BACH1[gene] and "single gene"[properties] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2468482	NM_001186.4(BACH1):c.82C>T (p.Arg28Trp)	BACH1 (R28W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132781	NM_001186.4(BACH1):c.103G>A (p.Asp35Asn)	BACH1 (D35N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485829	NM_001186.4(BACH1):c.181T>G (p.Ser61Ala)	BACH1 (S61A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543914	NM_001186.4(BACH1):c.190G>A (p.Val64Ile)	BACH1 (V64I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132784	NM_001186.4(BACH1):c.211C>G (p.Leu71Val)	BACH1 (L71V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132785	NM_001186.4(BACH1):c.221C>G (p.Thr74Ser)	BACH1 (T74S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541568	NM_001186.4(BACH1):c.241G>T (p.Val81Phe)	BACH1 (V81F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132786	NM_001186.4(BACH1):c.267G>C (p.Gln89His)	BACH1 (Q89H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523648	NM_001186.4(BACH1):c.323A>C (p.Lys108Thr)	BACH1 (K108T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132787	NM_001186.4(BACH1):c.468A>C (p.Lys156Asn)	BACH1 (K156N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132788	NM_001186.4(BACH1):c.488G>A (p.Arg163Lys)	BACH1 (R163K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2348595	NM_001186.4(BACH1):c.569A>G (p.Gln190Arg)	BACH1 (Q190R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510392	NM_001186.4(BACH1):c.601G>T (p.Asp201Tyr)	BACH1 (D201Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370994	NM_001186.4(BACH1):c.613C>G (p.Gln205Glu)	BACH1 (Q205E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378096	NM_001186.4(BACH1):c.629T>C (p.Met210Thr)	BACH1 (M210T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040143	NM_001186.4(BACH1):c.808T>G (p.Cys270Gly)	BACH1 (C270G)	Single nucleotide variant (missense variant +1 more)	BACH1-related disorder	GLikely benign
Select item 3046654	NM_001186.4(BACH1):c.840C>T (p.Asp280=)	BACH1	Single nucleotide variant (synonymous variant +1 more)	BACH1-related disorder	GLikely benign
Select item 2264791	NM_001186.4(BACH1):c.853G>A (p.Ala285Thr)	BACH1 (A285T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294996	NM_001186.4(BACH1):c.856A>G (p.Met286Val)	BACH1 (M286V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132789	NM_001186.4(BACH1):c.881A>T (p.Asp294Val)	BACH1 (D294V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132790	NM_001186.4(BACH1):c.901A>G (p.Thr301Ala)	BACH1 (T301A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055804	NM_001186.4(BACH1):c.940T>C (p.Ser314Pro)	BACH1 (S314P)	Single nucleotide variant (missense variant +1 more)	BACH1-related disorder	GBenign
Select item 2517283	NM_001186.4(BACH1):c.943A>G (p.Ile315Val)	BACH1 (I315V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347679	NM_001186.4(BACH1):c.992A>G (p.Gln331Arg)	BACH1 (Q331R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523001	NM_001186.4(BACH1):c.1021C>G (p.Gln341Glu)	BACH1 (Q341E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040617	NM_001186.4(BACH1):c.1087G>C (p.Glu363Gln)	BACH1 (E363Q)	Single nucleotide variant (missense variant +1 more)	BACH1-related disorder	GUncertain significance
Select item 2463495	NM_001186.4(BACH1):c.1115A>C (p.Asp372Ala)	BACH1 (D372A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280334	NM_001186.4(BACH1):c.1198G>A (p.Gly400Ser)	BACH1 (G400S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477566	NM_001186.4(BACH1):c.1244A>G (p.Gln415Arg)	BACH1 (Q415R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546990	NM_001186.4(BACH1):c.1274C>T (p.Ser425Leu)	BACH1 (S425L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371036	NM_001186.4(BACH1):c.1281G>T (p.Gln427His)	BACH1 (Q427H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365854	NM_001186.4(BACH1):c.1294C>T (p.Arg432Trp)	BACH1 (R432W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324114	NM_001186.4(BACH1):c.1295G>A (p.Arg432Gln)	BACH1 (R432Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595658	NM_001186.4(BACH1):c.1318A>G (p.Ile440Val)	BACH1 (I440V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475886	NM_001186.4(BACH1):c.1341A>C (p.Glu447Asp)	BACH1 (E447D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132782	NM_001186.4(BACH1):c.1415G>A (p.Cys472Tyr)	BACH1 (C472Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034851	NM_001186.4(BACH1):c.1492A>T (p.Ile498Phe)	BACH1 (I498F)	Single nucleotide variant (missense variant +1 more)	BACH1-related disorder	GBenign
Select item 2461765	NM_001186.4(BACH1):c.1534A>T (p.Ser512Cys)	BACH1 (S512C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556712	NM_001186.4(BACH1):c.1577T>C (p.Leu526Pro)	BACH1 (L526P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132783	NM_001186.4(BACH1):c.1609T>C (p.Ser537Pro)	BACH1 (S537P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289526	NM_001186.4(BACH1):c.1692A>T (p.Arg564Ser)	BACH1 (R564S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511772	NM_001186.4(BACH1):c.1723C>T (p.Arg575Cys)	BACH1 (R575C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 632583	NM_001186.4(BACH1):c.1724G>A (p.Arg575His)	BACH1 (R575H)	Single nucleotide variant (missense variant +1 more)	Cerebellar vermis hypoplasia	GUncertain significance

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Items: 43