"Ambry Genetics"[submitter] AND "CCDC13-AS1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2264152	NM_144719.4(CCDC13):c.1556C>T (p.Thr519Met)	CCDC13, CCDC13-AS1 (T519M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596420	NM_144719.4(CCDC13):c.1412G>A (p.Arg471His)	CCDC13, CCDC13-AS1 (R471H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364343	NM_144719.4(CCDC13):c.1409G>T (p.Gly470Val)	CCDC13, CCDC13-AS1 (G470V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331778	NM_144719.4(CCDC13):c.1405A>G (p.Ser469Gly)	CCDC13, CCDC13-AS1 (S469G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521384	NM_144719.4(CCDC13):c.1378C>T (p.Arg460Trp)	CCDC13, CCDC13-AS1 (R460W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332055	NM_144719.4(CCDC13):c.1159C>G (p.Leu387Val)	CCDC13-AS1, CCDC13 (L387V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456814	NM_144719.4(CCDC13):c.1069A>C (p.Lys357Gln)	CCDC13, CCDC13-AS1 (K357Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529659	NM_144719.4(CCDC13):c.1003C>T (p.Arg335Trp)	CCDC13, CCDC13-AS1 (R335W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374733	NM_144719.4(CCDC13):c.968A>G (p.Glu323Gly)	CCDC13, CCDC13-AS1 (E323G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance