BACH2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 147590	GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1	AKIRIN2, ANKRD6 +157 more	Copy number loss	See cases	GPathogenic
Select item 146127	GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1	LOC129389576, LOC129389577 +153 more	Copy number loss	See cases	GPathogenic
Select item 153749	GRCh38/hg38 6q15(chr6:89339079-92096042)x3	ANKRD6, BACH2 +60 more	Copy number gain	See cases	GUncertain significance
Select item 144893	GRCh38/hg38 6q15(chr6:89931798-91707636)x3	BACH2, CASC6 +33 more	Copy number gain	See cases	GUncertain significance
Select item 3048364	NM_021813.4(BACH2):c.*10T>A	BACH2	Single nucleotide variant (3 prime UTR variant)	BACH2-related disorder	GBenign
Select item 3040348	NM_021813.4(BACH2):c.*7G>A	BACH2	Single nucleotide variant (3 prime UTR variant)	BACH2-related disorder	GLikely benign
Select item 2900541	NM_021813.4(BACH2):c.2522C>G (p.Thr841Ser)	BACH2 (T841S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019016	NM_021813.4(BACH2):c.2520T>C (p.Tyr840=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818160	NM_021813.4(BACH2):c.2511G>A (p.Arg837=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2691322	NM_021813.4(BACH2):c.2505G>A (p.Gln835=)	BACH2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1666247	NM_021813.4(BACH2):c.2499C>T (p.Asp833=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1647015	NM_021813.4(BACH2):c.2481T>A (p.Thr827=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2128723	NM_021813.4(BACH2):c.2469C>T (p.Cys823=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2279751	NM_021813.4(BACH2):c.2458G>C (p.Val820Leu)	BACH2 (V820L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1572614	NM_021813.4(BACH2):c.2458G>A (p.Val820Met)	BACH2 (V820M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1122928	NM_021813.4(BACH2):c.2457C>T (p.Thr819=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708073	NM_021813.4(BACH2):c.2445C>T (p.Ser815=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1502841	NM_021813.4(BACH2):c.2428C>T (p.Pro810Ser)	BACH2 (P810S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2772100	NM_021813.4(BACH2):c.2424A>G (p.Gly808=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1662867	NM_021813.4(BACH2):c.2418G>C (p.Glu806Asp)	BACH2 (E806D)	Single nucleotide variant (missense variant)	Immunodeficiency 60 +1 more	GLikely benign
Select item 2671738	NM_021813.4(BACH2):c.2416G>C (p.Glu806Gln)	BACH2 (E806Q)	Single nucleotide variant (missense variant)	Immunodeficiency 60	GUncertain significance
Select item 2778319	NM_021813.4(BACH2):c.2411T>C (p.Phe804Ser)	BACH2 (F804S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1529486	NM_021813.4(BACH2):c.2403G>A (p.Pro801=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1408084	NM_021813.4(BACH2):c.2402C>T (p.Pro801Leu)	BACH2 (P801L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1928872	NM_021813.4(BACH2):c.2392G>T (p.Gly798Cys)	BACH2 (G798C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989040	NM_021813.4(BACH2):c.2386C>G (p.Leu796Val)	BACH2 (L796V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085080	NM_021813.4(BACH2):c.2385A>G (p.Arg795=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2195373	NM_021813.4(BACH2):c.2366A>C (p.Asn789Thr)	BACH2 (N789T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 625844	NM_021813.4(BACH2):c.2362G>A (p.Glu788Lys)	BACH2 (E788K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 780643	NM_021813.4(BACH2):c.2361C>T (p.Ser787=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1964252	NM_021813.4(BACH2):c.2339_2349del (p.Pro780fs)	BACH2 (P780fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1942625	NM_021813.4(BACH2):c.2340C>T (p.Pro780=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970744	NM_021813.4(BACH2):c.2339C>T (p.Pro780Leu)	BACH2 (P780L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2492480	NM_021813.4(BACH2):c.2338C>T (p.Pro780Ser)	BACH2 (P780S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2861724	NM_021813.4(BACH2):c.2337C>A (p.Pro779=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003267	NM_021813.4(BACH2):c.2335C>T (p.Pro779Ser)	BACH2 (P779S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1624668	NM_021813.4(BACH2):c.2334A>G (p.Gly778=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960815	NM_021813.4(BACH2):c.2331dup (p.Gly778fs)	BACH2 (G778fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2157229	NM_021813.4(BACH2):c.2332G>A (p.Gly778Arg)	BACH2 (G778R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1635080	NM_021813.4(BACH2):c.2331C>T (p.Pro777=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1622756	NM_021813.4(BACH2):c.2331C>G (p.Pro777=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1431493	NM_021813.4(BACH2):c.2327C>T (p.Pro776Leu)	BACH2 (P776L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011973	NM_021813.4(BACH2):c.2326C>G (p.Pro776Ala)	BACH2 (P776A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 870958	NM_021813.4(BACH2):c.2326C>A (p.Pro776Thr)	BACH2 (P776T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2831568	NM_021813.4(BACH2):c.2323G>A (p.Ala775Thr)	BACH2 (A775T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169946	NM_021813.4(BACH2):c.2322G>A (p.Ala774=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2169016	NM_021813.4(BACH2):c.2321C>T (p.Ala774Val)	BACH2 (A774V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062198	NM_021813.4(BACH2):c.2320G>A (p.Ala774Thr)	BACH2 (A774T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1597455	NM_021813.4(BACH2):c.2319C>T (p.Gly773=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1350310	NM_021813.4(BACH2):c.2315C>T (p.Pro772Leu)	BACH2 (P772L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1396475	NM_021813.4(BACH2):c.2313_2314delinsAA (p.Pro772Thr)	BACH2 (P772T)	Indel (missense variant)	not provided	GUncertain significance
Select item 1987312	NM_021813.4(BACH2):c.2308T>C (p.Leu770=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2062560	NM_021813.4(BACH2):c.2306G>A (p.Cys769Tyr)	BACH2 (C769Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810703	NM_021813.4(BACH2):c.2301C>G (p.Pro767=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1001343	NM_021813.4(BACH2):c.2296G>A (p.Val766Met)	BACH2 (V766M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166831	NM_021813.4(BACH2):c.2295C>T (p.Asn765=)	BACH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1473459	NM_021813.4(BACH2):c.2294A>G (p.Asn765Ser)	BACH2 (N765S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876907	NM_021813.4(BACH2):c.2289G>A (p.Gly763=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1523104	NM_021813.4(BACH2):c.2281G>T (p.Ala761Ser)	BACH2 (A761S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357844	NM_021813.4(BACH2):c.2281G>A (p.Ala761Thr)	BACH2 (A761T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1593453	NM_021813.4(BACH2):c.2280C>T (p.Cys760=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1014842	NM_021813.4(BACH2):c.2277A>G (p.Gln759=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1652286	NM_021813.4(BACH2):c.2268G>A (p.Ala756=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2531276	NM_021813.4(BACH2):c.2267C>A (p.Ala756Glu)	BACH2 (A756E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1357360	NM_021813.4(BACH2):c.2267C>T (p.Ala756Val)	BACH2 (A756V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2287590	NM_021813.4(BACH2):c.2263A>C (p.Ile755Leu)	BACH2 (I755L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1531054	NM_021813.4(BACH2):c.2253T>G (p.Ala751=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1663049	NM_021813.4(BACH2):c.2241G>A (p.Ala747=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1384696	NM_021813.4(BACH2):c.2240C>T (p.Ala747Val)	BACH2 (A747V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2974177	NM_021813.4(BACH2):c.2235C>T (p.Asn745=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 636771	NM_021813.4(BACH2):c.2230A>G (p.Ile744Val)	BACH2 (I744V)	Single nucleotide variant (missense variant)	BACH2-related disorder +2 more	GUncertain significance
Select item 3014652	NM_021813.4(BACH2):c.2228G>C (p.Ser743Thr)	BACH2 (S743T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969828	NM_021813.4(BACH2):c.2222C>T (p.Ala741Val)	BACH2 (A741V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1155295	NM_021813.4(BACH2):c.2220G>A (p.Thr740=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1100577	NM_021813.4(BACH2):c.2217C>T (p.Pro739=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1416278	NM_021813.4(BACH2):c.2203C>T (p.Pro735Ser)	BACH2 (P735S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060401	NM_021813.4(BACH2):c.2199C>G (p.Leu733=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012828	NM_021813.4(BACH2):c.2191C>T (p.Pro731Ser)	BACH2 (P731S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1649358	NM_021813.4(BACH2):c.2190C>T (p.Cys730=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1398282	NM_021813.4(BACH2):c.2183G>A (p.Arg728Gln)	BACH2 (R728Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181711	NM_021813.4(BACH2):c.2182C>T (p.Arg728Trp)	BACH2 (R728W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777874	NM_021813.4(BACH2):c.2175C>A (p.Ala725=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1977885	NM_021813.4(BACH2):c.2161G>A (p.Glu721Lys)	BACH2 (E721K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1167841	NM_021813.4(BACH2):c.2160C>T (p.Pro720=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1662544	NM_021813.4(BACH2):c.2158C>A (p.Pro720Thr)	BACH2 (P720T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1442076	NM_021813.4(BACH2):c.2151C>G (p.Ile717Met)	BACH2 (I717M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890429	NM_021813.4(BACH2):c.2144G>A (p.Arg715Gln)	BACH2 (R715Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010811	NM_021813.4(BACH2):c.2136A>G (p.Glu712=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1477072	NM_021813.4(BACH2):c.2132A>G (p.Gln711Arg)	BACH2 (Q711R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2060449	NM_021813.4(BACH2):c.2107T>C (p.Leu703=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719490	NM_021813.4(BACH2):c.2103A>G (p.Glu701=)	BACH2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1955130	NM_021813.4(BACH2):c.2048G>A (p.Cys683Tyr)	BACH2 (C683Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127183	NM_021813.4(BACH2):c.2044-4C>T	BACH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915932	NM_021813.4(BACH2):c.2044-7T>C	BACH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645971	NM_021813.4(BACH2):c.2044-11C>T	BACH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1570496	NM_021813.4(BACH2):c.2044-21_2044-20del	BACH2	Microsatellite (intron variant)	not provided	GLikely benign

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