"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 666802	NM_003672.4(CDC14A):c.28G>C (p.Gly10Arg)	CDC14A (G10R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1120113	NM_003672.4(CDC14A):c.31G>A (p.Ala11Thr)	CDC14A (A11T)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 517571	NM_003672.4(CDC14A):c.192C>T (p.Cys64=)	CDC14A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 506035	NM_003672.4(CDC14A):c.309A>C (p.Ala103=)	CDC14A	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 666801	NM_003672.4(CDC14A):c.374C>G (p.Pro125Arg)	CDC14A (P67R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 930064	NM_003672.4(CDC14A):c.394G>T (p.Ala132Ser)	CDC14A (A74S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 667084	NM_003672.4(CDC14A):c.457-6T>C	CDC14A	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 32 +2 more	GLikely benign
Select item 667367	NM_003672.4(CDC14A):c.520C>T (p.Arg174Ter)	CDC14A (R116* +1 more)	Single nucleotide variant (nonsense +1 more)	Rare genetic deafness	GLikely pathogenic
Select item 506036	NM_003672.4(CDC14A):c.608-10G>A	CDC14A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 508571	NM_003672.4(CDC14A):c.819C>G (p.Ala273=)	CDC14A	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 929950	NM_003672.4(CDC14A):c.822C>T (p.Ile274=)	CDC14A	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 517533	NM_003672.4(CDC14A):c.825C>T (p.Ala275=)	CDC14A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 517534	NM_003672.4(CDC14A):c.903T>C (p.His301=)	CDC14A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 508568	NM_003672.4(CDC14A):c.990G>A (p.Ser330=)	CDC14A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 667085	NM_003672.4(CDC14A):c.1371G>A (p.Thr457=)	CDC14A	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 509180	NM_003672.4(CDC14A):c.1604A>G (p.Gln535Arg)	CDC14A (Q535R +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 517535	NM_003672.4(CDC14A):c.1647C>T (p.Ser549=)	CDC14A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 513655	NM_003672.4(CDC14A):c.1711G>A (p.Gly571Arg)	CDC14A (G571R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3075841	NM_003672.4(CDC14A):c.1724del (p.Ser575fs)	CDC14A (S282fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 517536	NM_003672.4(CDC14A):c.1755+8C>T	CDC14A (A588V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 930065	NM_003672.4(CDC14A):c.1755+20C>T	CDC14A (P299L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 667038	NM_003672.4(CDC14A):c.1755+110C>G	CDC14A (A564G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign

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Items: 22