"PreventionGenetics, part of Exact Sciences"[submitter] AND "ABCB7"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2629392	NM_001271696.3(ABCB7):c.2132G>A (p.Arg711His)	ABCB7 (R671H +4 more)	Single nucleotide variant (missense variant)	ABCB7-related disorder	GUncertain significance
Select item 517092	NM_001271696.3(ABCB7):c.1764T>C (p.His588=)	ABCB7	Single nucleotide variant (synonymous variant)	ABCB7-related disorder +1 more	GBenign/Likely benign
Select item 213976	NM_001271696.3(ABCB7):c.1174A>G (p.Ile392Val)	ABCB7 (I393V +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 711144	NM_001271696.3(ABCB7):c.1086G>A (p.Thr362=)	ABCB7	Single nucleotide variant (synonymous variant)	ABCB7-related disorder +1 more	GBenign/Likely benign
Select item 136244	NM_001271696.3(ABCB7):c.945-7C>T	ABCB7	Single nucleotide variant (intron variant)	ABCB7-related disorder +4 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 specified +3 more	GBenign/Likely benign
Select item 2630358	NM_001271696.3(ABCB7):c.814C>T (p.Leu272Phe)	ABCB7 (L232F +4 more)	Single nucleotide variant (missense variant)	ABCB7-related disorder	GUncertain significance
Select item 213973	NM_001271696.3(ABCB7):c.246+1G>A	ABCB7	Single nucleotide variant (intron variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 213987	NM_001271696.3(ABCB7):c.121T>C (p.Trp41Arg)	ABCB7, LOC130068449 (W41R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 2660944	NM_001271696.3(ABCB7):c.39C>A (p.Ala13=)	ABCB7, LOC130068449	Single nucleotide variant (synonymous variant)	ABCB7-related disorder +1 more	GLikely benign
Select item 716723	NM_001271696.3(ABCB7):c.5C>T (p.Ala2Val)	LOC130068449, ABCB7 (A2V)	Single nucleotide variant (missense variant)	ABCB7-related disorder +2 more	GConflicting classifications of pathogenicity