C0022350[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2438738	NM_000392.5(ABCC2):c.415T>C (p.Ser139Pro)	ABCC2 (S139P)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 1322253	NM_000392.5(ABCC2):c.576+1G>A	ABCC2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2690804	NM_000392.5(ABCC2):c.656G>A (p.Arg219His)	ABCC2 (R219H)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 1322269	NM_000392.5(ABCC2):c.1882C>T (p.Arg628Ter)	ABCC2 (R628*)	Single nucleotide variant (nonsense)	Dubin-Johnson syndrome +1 more	GPathogenic
Select item 426249	NM_000392.5(ABCC2):c.3337del (p.Val1114fs)	ABCC2, LOC126861013 (V1114fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1323815	NM_000392.5(ABCC2):c.3403del (p.Val1135fs)	ABCC2, LOC126861013 (V1135fs)	Deletion (frameshift variant)	not specified +1 more	GPathogenic/Likely pathogenic
Select item 8419	NM_000392.5(ABCC2):c.3449G>A (p.Arg1150His)	ABCC2 (R1150H)	Single nucleotide variant (missense variant)	ABCC2-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 595090	NM_000392.5(ABCC2):c.3741+1G>T	ABCC2	Single nucleotide variant (splice donor variant)	Dubin-Johnson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 208557	NM_000392.5(ABCC2):c.3741+1G>A	ABCC2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2690803	NM_000392.5(ABCC2):c.4025C>A (p.Ser1342Tyr)	ABCC2 (S1342Y)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance