"Ambry Genetics"[submitter] AND "CCDC178"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2536865	NM_001105528.4(CCDC178):c.2596G>A (p.Asp866Asn)	CCDC178 (D866N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227462	NM_001105528.4(CCDC178):c.2551A>G (p.Ile851Val)	CCDC178 (I851V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332528	NM_001105528.4(CCDC178):c.2342A>G (p.Tyr781Cys)	CCDC178 (Y781C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229849	NM_001105528.4(CCDC178):c.2320A>C (p.Lys774Gln)	CCDC178 (K736Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305539	NM_001105528.4(CCDC178):c.2288A>G (p.Tyr763Cys)	CCDC178 (Y725C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255745	NM_001105528.4(CCDC178):c.2182G>A (p.Asp728Asn)	CCDC178 (D690N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327770	NM_001105528.4(CCDC178):c.2122A>G (p.Thr708Ala)	CCDC178 (T670A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2371356	NM_001105528.4(CCDC178):c.2039A>G (p.Glu680Gly)	CCDC178 (E680G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358432	NM_001105528.4(CCDC178):c.2038G>A (p.Glu680Lys)	CCDC178 (E680K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2474704	NM_001105528.4(CCDC178):c.1942T>C (p.Ser648Pro)	CCDC178 (S610P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518899	NM_001105528.4(CCDC178):c.1939C>T (p.Arg647Cys)	CCDC178 (R609C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610134	NM_001105528.4(CCDC178):c.1934G>A (p.Ser645Asn)	CCDC178 (S607N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558346	NM_001105528.4(CCDC178):c.1878G>T (p.Lys626Asn)	CCDC178 (K626N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589201	NM_001105528.4(CCDC178):c.1870A>G (p.Lys624Glu)	CCDC178 (K624E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321564	NM_001105528.4(CCDC178):c.1789A>G (p.Ile597Val)	CCDC178 (I597V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368942	NM_001105528.4(CCDC178):c.1756C>T (p.Pro586Ser)	CCDC178 (P586S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354874	NM_001105528.4(CCDC178):c.1718G>C (p.Arg573Thr)	CCDC178 (R573T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295618	NM_001105528.4(CCDC178):c.1687G>A (p.Ala563Thr)	CCDC178 (A563T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339390	NM_001105528.4(CCDC178):c.1667A>G (p.Tyr556Cys)	CCDC178 (Y556C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354360	NM_001105528.4(CCDC178):c.1544A>G (p.Lys515Arg)	CCDC178 (K515R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380668	NM_001105528.4(CCDC178):c.1511G>A (p.Arg504His)	CCDC178 (R504H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272114	NM_001105528.4(CCDC178):c.1434A>T (p.Glu478Asp)	CCDC178 (E478D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296083	NM_001105528.4(CCDC178):c.1417A>G (p.Lys473Glu)	CCDC178 (K473E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606850	NM_001105528.4(CCDC178):c.1367T>A (p.Leu456His)	CCDC178 (L456H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412343	NM_001105528.4(CCDC178):c.1349C>T (p.Thr450Met)	CCDC178 (T450M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2368908	NM_001105528.4(CCDC178):c.1324A>G (p.Ile442Val)	CCDC178 (I442V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324402	NM_001105528.4(CCDC178):c.1288A>G (p.Ile430Val)	CCDC178 (I430V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624257	NM_001105528.4(CCDC178):c.1157T>C (p.Leu386Ser)	CCDC178 (L386S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254134	NM_001105528.4(CCDC178):c.1117A>C (p.Thr373Pro)	CCDC178 (T373P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255491	NM_001105528.4(CCDC178):c.1015G>A (p.Ala339Thr)	CCDC178 (A339T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322207	NM_001105528.4(CCDC178):c.1010T>C (p.Ile337Thr)	CCDC178 (I337T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477279	NM_001105528.4(CCDC178):c.662A>T (p.His221Leu)	CCDC178 (H221L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597631	NM_001105528.4(CCDC178):c.652C>A (p.Gln218Lys)	CCDC178 (Q218K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315094	NM_001105528.4(CCDC178):c.646G>A (p.Ala216Thr)	CCDC178 (A216T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466063	NM_001105528.4(CCDC178):c.248G>A (p.Arg83His)	CCDC178 (R83H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539180	NM_001105528.4(CCDC178):c.211G>T (p.Val71Leu)	CCDC178 (V71L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455945	NM_001105528.4(CCDC178):c.119G>A (p.Gly40Asp)	CCDC178 (G40D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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Items: 37