NM_005689.4(ABCB6):c.139G>A (p.Ala47Thr)	ABCB6 (A47T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446345	NM_005689.4(ABCB6):c.1533_1543dup (p.Leu515fs)	ABCB6 (L469fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2442543	NM_005689.4(ABCB6):c.515A>T (p.Gln172Leu)	ABCB6 (Q172L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438736	NM_005689.4(ABCB6):c.659A>T (p.Glu220Val)	ABCB6 (E220V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2414419	NM_005689.4(ABCB6):c.2059G>A (p.Gly687Ser)	ABCB6 (G641S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2397476	NM_005689.4(ABCB6):c.2327G>A (p.Arg776His)	ABCB6 (R776H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369647	NM_005689.4(ABCB6):c.1349G>A (p.Arg450Gln)	ABCB6 (R450Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2348962	NM_005689.4(ABCB6):c.968C>T (p.Thr323Ile)	ABCB6 (T277I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346081	NM_005689.4(ABCB6):c.1319G>A (p.Arg440His)	ABCB6 (R440H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339438	NM_005689.4(ABCB6):c.2063G>A (p.Arg688His)	ABCB6 (R688H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337977	NM_005689.4(ABCB6):c.1508T>C (p.Leu503Pro)	ABCB6 (L457P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326554	NM_005689.4(ABCB6):c.1726G>A (p.Asp576Asn)	ABCB6 (D530N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324627	NM_005689.4(ABCB6):c.928G>C (p.Val310Leu)	ABCB6 (V310L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317297	NM_005689.4(ABCB6):c.571C>A (p.Leu191Met)	ABCB6 (L191M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316938	NM_005689.4(ABCB6):c.1342G>A (p.Ala448Thr)	ABCB6 (A448T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290710	NM_005689.4(ABCB6):c.2338G>A (p.Val780Ile)	ABCB6 (V734I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285556	NM_005689.4(ABCB6):c.1430G>A (p.Arg477Gln)	ABCB6 (R477Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250435	NM_005689.4(ABCB6):c.2359A>T (p.Thr787Ser)	ABCB6 (T741S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249524	NM_005689.4(ABCB6):c.2062C>G (p.Arg688Gly)	ABCB6 (R688G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245849	NM_005689.4(ABCB6):c.2479G>A (p.Gly827Arg)	ABCB6 (G827R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235224	NM_005689.4(ABCB6):c.836A>G (p.Asn279Ser)	ABCB6 (N233S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234566	NM_005689.4(ABCB6):c.304C>T (p.Pro102Ser)	ABCB6 (P102S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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