"GeneDx"[submitter] AND "ABCB7"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	ABCB7, AMER1 +263 more	Copy number gain	See cases	GPathogenic
Select item 58641	GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2	ABCB7, ARR3 +161 more	Copy number gain	See cases	GPathogenic
Select item 58643	GRCh38/hg38 Xq13.3(chrX:75012979-75197052)x2	ABCB7, LOC130068449 +1 more	Copy number gain	See cases	GPathogenic
Select item 1218538	NM_001271696.3(ABCB7):c.2044-24G>A	ABCB7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189848	NM_001271696.3(ABCB7):c.2044-34C>T	ABCB7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208344	NM_001271696.3(ABCB7):c.2044-269C>G	ABCB7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257995	NM_001271696.3(ABCB7):c.2043+214A>G	ABCB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292863	NM_001271696.3(ABCB7):c.2043+204_2043+206del	ABCB7	Microsatellite (intron variant)	not provided	GBenign
Select item 136247	NM_001271696.3(ABCB7):c.2043+17T>A	ABCB7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 386506	NM_001271696.3(ABCB7):c.1950C>G (p.Ala650=)	ABCB7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1194193	NM_001271696.3(ABCB7):c.1936-76G>C	ABCB7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671642	NM_001271696.3(ABCB7):c.1936-118dup	ABCB7	Duplication (intron variant)	not provided	GBenign
Select item 1295654	NM_001271696.3(ABCB7):c.1936-220G>A	ABCB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226856	NM_001271696.3(ABCB7):c.1935+245A>T	ABCB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3363962	NM_001271696.3(ABCB7):c.1882C>G (p.Pro628Ala)	ABCB7 (P588A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 213984	NM_001271696.3(ABCB7):c.1832-11T>C	ABCB7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1192768	NM_001271696.3(ABCB7):c.1832-250A>G	ABCB7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197707	NM_001271696.3(ABCB7):c.1832-266T>A	ABCB7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292862	NM_001271696.3(ABCB7):c.1831+199dup	ABCB7	Duplication (intron variant)	not provided	GBenign
Select item 1245129	NM_001271696.3(ABCB7):c.1831+199_1831+200dup	ABCB7	Duplication (intron variant)	not provided	GBenign
Select item 678942	NM_001271696.3(ABCB7):c.1831+52dup	ABCB7	Duplication (intron variant)	not provided	GLikely benign
Select item 1259564	NM_001271696.3(ABCB7):c.1831+24C>T	ABCB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 517092	NM_001271696.3(ABCB7):c.1764T>C (p.His588=)	ABCB7	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 136246	NM_001271696.3(ABCB7):c.1740A>G (p.Ala580=)	ABCB7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 136245	NM_001271696.3(ABCB7):c.1739C>T (p.Ala580Val)	ABCB7 (A581V +4 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia with ataxia +3 more	GBenign
Select item 3364573	NM_001271696.3(ABCB7):c.1736A>G (p.Tyr579Cys)	ABCB7 (Y539C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1291413	NM_001271696.3(ABCB7):c.1660-51GA[2]	ABCB7	Microsatellite (intron variant)	not provided	GBenign
Select item 1234148	NM_001271696.3(ABCB7):c.1660-313T>C	ABCB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272612	NM_001271696.3(ABCB7):c.1659+328A>G	ABCB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 391423	NM_001271696.3(ABCB7):c.1637G>A (p.Arg546Lys)	ABCB7 (R547K +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 213983	NM_001271696.3(ABCB7):c.1589A>G (p.Tyr530Cys)	ABCB7 (Y531C +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 368656	NM_001271696.3(ABCB7):c.1492G>A (p.Gly498Arg)	ABCB7 (G499R +4 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia with ataxia +1 more	GBenign
Select item 213977	NM_001271696.3(ABCB7):c.1486C>T (p.Pro496Ser)	ABCB7 (P497S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 213982	NM_001271696.3(ABCB7):c.1480G>C (p.Glu494Gln)	ABCB7 (E495Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418634	NM_001271696.3(ABCB7):c.1366-23dup	ABCB7	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1683841	NM_001271696.3(ABCB7):c.1366-37G>A	ABCB7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290431	NM_001271696.3(ABCB7):c.1366-55G>A	ABCB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186614	NM_001271696.3(ABCB7):c.1366-114T>C	ABCB7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3363205	NM_001271696.3(ABCB7):c.1365+3A>G	ABCB7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 368657	NM_001271696.3(ABCB7):c.1320T>C (p.Asp440=)	ABCB7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 372878	NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr)	ABCB7 (M413T +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 506643	NM_001271696.3(ABCB7):c.1203G>A (p.Val401=)	ABCB7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 11574	NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met)	ABCB7 (I400M +3 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 213976	NM_001271696.3(ABCB7):c.1174A>G (p.Ile392Val)	ABCB7 (I393V +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 450083	NM_001271696.3(ABCB7):c.1162G>A (p.Gly388Ser)	ABCB7 (G389S +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1334855	NM_001271696.3(ABCB7):c.1132A>G (p.Asn378Asp)	ABCB7 (N338D +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1186354	NM_001271696.3(ABCB7):c.1033-209C>G	ABCB7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 368658	NM_001271696.3(ABCB7):c.1032+12A>G	ABCB7	Single nucleotide variant (intron variant)	X-linked sideroblastic anemia with ataxia +3 more	GBenign/Likely benign
Select item 1307223	NM_001271696.3(ABCB7):c.1032+4A>T	ABCB7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1197079	NM_001271696.3(ABCB7):c.958A>G (p.Ile320Val)	ABCB7 (I280V +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 136244	NM_001271696.3(ABCB7):c.945-7C>T	ABCB7	Single nucleotide variant (intron variant)	Sideroblastic Anemia and Ataxia +3 more	GBenign/Likely benign
Select item 136243	NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln)	ABCB7 (R314Q +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 213988	NM_001271696.3(ABCB7):c.868G>A (p.Gly290Ser)	ABCB7 (G291S +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1189900	NM_001271696.3(ABCB7):c.856-37A>G	ABCB7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1312738	NM_001271696.3(ABCB7):c.710A>G (p.Asp237Gly)	ABCB7 (D197G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 677918	NM_001271696.3(ABCB7):c.587-180G>A	ABCB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235288	NM_001271696.3(ABCB7):c.586+258C>G	ABCB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212323	NM_001271696.3(ABCB7):c.453+321A>G	ABCB7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2504753	NM_001271696.3(ABCB7):c.436T>G (p.Phe146Val)	ABCB7 (F120V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365086	NM_001271696.3(ABCB7):c.395A>G (p.Asp132Gly)	ABCB7 (D106G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1710703	NM_001271696.3(ABCB7):c.383T>C (p.Val128Ala)	ABCB7 (V102A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 384271	NM_001271696.3(ABCB7):c.361A>G (p.Ile121Val)	ABCB7 (I122V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 417996	NM_001271696.3(ABCB7):c.334-7del	ABCB7	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 1209161	NM_001271696.3(ABCB7):c.334-43dup	ABCB7	Duplication (intron variant)	not provided	GLikely benign
Select item 1294146	NM_001271696.3(ABCB7):c.334-48G>A	ABCB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199559	NM_001271696.3(ABCB7):c.333+156T>C	ABCB7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183541	NM_001271696.3(ABCB7):c.333+138_333+142del	ABCB7	Deletion (intron variant)	not provided	GLikely benign
Select item 1249451	NM_001271696.3(ABCB7):c.333+126dup	ABCB7	Duplication (intron variant)	not provided	GBenign
Select item 136242	NM_001271696.3(ABCB7):c.312C>T (p.Leu104=)	ABCB7	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 213979	NM_001271696.3(ABCB7):c.289C>T (p.His97Tyr)	ABCB7 (H98Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1222908	NM_001271696.3(ABCB7):c.246+173T>A	ABCB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206663	NM_001271696.3(ABCB7):c.246+67A>G	ABCB7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 213973	NM_001271696.3(ABCB7):c.246+1G>A	ABCB7	Single nucleotide variant (intron variant +1 more)	Sideroblastic Anemia and Ataxia +2 more	GConflicting classifications of pathogenicity
Select item 514604	NM_001271696.3(ABCB7):c.241G>A (p.Ala81Thr)	ABCB7 (A82T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 559334	NM_001271696.3(ABCB7):c.201G>C (p.Gln67His)	ABCB7 (Q68H +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked sideroblastic anemia with ataxia +1 more	GBenign
Select item 213986	NM_001271696.3(ABCB7):c.169-2A>T	ABCB7 (Q57L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1239459	NM_001271696.3(ABCB7):c.169-21A>G	ABCB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258220	NM_001271696.3(ABCB7):c.169-117_169-115del	ABCB7	Microsatellite (intron variant)	not provided	GBenign
Select item 1182929	NM_001271696.3(ABCB7):c.169-227A>T	ABCB7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220181	NM_001271696.3(ABCB7):c.168+220C>A	ABCB7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188878	NM_001271696.3(ABCB7):c.168+69C>G	ABCB7, LOC130068449	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 213987	NM_001271696.3(ABCB7):c.121T>C (p.Trp41Arg)	LOC130068449, ABCB7 (W41R)	Single nucleotide variant (missense variant)	Sideroblastic Anemia and Ataxia +2 more	GBenign/Likely benign
Select item 385410	NM_001271696.3(ABCB7):c.111A>T (p.Ser37=)	ABCB7, LOC130068449	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 384253	NM_001271696.3(ABCB7):c.102T>C (p.Val34=)	ABCB7, LOC130068449	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1311902	NM_001271696.3(ABCB7):c.85C>T (p.Arg29Trp)	ABCB7, LOC130068449 (R29W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1229803	NC_000023.11:g.75156361G>C	ABCB7, LOC130068449	Single nucleotide variant	not provided	GBenign
Select item 1260246	NC_000023.11:g.75156585C>T	ABCB7, UPRT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic

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