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

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Items: 21

	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 419581	NM_000077.5(CDKN2A):c.8CGG[1] (p.Ala4_Ala5del)	CDKN2A, LOC130001603	Microsatellite (inframe_deletion +1 more)	Familial melanoma +1 more	GUncertain significance
Select item 233536	NM_000077.5(CDKN2A):c.13G>A (p.Ala5Thr)	LOC130001603, CDKN2A (A5T)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +2 more	GUncertain significance
Select item 389468	NM_000077.5(CDKN2A):c.9G>A (p.Pro3=)	CDKN2A, LOC130001603	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma +2 more	GLikely benign
Select item 483322	NM_000077.5(CDKN2A):c.6G>A (p.Glu2=)	LOC130001603, CDKN2A	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 487018	NM_000077.5(CDKN2A):c.2T>A (p.Met1Lys)	CDKN2A, LOC130001603 (M1K)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 820481	NM_000077.5(CDKN2A):c.1A>G (p.Met1Val)	CDKN2A, LOC130001603 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
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 2575599	NM_000077.5(CDKN2A):c.-3A>C	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 630615	NM_058195.4(CDKN2A):c.194-3646_194-3624del	CDKN2A, LOC130001603	Deletion (intron variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 628116	NM_000077.5(CDKN2A):c.-17G>T	LOC130001603, CDKN2A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1200181	NM_000077.5(CDKN2A):c.-21C>T	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	Familial melanoma +2 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 419789	NM_000077.5(CDKN2A):c.-30G>A	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 182415	NM_058195.4(CDKN2A):c.194-3650G>A	CDKN2A, LOC130001603	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided +2 more	GLikely benign
Select item 418119	NM_058195.4(CDKN2A):c.194-3651G>A	CDKN2A, LOC130001603	Single nucleotide variant (intron variant)	not specified	GLikely 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 379882	NM_058195.4(CDKN2A):c.194-3653G>A	CDKN2A, LOC130001603	Single nucleotide variant (intron variant)	Familial melanoma +3 more	GConflicting classifications of pathogenicity
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

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Items: 21