"Ambry Genetics"[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)	CDKN2A, LOC130001603	Microsatellite (inframe_deletion +2 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 233536	NM_000077.5(CDKN2A):c.13G>A (p.Ala5Thr)	CDKN2A, LOC130001603 (A5T)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +2 more	GUncertain significance
Select item 1058585	NM_000077.5(CDKN2A):c.11C>T (p.Ala4Val)	CDKN2A, LOC130001603 (A4V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +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)	Familial melanoma +2 more	GLikely benign
Select item 2449773	NM_000077.5(CDKN2A):c.-17_7dup (p.Glu2_Pro3insArgAlaAlaGlySerSerMetGlu)	CDKN2A, LOC130001603	Duplication (inframe_insertion +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1756617	NM_000077.5(CDKN2A):c.6G>C (p.Glu2Asp)	CDKN2A, LOC130001603 (E2D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 483322	NM_000077.5(CDKN2A):c.6G>A (p.Glu2=)	CDKN2A, LOC130001603	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)	Familial melanoma +1 more	GUncertain significance
Select item 487018	NM_000077.5(CDKN2A):c.2T>A (p.Met1Lys)	LOC130001603, CDKN2A (M1K)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GUncertain significance
Select item 483341	NM_000077.5(CDKN2A):c.2T>C (p.Met1Thr)	CDKN2A, LOC130001603 (M1T)	Single nucleotide variant (missense variant +2 more)	Familial melanoma +1 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 2625893	NM_000077.5(CDKN2A):c.-1C>T	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 141245	NM_000077.5(CDKN2A):c.-2G>A	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	Familial melanoma +6 more	GBenign/Likely benign
Select item 2563915	NM_000077.5(CDKN2A):c.-4C>T	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)	Familial melanoma +4 more	GConflicting classifications of pathogenicity
Select item 1200181	NM_000077.5(CDKN2A):c.-21C>T	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +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)	Familial melanoma +4 more	GBenign/Likely benign
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 245907	NM_058195.4(CDKN2A):c.194-3653G>C	CDKN2A, LOC130001603	Single nucleotide variant (intron variant)	CDKN2A-related condition +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)	Melanoma-pancreatic cancer syndrome +7 more	GPathogenic

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Items: 21