ClinVar for Gene (Select 571) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259884	NM_001186.4(BACH1):c.493C>G (p.Leu165Val)	BACH1 (L165V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259874	NM_001186.4(BACH1):c.433T>A (p.Cys145Ser)	BACH1 (C145S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259864	NM_001186.4(BACH1):c.1994C>T (p.Ala665Val)	BACH1, LOC126653338 (A665V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259853	NM_001186.4(BACH1):c.109A>G (p.Thr37Ala)	BACH1 (T37A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259842	NM_001186.4(BACH1):c.1406C>G (p.Thr469Ser)	BACH1 (T469S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
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 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 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 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 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 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 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 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 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 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 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 3062419	GRCh37/hg19 21q21.3(chr21:30485784-30693664)x1	BACH1, MAP3K7CL	Copy number loss	not specified	GUncertain significance
Select item 3059943	NM_001186.4(BACH1):c.1833T>C (p.Gly611=)	BACH1, LOC126653338	Single nucleotide variant (synonymous variant)	BACH1-related disorder	GBenign
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 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 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 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 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 2684912	GRCh37/hg19 21q21.1-22.11(chr21:20408138-32852758)x3	N6AMT1, NCAM2 +52 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
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 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 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 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 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 2538673	NM_001186.4(BACH1):c.1989A>C (p.Glu663Asp)	BACH1, LOC126653338 (E663D)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 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 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 2472612	NM_001186.4(BACH1):c.1973G>A (p.Ser658Asn)	BACH1, LOC126653338 (S658N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 2406365	NM_001186.4(BACH1):c.2057G>A (p.Gly686Glu)	BACH1, LOC126653338 (G686E)	Single nucleotide variant (missense variant)	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 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 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 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 2352832	NM_001186.4(BACH1):c.2023C>T (p.Arg675Trp)	BACH1, LOC126653338 (R675W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2325894	NM_001186.4(BACH1):c.2142G>C (p.Gln714His)	BACH1, LOC126653338 (Q714H)	Single nucleotide variant (missense variant)	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 2315248	NM_001186.4(BACH1):c.2032G>A (p.Ala678Thr)	BACH1, LOC126653338 (A678T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313422	NM_001186.4(BACH1):c.2080C>G (p.Arg694Gly)	BACH1, LOC126653338 (R694G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311143	NM_001186.4(BACH1):c.2024G>A (p.Arg675Gln)	BACH1, LOC126653338 (R675Q)	Single nucleotide variant (missense variant)	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 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 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 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 1809314	GRCh37/hg19 21q21.3-22.11(chr21:29243314-32472073)x3	LTN1, USP16 +41 more	Copy number gain	not provided	GUncertain significance
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	Down syndrome	GPathogenic
Select item 1526710	GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)	KRTAP20-1, KRTAP20-2 +91 more	Copy number gain	not specified	GPathogenic
Select item 1526709	GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445)	KRTAP20-4, KRTAP21-1 +77 more	Copy number loss	not specified	GUncertain significance
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	ADAMTS1, ADAMTS5 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KCNJ15, N6AMT1 +216 more	Copy number gain	not specified	GPathogenic
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	COL6A2, KRTAP20-3 +220 more	Copy number gain	See cases	GPathogenic
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 816152	GRCh37/hg19 21q21.3-22.11(chr21:27826100-32468109)x1	ADAMTS1, ADAMTS5 +44 more	Copy number loss	not provided	GPathogenic
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ATP5PF, IL10RB +217 more	Copy number gain	not provided	GPathogenic
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
Select item 564659	GRCh37/hg19 21q21.3(chr21:30685776-31326650)x1	BACH1, GRIK1	Copy number loss	not provided	GUncertain significance
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	EVA1C, FAM3B +217 more	Copy number gain	See cases	GPathogenic
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 236547	GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347)	BACH1, BACH1-IT2 +215 more	Copy number loss	Monosomy 21	GPathogenic
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155712	GRCh38/hg38 21q21.3(chr21:26773248-29573178)x1	ADAMTS1, ADAMTS5 +56 more	Copy number loss	See cases	GUncertain significance
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 154063	GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1	LOC130066520, LOC130066521 +213 more	Copy number loss	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 153076	GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1	ATP5PO, BACH1 +75 more	Copy number loss	See cases	GPathogenic
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic

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