CCDC185[gene] and "single gene"[properties] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2408911	NM_152610.3(CCDC185):c.67G>A (p.Gly23Arg)	CCDC185 (G23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554284	NM_152610.3(CCDC185):c.74G>T (p.Arg25Leu)	CCDC185 (R25L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139006	NM_152610.3(CCDC185):c.92T>C (p.Leu31Pro)	CCDC185 (L31P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290090	NM_152610.3(CCDC185):c.109G>A (p.Gly37Arg)	CCDC185 (G37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322268	NM_152610.3(CCDC185):c.115G>A (p.Asp39Asn)	CCDC185 (D39N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602636	NM_152610.3(CCDC185):c.119C>T (p.Ser40Phe)	CCDC185 (S40F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478568	NM_152610.3(CCDC185):c.134G>A (p.Arg45Gln)	CCDC185 (R45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138995	NM_152610.3(CCDC185):c.139G>C (p.Gly47Arg)	CCDC185 (G47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248393	NM_152610.3(CCDC185):c.146C>A (p.Pro49Gln)	CCDC185 (P49Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600411	NM_152610.3(CCDC185):c.200C>T (p.Thr67Ile)	CCDC185 (T67I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138997	NM_152610.3(CCDC185):c.242G>A (p.Gly81Asp)	CCDC185 (G81D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264141	NM_152610.3(CCDC185):c.274C>G (p.Pro92Ala)	CCDC185 (P92A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138998	NM_152610.3(CCDC185):c.287C>T (p.Ser96Phe)	CCDC185 (S96F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310956	NM_152610.3(CCDC185):c.331G>A (p.Gly111Arg)	CCDC185 (G111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592157	NM_152610.3(CCDC185):c.353G>A (p.Arg118His)	CCDC185 (R118H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138999	NM_152610.3(CCDC185):c.395C>T (p.Pro132Leu)	CCDC185 (P132L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139000	NM_152610.3(CCDC185):c.428G>A (p.Gly143Glu)	CCDC185 (G143E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139001	NM_152610.3(CCDC185):c.475G>T (p.Gly159Cys)	CCDC185 (G159C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264142	NM_152610.3(CCDC185):c.509A>C (p.Asp170Ala)	CCDC185 (D170A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310296	NM_152610.3(CCDC185):c.544C>T (p.Arg182Cys)	CCDC185 (R182C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139002	NM_152610.3(CCDC185):c.545G>A (p.Arg182His)	CCDC185 (R182H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221322	NM_152610.3(CCDC185):c.562G>A (p.Val188Ile)	CCDC185 (V188I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264144	NM_152610.3(CCDC185):c.645C>A (p.Ser215Arg)	CCDC185 (S215R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245061	NM_152610.3(CCDC185):c.773A>G (p.Gln258Arg)	CCDC185 (Q258R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623906	NM_152610.3(CCDC185):c.887T>C (p.Met296Thr)	CCDC185 (M296T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529078	NM_152610.3(CCDC185):c.893T>C (p.Leu298Pro)	CCDC185 (L298P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139004	NM_152610.3(CCDC185):c.907C>T (p.Arg303Trp)	CCDC185 (R303W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346871	NM_152610.3(CCDC185):c.908G>A (p.Arg303Gln)	CCDC185 (R303Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139005	NM_152610.3(CCDC185):c.919C>T (p.Arg307Trp)	CCDC185 (R307W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620533	NM_152610.3(CCDC185):c.937T>C (p.Trp313Arg)	CCDC185 (W313R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310336	NM_152610.3(CCDC185):c.994C>T (p.Arg332Trp)	CCDC185 (R332W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458447	NM_152610.3(CCDC185):c.1013A>T (p.Asn338Ile)	CCDC185 (N338I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598093	NM_152610.3(CCDC185):c.1019C>T (p.Pro340Leu)	CCDC185 (P340L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300225	NM_152610.3(CCDC185):c.1043A>T (p.Glu348Val)	CCDC185 (E348V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138991	NM_152610.3(CCDC185):c.1057C>A (p.Gln353Lys)	CCDC185 (Q353K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245308	NM_152610.3(CCDC185):c.1073A>G (p.Gln358Arg)	CCDC185 (Q358R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138992	NM_152610.3(CCDC185):c.1118A>G (p.Gln373Arg)	CCDC185 (Q373R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138993	NM_152610.3(CCDC185):c.1159C>T (p.Arg387Trp)	CCDC185 (R387W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484409	NM_152610.3(CCDC185):c.1168C>T (p.Arg390Trp)	CCDC185 (R390W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300561	NM_152610.3(CCDC185):c.1237G>A (p.Val413Met)	CCDC185 (V413M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224258	NM_152610.3(CCDC185):c.1247A>G (p.Gln416Arg)	CCDC185 (Q416R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138994	NM_152610.3(CCDC185):c.1270C>A (p.Leu424Met)	CCDC185 (L424M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612946	NM_152610.3(CCDC185):c.1310T>C (p.Met437Thr)	CCDC185 (M437T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485982	NM_152610.3(CCDC185):c.1317C>G (p.Cys439Trp)	CCDC185 (C439W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604414	NM_152610.3(CCDC185):c.1387C>T (p.His463Tyr)	CCDC185 (H463Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274518	NM_152610.3(CCDC185):c.1389C>A (p.His463Gln)	CCDC185 (H463Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509259	NM_152610.3(CCDC185):c.1409G>A (p.Arg470Gln)	CCDC185 (R470Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274832	NM_152610.3(CCDC185):c.1504C>T (p.Arg502Cys)	CCDC185 (R502C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267138	NM_152610.3(CCDC185):c.1536G>C (p.Glu512Asp)	CCDC185 (E512D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467242	NM_152610.3(CCDC185):c.1665G>C (p.Lys555Asn)	CCDC185 (K555N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264140	NM_152610.3(CCDC185):c.1706A>G (p.Glu569Gly)	CCDC185 (E569G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138996	NM_152610.3(CCDC185):c.1760A>G (p.Gln587Arg)	CCDC185 (Q587R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559574	NM_152610.3(CCDC185):c.1813C>T (p.Leu605Phe)	CCDC185 (L605F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2536727	NM_152610.3(CCDC185):c.1833G>T (p.Glu611Asp)	CCDC185 (E611D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264139	NM_152610.3(CCDC185):c.1846G>C (p.Ala616Pro)	CCDC185 (A616P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605360	NM_152610.3(CCDC185):c.1862G>A (p.Arg621Lys)	CCDC185 (R621K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 394951	GRCh37/hg19 1q41(chr1:223557383-223568717)x3	CCDC185	Copy number gain	See cases	GLikely benign

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Items: 57