"PreventionGenetics, part of Exact Sciences"[submitter] AND "ABCB6"[ge - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2631605	NM_005689.4(ABCB6):c.2395G>A (p.Asp799Asn)	ABCB6 (D753N +1 more)	Single nucleotide variant (missense variant)	ABCB6-related disorder +1 more	GUncertain significance
Select item 1554361	NM_005689.4(ABCB6):c.2373T>C (p.Ala791=)	ABCB6	Single nucleotide variant (synonymous variant)	ABCB6-related disorder +1 more	GLikely benign
Select item 2637002	NM_005689.4(ABCB6):c.2313A>C (p.Lys771Asn)	ABCB6 (K725N +1 more)	Single nucleotide variant (missense variant)	ABCB6-related disorder	GUncertain significance
Select item 993667	NM_005689.4(ABCB6):c.2215C>T (p.Arg739Cys)	ABCB6 (R693C +1 more)	Single nucleotide variant (missense variant)	ABCB6-related disorder +1 more	GUncertain significance
Select item 3045188	NM_005689.4(ABCB6):c.2196G>A (p.Lys732=)	ABCB6	Single nucleotide variant (synonymous variant)	ABCB6-related disorder	GLikely benign
Select item 2635838	NM_005689.4(ABCB6):c.1751G>A (p.Arg584His)	ABCB6 (R538H +1 more)	Single nucleotide variant (missense variant)	ABCB6-related disorder	GUncertain significance
Select item 2629864	NM_005689.4(ABCB6):c.1619T>G (p.Leu540Arg)	ABCB6 (L494R +1 more)	Single nucleotide variant (missense variant)	ABCB6-related disorder	GUncertain significance
Select item 1301996	NM_005689.4(ABCB6):c.1474G>A (p.Ala492Thr)	ABCB6 (A446T +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 771341	NM_005689.4(ABCB6):c.1361T>C (p.Val454Ala)	ABCB6 (V408A +1 more)	Single nucleotide variant (missense variant)	Familial pseudohyperkalemia +5 more	GBenign/Likely benign
Select item 746282	NM_005689.4(ABCB6):c.1273C>G (p.Leu425Val)	ABCB6 (L379V +1 more)	Single nucleotide variant (missense variant)	ABCB6-related disorder +1 more	GLikely benign
Select item 1227694	NM_005689.4(ABCB6):c.1028G>A (p.Arg343Gln)	ABCB6 (R297Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 783355	NM_005689.4(ABCB6):c.688-9C>T	ABCB6	Single nucleotide variant (intron variant)	ABCB6-related disorder +5 more	GBenign/Likely benign
Select item 2629234	NM_005689.4(ABCB6):c.650A>G (p.Gln217Arg)	ABCB6 (Q217R)	Single nucleotide variant (missense variant +1 more)	ABCB6-related disorder	GUncertain significance
Select item 68473	NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln)	ABCB6 (R192Q)	Single nucleotide variant (missense variant +1 more)	Protoporphyria, erythropoietic, 1 +4 more	GBenign/Likely benign
Select item 2862558	NM_005689.4(ABCB6):c.376del (p.Val126fs)	ABCB6 (V126fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity