10058[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 1268308	NC_000002.12:g.219209720T>C	ABCB6	Single nucleotide variant	not provided	GBenign
Select item 2071873	NM_005689.4(ABCB6):c.2510C>T (p.Pro837Leu)	ABCB6 (P837L +1 more)	Single nucleotide variant (missense variant)	not provided	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 2175126	NM_005689.4(ABCB6):c.2465G>T (p.Trp822Leu)	ABCB6 (W776L +1 more)	Single nucleotide variant (missense variant)	not provided	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 30482	NM_005689.4(ABCB6):c.2431C>G (p.Leu811Val)	ABCB6 (L811V +1 more)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 7	GPathogenic
Select item 2062898	NM_005689.4(ABCB6):c.2425G>A (p.Glu809Lys)	ABCB6 (E763K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1242799	NM_005689.4(ABCB6):c.2421-25A>T	ABCB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294583	NM_005689.4(ABCB6):c.2421-79C>T	ABCB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 740242	NM_005689.4(ABCB6):c.2415G>A (p.Arg805=)	ABCB6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1554361	NM_005689.4(ABCB6):c.2373T>C (p.Ala791=)	ABCB6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1241692	NM_005689.4(ABCB6):c.2352-25A>G	ABCB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1896001	NM_005689.4(ABCB6):c.2351+12C>T	ABCB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2959818	NM_005689.4(ABCB6):c.2351+6G>A	ABCB6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1334672	NM_005689.4(ABCB6):c.2350A>G (p.Arg784Gly)	ABCB6 (R738G +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 30481	NM_005689.4(ABCB6):c.2256+2T>G	ABCB6	Single nucleotide variant (splice donor variant)	Langereis blood group	GAffects
Select item 1469982	NM_005689.4(ABCB6):c.2216G>A (p.Arg739His)	ABCB6 (R739H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993667	NM_005689.4(ABCB6):c.2215C>T (p.Arg739Cys)	ABCB6 (R693C +1 more)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 7 +2 more	GUncertain significance
Select item 1618413	NM_005689.4(ABCB6):c.2202C>G (p.Arg734=)	ABCB6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1301997	NM_005689.4(ABCB6):c.2185G>A (p.Gly729Ser)	ABCB6 (G683S +1 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria +1 more	GConflicting classifications of pathogenicity
Select item 218181	NM_005689.4(ABCB6):c.2168G>A (p.Arg723Gln)	ABCB6 (R723Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1981126	NM_005689.4(ABCB6):c.2167C>T (p.Arg723Trp)	ABCB6 (R677W +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 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 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 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 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 2035693	NM_005689.4(ABCB6):c.2041G>A (p.Ala681Thr)	ABCB6 (A635T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 916022	NM_005689.4(ABCB6):c.2000G>C (p.Gly667Ala)	ABCB6 (G667A +1 more)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 7	GUncertain significance
Select item 1976507	NM_005689.4(ABCB6):c.1997T>C (p.Ile666Thr)	ABCB6 (I620T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 30480	NM_005689.4(ABCB6):c.1985_1986del (p.Leu662fs)	ABCB6 (L616fs +1 more)	Microsatellite (frameshift variant)	Langereis blood group	GAffects
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 2764917	NM_005689.4(ABCB6):c.1969-6C>T	ABCB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 727438	NM_005689.4(ABCB6):c.1943G>A (p.Arg648Gln)	ABCB6 (R602Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 30479	NM_005689.4(ABCB6):c.1942C>T (p.Arg648Ter)	ABCB6 (R648* +1 more)	Single nucleotide variant (nonsense)	Langereis blood group	GAffects
Select item 2989026	NM_005689.4(ABCB6):c.1908G>C (p.Leu636=)	ABCB6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1898766	NM_005689.4(ABCB6):c.1864-9A>G	ABCB6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1951566	NM_005689.4(ABCB6):c.1864-12C>T	ABCB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234476	NM_005689.4(ABCB6):c.1864-192C>T	ABCB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2044006	NM_005689.4(ABCB6):c.1863+8G>C	ABCB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1587281	NM_005689.4(ABCB6):c.1854A>C (p.Thr618=)	ABCB6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 133252	NM_005689.4(ABCB6):c.1766G>A (p.Arg589His)	ABCB6 (R589H +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1284646	NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser)	ABCB6 (G542S +1 more)	Single nucleotide variant (missense variant)	Hereditary coproporphyria +4 more	GConflicting classifications of pathogenicity
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 64648	NM_005689.4(ABCB6):c.1736G>A (p.Gly579Glu)	ABCB6 (G579E +1 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 3	GPathogenic
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 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 2054878	NM_005689.4(ABCB6):c.1694T>C (p.Phe565Ser)	ABCB6 (F519S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30478	NM_005689.4(ABCB6):c.1690_1691del (p.Met564fs)	ABCB6 (M518fs +1 more)	Deletion (frameshift variant)	Langereis blood group	GAffects
Select item 208249	NM_005689.4(ABCB6):c.1663C>A (p.Gln555Lys)	ABCB6 (Q555K +1 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 3	GPathogenic
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 253007	NM_005689.4(ABCB6):c.1656-1G>A	ABCB6	Single nucleotide variant (splice acceptor variant)	Langereis blood group	GAffects
Select item 1303313	NM_005689.4(ABCB6):c.1651T>G (p.Tyr551Asp)	ABCB6 (Y505D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 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 3357313	NM_005689.4(ABCB6):c.1589_1590del (p.Tyr530fs)	ABCB6 (Y484fs +1 more)	Deletion (frameshift variant)	ABCB6-related disorder	GLikely pathogenic
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 2899903	NM_005689.4(ABCB6):c.1579-7G>A	ABCB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278414	NM_005689.4(ABCB6):c.1578+52A>G	ABCB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 445477	NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser)	ABCB6 (T521S +1 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria +5 more	GBenign/Likely 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 2446345	NM_005689.4(ABCB6):c.1533_1543dup (p.Leu515fs)	ABCB6 (L469fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1283915	NM_005689.4(ABCB6):c.1511T>C (p.Val504Ala)	ABCB6 (V458A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 1704774	NM_005689.4(ABCB6):c.1502A>C (p.Gln501Pro)	ABCB6 (Q455P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301996	NM_005689.4(ABCB6):c.1474G>A (p.Ala492Thr)	ABCB6 (A446T +1 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria +4 more	GBenign/Likely benign
Select item 2651914	NM_005689.4(ABCB6):c.1452+4A>G	ABCB6	Single nucleotide variant (intron 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 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 2158681	NM_005689.4(ABCB6):c.1419G>A (p.Val473=)	ABCB6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2154812	NM_005689.4(ABCB6):c.1413C>T (p.Tyr471=)	ABCB6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1425582	NM_005689.4(ABCB6):c.1404C>T (p.Ala468=)	ABCB6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1987453	NM_005689.4(ABCB6):c.1386+15G>A	ABCB6	Single nucleotide variant (intron variant)	not provided	GBenign

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