ClinVar for Gene (Select 114800) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264337	NM_001080433.2(CCDC85A):c.581G>A (p.Cys194Tyr)	CCDC85A (C194Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264336	NM_001080433.2(CCDC85A):c.800C>A (p.Thr267Asn)	CCDC85A (T267N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264335	NM_001080433.2(CCDC85A):c.1193A>C (p.Gln398Pro)	CCDC85A (Q398P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264334	NM_001080433.2(CCDC85A):c.1627C>A (p.His543Asn)	CCDC85A (H458N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264333	NM_001080433.2(CCDC85A):c.566G>C (p.Ser189Thr)	CCDC85A (S189T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264332	NM_001080433.2(CCDC85A):c.224G>A (p.Arg75His)	CCDC85A, LOC100129434 (R75H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139478	NM_001080433.2(CCDC85A):c.994A>G (p.Ser332Gly)	CCDC85A (S332G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139477	NM_001080433.2(CCDC85A):c.992A>G (p.His331Arg)	CCDC85A (H331R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139476	NM_001080433.2(CCDC85A):c.811C>A (p.Pro271Thr)	CCDC85A (P271T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139475	NM_001080433.2(CCDC85A):c.769G>A (p.Glu257Lys)	CCDC85A (E257K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139474	NM_001080433.2(CCDC85A):c.74C>G (p.Ser25Trp)	CCDC85A, LOC100129434 (S25W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139473	NM_001080433.2(CCDC85A):c.701C>T (p.Pro234Leu)	CCDC85A (P234L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139472	NM_001080433.2(CCDC85A):c.62C>T (p.Ala21Val)	CCDC85A, LOC100129434 (A21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139471	NM_001080433.2(CCDC85A):c.61G>T (p.Ala21Ser)	CCDC85A, LOC100129434 (A21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139470	NM_001080433.2(CCDC85A):c.601G>C (p.Ala201Pro)	CCDC85A (A201P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139469	NM_001080433.2(CCDC85A):c.5C>G (p.Ser2Trp)	CCDC85A, LOC100129434 (S2W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139468	NM_001080433.2(CCDC85A):c.586C>G (p.Leu196Val)	CCDC85A (L196V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139467	NM_001080433.2(CCDC85A):c.388G>A (p.Gly130Ser)	CCDC85A (G130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139466	NM_001080433.2(CCDC85A):c.1657A>T (p.Met553Leu)	CCDC85A (M586L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139465	NM_001080433.2(CCDC85A):c.1427T>C (p.Ile476Thr)	CCDC85A (I476T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139464	NM_001080433.2(CCDC85A):c.1304G>T (p.Arg435Leu)	CCDC85A (R435L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685852	GRCh37/hg19 2p16.1(chr2:56422435-56743077)x3	CCDC85A	Copy number gain	not provided	GUncertain significance
Select item 2650955	NM_001080433.2(CCDC85A):c.1149C>A (p.Gly383=)	CCDC85A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650954	NM_001080433.2(CCDC85A):c.768C>T (p.Pro256=)	CCDC85A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2601032	NM_001080433.2(CCDC85A):c.1513A>G (p.Ser505Gly)	CCDC85A (S460G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593865	NM_001080433.2(CCDC85A):c.989G>C (p.Arg330Thr)	CCDC85A (R330T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548369	NM_001080433.2(CCDC85A):c.38C>T (p.Ala13Val)	CCDC85A, LOC100129434 (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540001	NM_001080433.2(CCDC85A):c.1373G>A (p.Gly458Asp)	CCDC85A (G458D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484813	NM_001080433.2(CCDC85A):c.1453G>C (p.Gly485Arg)	CCDC85A (G485R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482986	NM_001080433.2(CCDC85A):c.920A>T (p.Lys307Met)	CCDC85A (K307M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477280	NM_001080433.2(CCDC85A):c.868C>T (p.Pro290Ser)	CCDC85A (P290S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471119	NM_001080433.2(CCDC85A):c.160C>T (p.Arg54Cys)	CCDC85A, LOC100129434 (R54C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468503	NM_001080433.2(CCDC85A):c.1222G>A (p.Val408Ile)	CCDC85A (V408I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459423	NM_001080433.2(CCDC85A):c.1033G>T (p.Gly345Trp)	CCDC85A (G345W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455449	NM_001080433.2(CCDC85A):c.1274C>T (p.Ala425Val)	CCDC85A (A425V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388713	NM_001080433.2(CCDC85A):c.126G>C (p.Glu42Asp)	CCDC85A, LOC100129434 (E42D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380615	NM_001080433.2(CCDC85A):c.1034G>A (p.Gly345Glu)	CCDC85A (G345E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362877	NM_001080433.2(CCDC85A):c.1034G>C (p.Gly345Ala)	CCDC85A (G345A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354172	NM_001080433.2(CCDC85A):c.574A>G (p.Ser192Gly)	CCDC85A (S192G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328532	NM_001080433.2(CCDC85A):c.287A>T (p.Gln96Leu)	CCDC85A (Q96L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318928	NM_001080433.2(CCDC85A):c.394T>C (p.Tyr132His)	CCDC85A (Y132H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308057	NM_001080433.2(CCDC85A):c.424G>T (p.Ala142Ser)	CCDC85A (A142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296969	NM_001080433.2(CCDC85A):c.773A>G (p.His258Arg)	CCDC85A (H258R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292743	NM_001080433.2(CCDC85A):c.823A>G (p.Lys275Glu)	CCDC85A (K275E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224719	NM_001080433.2(CCDC85A):c.47A>G (p.Glu16Gly)	CCDC85A, LOC100129434 (E16G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526740	GRCh37/hg19 2p16.1(chr2:55588867-56935857)	CCDC85A, CCDC88A +6 more	Copy number loss	not specified	GUncertain significance
Select item 973059	GRCh37/hg19 2p16.1(chr2:56141953-56942624)x3	CCDC85A, EFEMP1 +2 more	Copy number gain	not provided	Gnot provided
Select item 689038	GRCh37/hg19 2p16.1(chr2:56175876-60780215)x1	BCL11A, CCDC85A +4 more	Copy number loss	not provided	GPathogenic
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443680	GRCh37/hg19 2p16.1(chr2:55588867-56927117)x1	CCDC85A, CCDC88A +6 more	Copy number loss	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 147996	GRCh38/hg38 2p16.1(chr2:55570578-60519844)x1	BCL11A, CCDC85A +83 more	Copy number loss	See cases	GPathogenic
Select item 146372	GRCh38/hg38 2p16.1(chr2:56220787-56406370)x1	CCDC85A, LOC126806223	Copy number loss	See cases	Gconflicting data from submitters
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 60