ClinVar for Gene (Select 164127) - ClinVar

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Links from Gene

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3264142	NM_152610.3(CCDC185):c.509A>C (p.Asp170Ala)	CCDC185 (D170A)	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 3264140	NM_152610.3(CCDC185):c.1706A>G (p.Glu569Gly)	CCDC185 (E569G)	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 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
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 3139005	NM_152610.3(CCDC185):c.919C>T (p.Arg307Trp)	CCDC185 (R307W)	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 3139002	NM_152610.3(CCDC185):c.545G>A (p.Arg182His)	CCDC185 (R182H)	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 3139000	NM_152610.3(CCDC185):c.428G>A (p.Gly143Glu)	CCDC185 (G143E)	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 3138998	NM_152610.3(CCDC185):c.287C>T (p.Ser96Phe)	CCDC185 (S96F)	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 3138996	NM_152610.3(CCDC185):c.1760A>G (p.Gln587Arg)	CCDC185 (Q587R)	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 3138994	NM_152610.3(CCDC185):c.1270C>A (p.Leu424Met)	CCDC185 (L424M)	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 3138992	NM_152610.3(CCDC185):c.1118A>G (p.Gln373Arg)	CCDC185 (Q373R)	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 3062480	GRCh37/hg19 1q41(chr1:222698623-224065782)x3	AIDA, BROX +11 more	Copy number gain	not specified	GUncertain significance
Select item 2685843	GRCh37/hg19 1q41-42.11(chr1:222641390-224104993)x1	AIDA, BROX +11 more	Copy number loss	not provided	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 2620533	NM_152610.3(CCDC185):c.937T>C (p.Trp313Arg)	CCDC185 (W313R)	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 2605360	NM_152610.3(CCDC185):c.1862G>A (p.Arg621Lys)	CCDC185 (R621K)	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 2602636	NM_152610.3(CCDC185):c.119C>T (p.Ser40Phe)	CCDC185 (S40F)	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 2598093	NM_152610.3(CCDC185):c.1019C>T (p.Pro340Leu)	CCDC185 (P340L)	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 2559574	NM_152610.3(CCDC185):c.1813C>T (p.Leu605Phe)	CCDC185 (L605F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2536727	NM_152610.3(CCDC185):c.1833G>T (p.Glu611Asp)	CCDC185 (E611D)	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 2509259	NM_152610.3(CCDC185):c.1409G>A (p.Arg470Gln)	CCDC185 (R470Q)	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 2484409	NM_152610.3(CCDC185):c.1168C>T (p.Arg390Trp)	CCDC185 (R390W)	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 2467242	NM_152610.3(CCDC185):c.1665G>C (p.Lys555Asn)	CCDC185 (K555N)	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 2408911	NM_152610.3(CCDC185):c.67G>A (p.Gly23Arg)	CCDC185 (G23R)	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 2322268	NM_152610.3(CCDC185):c.115G>A (p.Asp39Asn)	CCDC185 (D39N)	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 2310336	NM_152610.3(CCDC185):c.994C>T (p.Arg332Trp)	CCDC185 (R332W)	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 2300561	NM_152610.3(CCDC185):c.1237G>A (p.Val413Met)	CCDC185 (V413M)	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 2290090	NM_152610.3(CCDC185):c.109G>A (p.Gly37Arg)	CCDC185 (G37R)	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 2274518	NM_152610.3(CCDC185):c.1389C>A (p.His463Gln)	CCDC185 (H463Q)	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 2248393	NM_152610.3(CCDC185):c.146C>A (p.Pro49Gln)	CCDC185 (P49Q)	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 2245061	NM_152610.3(CCDC185):c.773A>G (p.Gln258Arg)	CCDC185 (Q258R)	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 2221322	NM_152610.3(CCDC185):c.562G>A (p.Val188Ile)	CCDC185 (V188I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1809014	GRCh37/hg19 1q41-42.12(chr1:221325488-225804228)x1	AIDA, BROX +21 more	Copy number loss	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527559	GRCh37/hg19 1q41-42.13(chr1:221303919-227461343)	ACBD3, AIDA +38 more	Copy number gain	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 997085	GRCh37/hg19 1q41-42.12(chr1:223552998-224761890)	CCDC185, CNIH4 +7 more	Copy number loss	Global developmental delay	GPathogenic
Select item 979934	GRCh37/hg19 1q41-42.12(chr1:222605125-224696628)x1	TLR5, DEGS1 +16 more	Copy number loss	not provided	GPathogenic
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814166	GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1	PSEN2, FBXO28 +42 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 814162	GRCh37/hg19 1q41-42.11(chr1:219734913-224104993)x1	BROX, HHIPL2 +24 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394951	GRCh37/hg19 1q41(chr1:223557383-223568717)x3	CCDC185	Copy number gain	See cases	GLikely benign
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 146516	GRCh38/hg38 1q41(chr1:220673535-223683512)x1	AIDA, BROX +84 more	Copy number loss	See cases	GPathogenic
Select item 146329	GRCh38/hg38 1q41(chr1:222676842-223882311)x1	AIDA, BROX +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 88