ClinVar for MedGen (Select 854455) - ClinVar

Links from MedGen

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3779016	NM_001080414.4(CCDC88C):c.796G>A (p.Val266Ile)	CCDC88C (V266I)	Single nucleotide variant (missense variant +1 more)	Hydrocephalus, nonsyndromic, autosomal recessive 1	GUncertain significance
Select item 3779015	NM_001080414.4(CCDC88C):c.5977G>A (p.Gly1993Ser)	CCDC88C (G1993S)	Single nucleotide variant (missense variant +1 more)	Hydrocephalus, nonsyndromic, autosomal recessive 1	GUncertain significance
Select item 3779014	NM_001080414.4(CCDC88C):c.5080G>A (p.Asp1694Asn)	CCDC88C (D1694N)	Single nucleotide variant (missense variant +1 more)	Hydrocephalus, nonsyndromic, autosomal recessive 1	GUncertain significance
Select item 3779013	NM_001080414.4(CCDC88C):c.4990T>A (p.Ser1664Thr)	CCDC88C (S1664T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3779012	NM_001080414.4(CCDC88C):c.4757T>C (p.Leu1586Pro)	CCDC88C (L1586P)	Single nucleotide variant (missense variant +1 more)	Hydrocephalus, nonsyndromic, autosomal recessive 1	GUncertain significance
Select item 3779010	NM_001080414.4(CCDC88C):c.3808G>T (p.Gly1270Trp)	CCDC88C (G1270W)	Single nucleotide variant (missense variant +1 more)	Hydrocephalus, nonsyndromic, autosomal recessive 1	GUncertain significance
Select item 3576906	NM_001080414.4(CCDC88C):c.77C>T (p.Pro26Leu)	CCDC88C (P26L)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 40 +1 more	GUncertain significance
Select item 3576905	NM_001080414.4(CCDC88C):c.99_100insGGTT (p.Asn34delinsGlyTer)	CCDC88C	Insertion (nonsense +1 more)	Spinocerebellar ataxia type 40 +1 more	GLikely pathogenic
Select item 3576904	NM_001080414.4(CCDC88C):c.105_108del (p.Thr36fs)	CCDC88C (T36fs)	Deletion (frameshift variant +1 more)	Spinocerebellar ataxia type 40 +1 more	GLikely pathogenic
Select item 3576903	NM_001080414.4(CCDC88C):c.340+1G>T	CCDC88C	Single nucleotide variant (splice donor variant)	Spinocerebellar ataxia type 40 +1 more	GLikely pathogenic
Select item 3576902	NM_001080414.4(CCDC88C):c.483+1G>T	CCDC88C	Single nucleotide variant (splice donor variant)	Spinocerebellar ataxia type 40 +1 more	GLikely pathogenic
Select item 3576900	NM_001080414.4(CCDC88C):c.613G>T (p.Glu205Ter)	CCDC88C (E205*)	Single nucleotide variant (nonsense +1 more)	Spinocerebellar ataxia type 40 +1 more	GLikely pathogenic
Select item 3576899	NM_001080414.4(CCDC88C):c.1259T>C (p.Ile420Thr)	CCDC88C (I420T)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 40 +1 more	GUncertain significance
Select item 3576898	NM_001080414.4(CCDC88C):c.1637del (p.Glu546fs)	CCDC88C (E546fs)	Deletion (frameshift variant +1 more)	Spinocerebellar ataxia type 40 +1 more	GLikely pathogenic
Select item 3576897	NM_001080414.4(CCDC88C):c.2206dup (p.Glu736fs)	CCDC88C (E736fs)	Duplication (frameshift variant +1 more)	Spinocerebellar ataxia type 40 +1 more	GLikely pathogenic
Select item 3576896	NM_001080414.4(CCDC88C):c.2903dup (p.Leu968fs)	CCDC88C (L968fs)	Duplication (frameshift variant +1 more)	Spinocerebellar ataxia type 40 +1 more	GLikely pathogenic
Select item 3576895	NM_001080414.4(CCDC88C):c.3013A>T (p.Lys1005Ter)	CCDC88C (K1005*)	Single nucleotide variant (nonsense +1 more)	Spinocerebellar ataxia type 40 +1 more	GLikely pathogenic
Select item 3576894	NM_001080414.4(CCDC88C):c.3074A>G (p.Lys1025Arg)	CCDC88C (K1025R)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 40 +1 more	GUncertain significance
Select item 3576893	NM_001080414.4(CCDC88C):c.3166_3167insT (p.Lys1056fs)	CCDC88C (K1056fs)	Insertion (frameshift variant +1 more)	Spinocerebellar ataxia type 40 +1 more	GLikely pathogenic
Select item 3576892	NM_001080414.4(CCDC88C):c.3195+1G>T	CCDC88C	Single nucleotide variant (splice donor variant)	Spinocerebellar ataxia type 40 +1 more	GLikely pathogenic
Select item 3576891	NM_001080414.4(CCDC88C):c.3310del (p.Leu1104fs)	CCDC88C (L1104fs)	Deletion (frameshift variant +1 more)	Spinocerebellar ataxia type 40 +1 more	GLikely pathogenic
Select item 3576890	NM_001080414.4(CCDC88C):c.3358-2A>C	CCDC88C	Single nucleotide variant (splice acceptor variant)	Spinocerebellar ataxia type 40 +2 more	GLikely pathogenic
Select item 3576889	NM_001080414.4(CCDC88C):c.3550G>T (p.Glu1184Ter)	CCDC88C (E1184*)	Single nucleotide variant (nonsense +1 more)	Spinocerebellar ataxia type 40 +1 more	GLikely pathogenic
Select item 3576888	NM_001080414.4(CCDC88C):c.3733G>A (p.Ala1245Thr)	CCDC88C (A1245T)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 40 +1 more	GUncertain significance
Select item 3576887	NM_001080414.4(CCDC88C):c.3796del (p.His1266fs)	CCDC88C (H1266fs)	Deletion (frameshift variant +1 more)	Spinocerebellar ataxia type 40 +1 more	GLikely pathogenic
Select item 3576886	NM_001080414.4(CCDC88C):c.4090_4093delinsATT (p.His1364fs)	CCDC88C (H1364fs)	Indel (frameshift variant +1 more)	Spinocerebellar ataxia type 40 +1 more	GLikely pathogenic
Select item 3576885	NM_001080414.4(CCDC88C):c.4096G>T (p.Glu1366Ter)	CCDC88C (E1366*)	Single nucleotide variant (nonsense +1 more)	Spinocerebellar ataxia type 40 +1 more	GLikely pathogenic
Select item 3576884	NM_001080414.4(CCDC88C):c.4113-1_4117del	CCDC88C	Deletion (splice acceptor variant)	Spinocerebellar ataxia type 40 +1 more	GLikely pathogenic
Select item 3576883	NM_001080414.4(CCDC88C):c.4651C>G (p.Leu1551Val)	CCDC88C (L1551V)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 40 +1 more	GUncertain significance
Select item 3576882	NM_001080414.4(CCDC88C):c.4768+1G>T	CCDC88C	Single nucleotide variant (splice donor variant)	Spinocerebellar ataxia type 40 +1 more	GLikely pathogenic
Select item 3576881	NM_001080414.4(CCDC88C):c.5132dup (p.Gln1712fs)	CCDC88C (Q1712fs)	Duplication (frameshift variant +1 more)	Spinocerebellar ataxia type 40 +1 more	GLikely pathogenic
Select item 3576880	NM_001080414.4(CCDC88C):c.5250C>G (p.Tyr1750Ter)	CCDC88C (Y1750*)	Single nucleotide variant (nonsense +1 more)	Spinocerebellar ataxia type 40 +1 more	GLikely pathogenic
Select item 3487111	NM_001080414.4(CCDC88C):c.1748C>T (p.Ala583Val)	CCDC88C (A583V)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 3264394	NM_001080414.4(CCDC88C):c.4495C>T (p.Arg1499Cys)	CCDC88C (R1499C)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1 +1 more	GConflicting classifications of pathogenicity
Select item 3234949	NM_001080414.4(CCDC88C):c.3160C>T (p.Arg1054Ter)	CCDC88C (R1054*)	Single nucleotide variant (nonsense)	Hydrocephalus, nonsyndromic, autosomal recessive 1	GLikely pathogenic
Select item 3139587	NM_001080414.4(CCDC88C):c.5584C>T (p.Pro1862Ser)	CCDC88C (P1862S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3067852	NM_001080414.4(CCDC88C):c.1597G>T (p.Glu533Ter)	CCDC88C (E533*)	Single nucleotide variant (nonsense)	Hydrocephalus, nonsyndromic, autosomal recessive 1	GLikely pathogenic
Select item 3064928	NM_001080414.4(CCDC88C):c.6016_6017del (p.Lys2006fs)	CCDC88C (K2006fs)	Deletion (frameshift variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1	GUncertain significance
Select item 3064826	NM_001080414.4(CCDC88C):c.4465C>T (p.Arg1489Ter)	CCDC88C (R1489*)	Single nucleotide variant (nonsense)	Hydrocephalus, nonsyndromic, autosomal recessive 1	GUncertain significance
Select item 2993938	NM_001080414.4(CCDC88C):c.5273_5276del (p.Thr1758fs)	CCDC88C (T1758fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2957330	NM_001080414.4(CCDC88C):c.5101C>T (p.Arg1701Ter)	CCDC88C (R1701*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2956067	NM_001080414.4(CCDC88C):c.1420_1421del (p.Ser474fs)	CCDC88C (S474fs)	Microsatellite (frameshift variant)	Spinocerebellar ataxia type 40 +2 more	GPathogenic/Likely pathogenic
Select item 2869345	NM_001080414.4(CCDC88C):c.5522_5525del (p.Gly1841fs)	CCDC88C (G1841fs)	Deletion (frameshift variant)	Spinocerebellar ataxia type 40 +3 more	GConflicting classifications of pathogenicity
Select item 2846535	NM_001080414.4(CCDC88C):c.4442-2A>G	CCDC88C	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GLikely pathogenic
Select item 2644452	NM_001080414.4(CCDC88C):c.5378C>G (p.Ala1793Gly)	CCDC88C (A1793G)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1 +1 more	GConflicting classifications of pathogenicity
Select item 2628091	NM_001145313.3(FSD1L):c.1411C>T (p.Gln471Ter)	FSD1L (Q438* +3 more)	Single nucleotide variant (nonsense)	Hydrocephalus, nonsyndromic, autosomal recessive 1	GPathogenic
Select item 2576626	NM_001080414.4(CCDC88C):c.739G>A (p.Glu247Lys)	CCDC88C (E247K)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 40 +2 more	GUncertain significance
Select item 2375013	NM_001080414.4(CCDC88C):c.4793G>A (p.Arg1598Gln)	CCDC88C (R1598Q)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2342103	NM_001080414.4(CCDC88C):c.3323A>C (p.Asn1108Thr)	CCDC88C (N1108T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2214173	NM_001080414.4(CCDC88C):c.5449G>A (p.Gly1817Arg)	CCDC88C (G1817R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2183223	NM_001080414.4(CCDC88C):c.1120C>T (p.Arg374Trp)	CCDC88C (R374W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2163153	NM_001080414.4(CCDC88C):c.5209G>A (p.Ala1737Thr)	CCDC88C (A1737T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 40 +3 more	GConflicting classifications of pathogenicity
Select item 2146914	NM_001080414.4(CCDC88C):c.1720C>T (p.Arg574Trp)	CCDC88C (R574W)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1 +2 more	GConflicting classifications of pathogenicity
Select item 2121585	NM_001080414.4(CCDC88C):c.1085C>T (p.Thr362Ile)	CCDC88C (T362I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701677	NM_001080414.4(CCDC88C):c.3404A>G (p.Gln1135Arg)	CCDC88C (Q1135R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 40 +1 more	GUncertain significance
Select item 1325520	NM_001080414.4(CCDC88C):c.925C>T (p.Arg309Cys)	CCDC88C (R309C)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1 +1 more	GUncertain significance
Select item 1192626	NM_001080414.4(CCDC88C):c.61-85T>C	CCDC88C	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 40 +1 more	GBenign
Select item 1192625	NM_001080414.4(CCDC88C):c.1527+128A>G	CCDC88C	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1192544	NM_001080414.4(CCDC88C):c.4630+78G>T	CCDC88C	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1184360	NM_001080414.4(CCDC88C):c.4864A>G (p.Thr1622Ala)	CCDC88C (T1622A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1033655	NM_001080414.4(CCDC88C):c.4768+6T>C	CCDC88C	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1033654	NM_001080414.4(CCDC88C):c.3358-5G>A	CCDC88C	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1033653	NM_001080414.4(CCDC88C):c.3072C>A (p.Phe1024Leu)	CCDC88C (F1024L)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1	GUncertain significance
Select item 1030084	NM_001080414.4(CCDC88C):c.3647T>G (p.Met1216Arg)	CCDC88C (M1216R)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1	GUncertain significance
Select item 1030083	NM_001080414.4(CCDC88C):c.3170A>G (p.Asp1057Gly)	CCDC88C (D1057G)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1 +2 more	GUncertain significance
Select item 930883	NM_001080414.4(CCDC88C):c.5281G>A (p.Glu1761Lys)	CCDC88C (E1761K)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1	GUncertain significance
Select item 918058	NM_001080414.4(CCDC88C):c.255dup (p.Lys86Ter)	CCDC88C (K86*)	Duplication (nonsense)	Hydrocephalus, nonsyndromic, autosomal recessive 1	GPathogenic
Select item 918055	NM_001080414.4(CCDC88C):c.161+5G>A	CCDC88C	Single nucleotide variant (intron variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1	GUncertain significance
Select item 786750	NM_001080414.4(CCDC88C):c.4287C>T (p.Thr1429=)	CCDC88C	Single nucleotide variant (synonymous variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1 +2 more	GBenign/Likely benign
Select item 786622	NM_001080414.4(CCDC88C):c.906G>A (p.Ala302=)	CCDC88C	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 40 +3 more	GBenign/Likely benign
Select item 711611	NM_001080414.4(CCDC88C):c.5183T>C (p.Phe1728Ser)	CCDC88C (F1728S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 708836	NM_001080414.4(CCDC88C):c.6027G>A (p.Pro2009=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 634447	NM_001080414.4(CCDC88C):c.2402G>A (p.Arg801Gln)	CCDC88C (R801Q)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1	GUncertain significance
Select item 623482	NM_001080414.4(CCDC88C):c.5265_5266del (p.Phe1755fs)	CCDC88C (F1755fs)	Deletion (frameshift variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1	GPathogenic
Select item 593224	NM_001080414.4(CCDC88C):c.5695del (p.Leu1899fs)	CCDC88C (L1899fs)	Deletion (frameshift variant)	Spinocerebellar ataxia type 40 +2 more	GConflicting classifications of pathogenicity
Select item 524092	NM_001080414.4(CCDC88C):c.755dup (p.Ala253fs)	CCDC88C (A253fs)	Duplication (frameshift variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1 +2 more	GLikely pathogenic
Select item 518258	NM_001080414.4(CCDC88C):c.1050+9C>T	CCDC88C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 447020	NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=)	CCDC88C	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 447019	NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala)	CCDC88C (T1527A)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 447018	NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala)	CCDC88C (V1478A)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 40 +3 more	GBenign/Likely benign
Select item 447015	NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val)	CCDC88C (A798V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 444336	NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu)	CCDC88C (P2009L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 377273	NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln)	CCDC88C (R1984Q)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1 +3 more	GBenign/Likely benign
Select item 376980	NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln)	CCDC88C (R197Q)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1 +2 more	GConflicting classifications of pathogenicity
Select item 374251	NM_020812.4(DOCK6):c.934C>T (p.His312Tyr)	DOCK6 (H312Y)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1 +1 more	GUncertain significance
Select item 158124	NM_001080414.4(CCDC88C):c.969C>T (p.Asn323=)	CCDC88C	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 40 +3 more	GBenign/Likely benign
Select item 158120	NM_001080414.4(CCDC88C):c.60+8C>A	CCDC88C, LOC130056326	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 158118	NM_001080414.4(CCDC88C):c.5975T>C (p.Leu1992Pro)	CCDC88C (L1992P)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 158114	NM_001080414.4(CCDC88C):c.4975C>A (p.Arg1659=)	CCDC88C	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 158110	NM_001080414.4(CCDC88C):c.3966+12G>A	CCDC88C	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 158098	NM_001080414.4(CCDC88C):c.3009A>G (p.Leu1003=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 158095	NM_001080414.4(CCDC88C):c.2204G>A (p.Arg735His)	CCDC88C (R735H)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 158090	NM_001080414.4(CCDC88C):c.114C>T (p.Tyr38=)	CCDC88C	Single nucleotide variant (synonymous variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1 +3 more	GBenign
Select item 155879	NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His)	CCDC88C (R464H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 39862	NM_001080414.4(CCDC88C):c.5841_5842del (p.Glu1949fs)	CCDC88C (E1949fs)	Deletion (frameshift variant)	Congenital hydrocephalus	GLikely pathogenic
Select item 39861	NM_001080414.4(CCDC88C):c.934C>T (p.Arg312Ter)	CCDC88C (R312*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 39860	NM_001080414.4(CCDC88C):c.5058+1G>A	CCDC88C	Single nucleotide variant (splice donor variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1	GPathogenic

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Items: 97