Related gene-specific medical variations for Gene (Select 4363) - ClinVar

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Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063457	GRCh37/hg19 16p13.11(chr16:16222353-16239174)x1	ABCC1	Copy number loss	not specified	GUncertain significance
Select item 158103	NM_004996.4(ABCC1):c.4551G>A (p.Gln1517=)	ABCC1	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 158102	NM_004996.4(ABCC1):c.352-79G>A	ABCC1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 158101	NM_004996.4(ABCC1):c.855G>A (p.Pro285=)	ABCC1	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 151639	GRCh38/hg38 16p13.11(chr16:15937798-15954802)x3	ABCC1	Copy number gain	See cases	GLikely benign
Select item 120320	NM_004996.4(ABCC1):c.809+16C>T	ABCC1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 120319	NM_004996.4(ABCC1):c.1678-34G>A	ABCC1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 120318	NM_004996.4(ABCC1):c.3139T>G (p.Cys1047Gly)	ABCC1 (C1047G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 120317	NM_004996.4(ABCC1):c.3391-99G>A	ABCC1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 120316	NM_004996.4(ABCC1):c.596C>T (p.Ser199Leu)	ABCC1 (S199L)	Single nucleotide variant (missense variant)	not provided	Gnot provided