ClinVar for MedGen (Select 335078) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248639	NM_001271696.3(ABCB7):c.2021A>G (p.Asp674Gly)	ABCB7 (D634G +3 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia with ataxia	GPathogenic
Select item 3235083	NM_001271696.3(ABCB7):c.1231G>T (p.Val411Leu)	ABCB7 (V371L +4 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia with ataxia	GLikely pathogenic
Select item 2582478	NM_001271696.3(ABCB7):c.358A>G (p.Ile120Val)	ABCB7 (I120V +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked sideroblastic anemia with ataxia	GUncertain significance
Select item 2438737	NM_001271696.3(ABCB7):c.1106A>G (p.Lys369Arg)	ABCB7 (K329R +4 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia with ataxia	GUncertain significance
Select item 1333913	NM_001271696.3(ABCB7):c.2066C>T (p.Thr689Ile)	ABCB7 (T649I +4 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia with ataxia	GUncertain significance
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 976048	NM_001271696.3(ABCB7):c.944+3A>G	ABCB7	Single nucleotide variant (intron variant)	X-linked sideroblastic anemia with ataxia	GUncertain significance
Select item 914588	NM_001271696.3(ABCB7):c.1200T>C (p.Ile400=)	ABCB7	Single nucleotide variant (synonymous variant)	X-linked sideroblastic anemia with ataxia	GUncertain significance
Select item 914587	NM_001271696.3(ABCB7):c.1230A>G (p.Leu410=)	ABCB7	Single nucleotide variant (synonymous variant)	X-linked sideroblastic anemia with ataxia	GUncertain significance
Select item 914076	NM_001271696.3(ABCB7):c.1802A>G (p.Gln601Arg)	ABCB7 (Q562R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914075	NM_001271696.3(ABCB7):c.2073T>C (p.His691=)	ABCB7	Single nucleotide variant (synonymous variant)	X-linked sideroblastic anemia with ataxia	GUncertain significance
Select item 914074	NM_001271696.3(ABCB7):c.*113A>G	ABCB7	Single nucleotide variant (3 prime UTR variant)	X-linked sideroblastic anemia with ataxia	GUncertain significance
Select item 913727	NM_001271696.3(ABCB7):c.211A>G (p.Lys71Glu)	ABCB7 (K72E +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked sideroblastic anemia with ataxia	GBenign
Select item 814010	NM_001271696.3(ABCB7):c.1936-3C>G	ABCB7	Single nucleotide variant (intron variant)	X-linked sideroblastic anemia with ataxia	GUncertain significance
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 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 368659	NM_001271696.3(ABCB7):c.168+13T>C	ABCB7, LOC130068449	Single nucleotide variant (intron variant)	X-linked sideroblastic anemia with ataxia +1 more	GConflicting classifications of pathogenicity
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 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 368655	NM_001271696.3(ABCB7):c.1935+5G>C	ABCB7	Single nucleotide variant (intron variant)	X-linked sideroblastic anemia with ataxia +1 more	GUncertain significance
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 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 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 126455	NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp)	ABCB7 (E209D +4 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia with ataxia	GPathogenic
Select item 11576	NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu)	ABCB7 (V411L +4 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia with ataxia	GPathogenic
Select item 11575	NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys)	ABCB7 (E433K +4 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia with ataxia	GPathogenic
Select item 11574	NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met)	ABCB7 (I400M +3 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 28