ClinVar for MedGen (Select 324588) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1283915	NM_005689.4(ABCB6):c.1511T>C (p.Val504Ala)	ABCB6 (V458A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 783355	NM_005689.4(ABCB6):c.688-9C>T	ABCB6	Single nucleotide variant (intron variant)	Familial pseudohyperkalemia +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)	not provided +5 more	GBenign/Likely benign
Select item 218181	NM_005689.4(ABCB6):c.2168G>A (p.Arg723Gln)	ABCB6 (R723Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 218180	NM_005689.4(ABCB6):c.1123C>T (p.Arg375Trp)	ABCB6 (R375W +1 more)	Single nucleotide variant (missense variant)	Langereis blood group +3 more	GLikely pathogenic
Select item 218179	NM_005689.4(ABCB6):c.1124G>A (p.Arg375Gln)	ABCB6 (R375Q +1 more)	Single nucleotide variant (missense variant)	Familial pseudohyperkalemia	GPathogenic

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