"Counsyl"[submitter] AND "LOC130001603"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 216277	NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del)	LOC130001603, CDKN2A	Microsatellite (inframe_deletion +2 more)	Melanoma-pancreatic cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 141245	NM_000077.5(CDKN2A):c.-2G>A	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	Melanoma-pancreatic cancer syndrome +6 more	GBenign/Likely benign
Select item 221032	NM_000077.5(CDKN2A):c.-14C>T	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 127522	NM_000077.5(CDKN2A):c.-25C>T	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 548857	NM_058195.4(CDKN2A):c.194-3652G>C	CDKN2A, LOC130001603	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 245907	NM_058195.4(CDKN2A):c.194-3653G>C	LOC130001603, CDKN2A	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 182414	NM_058195.4(CDKN2A):c.194-3653G>T	CDKN2A, LOC130001603	Single nucleotide variant (genic upstream transcript variant +1 more)	Melanoma and neural system tumor syndrome +7 more	GPathogenic

ClinVar