"Color Diagnostics, LLC DBA Color Health"[submitter] AND "LOC130001603 - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 216277	NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del)	CDKN2A, LOC130001603	Microsatellite (inframe_deletion +2 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1058585	NM_000077.5(CDKN2A):c.11C>T (p.Ala4Val)	CDKN2A, LOC130001603 (A4V)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +1 more	GUncertain significance
Select item 628437	NM_000077.5(CDKN2A):c.11C>G (p.Ala4Gly)	CDKN2A, LOC130001603 (A4G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 389468	NM_000077.5(CDKN2A):c.9G>A (p.Pro3=)	CDKN2A, LOC130001603	Single nucleotide variant (synonymous variant +1 more)	not provided +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)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 406722	NM_000077.5(CDKN2A):c.4G>C (p.Glu2Gln)	CDKN2A, LOC130001603 (E2Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 660169	NM_000077.5(CDKN2A):c.2T>G (p.Met1Arg)	CDKN2A, LOC130001603 (M1R)	Single nucleotide variant (missense variant +2 more)	Familial melanoma +1 more	GUncertain significance
Select item 487018	NM_000077.5(CDKN2A):c.2T>A (p.Met1Lys)	CDKN2A, LOC130001603 (M1K)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 141245	NM_000077.5(CDKN2A):c.-2G>A	LOC130001603, CDKN2A	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 630615	NM_058195.4(CDKN2A):c.194-3646_194-3624del	CDKN2A, LOC130001603	Deletion (genic upstream transcript variant +1 more)	Melanoma and neural system tumor syndrome +1 more	GUncertain significance
Select item 628521	NM_000077.5(CDKN2A):c.-8G>A	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 628027	NM_000077.5(CDKN2A):c.-10G>T	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 627726	NM_000077.5(CDKN2A):c.-10G>A	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 491562	NM_000077.5(CDKN2A):c.-10G>C	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 918804	NM_000077.5(CDKN2A):c.-11C>G	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2775058	NM_000077.5(CDKN2A):c.-12G>A	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2775059	NM_000077.5(CDKN2A):c.-14C>A	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 221032	NM_000077.5(CDKN2A):c.-14C>T	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	CDKN2A-related disorder +4 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)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 927340	NM_000077.5(CDKN2A):c.-20A>G	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1332505	NM_058195.4(CDKN2A):c.194-3654_194-3641del	CDKN2A, LOC130001603	Deletion (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1692140	NM_058195.4(CDKN2A):c.194-3652G>T	CDKN2A, LOC130001603	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 548857	NM_058195.4(CDKN2A):c.194-3652G>C	CDKN2A, LOC130001603	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 379882	NM_058195.4(CDKN2A):c.194-3653G>A	CDKN2A, LOC130001603	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 245907	NM_058195.4(CDKN2A):c.194-3653G>C	CDKN2A, LOC130001603	Single nucleotide variant (intron variant)	CDKN2A-related disorder +5 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)	Neoplasm of ovary +7 more	GPathogenic

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Items: 26