"PreventionGenetics, part of Exact Sciences"[submitter] AND "CCDC88C"[ - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2662321	NM_001080414.4(CCDC88C):c.5981G>T (p.Arg1994Leu)	CCDC88C (R1994L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 158117	NM_001080414.4(CCDC88C):c.5954C>G (p.Ser1985Cys)	CCDC88C (S1985C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 377273	NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln)	CCDC88C (R1984Q)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 158115	NM_001080414.4(CCDC88C):c.5654G>A (p.Arg1885His)	CCDC88C (R1885H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 731841	NM_001080414.4(CCDC88C):c.5635C>T (p.Arg1879Trp)	CCDC88C (R1879W)	Single nucleotide variant (missense variant)	CCDC88C-related disorder +1 more	GBenign/Likely benign
Select item 2077942	NM_001080414.4(CCDC88C):c.5578C>T (p.Arg1860Trp)	CCDC88C (R1860W)	Single nucleotide variant (missense variant)	CCDC88C-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 722879	NM_001080414.4(CCDC88C):c.5381C>G (p.Pro1794Arg)	CCDC88C (P1794R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 740310	NM_001080414.4(CCDC88C):c.5335C>T (p.Leu1779=)	CCDC88C	Single nucleotide variant (synonymous variant)	CCDC88C-related disorder +1 more	GBenign/Likely benign
Select item 587642	NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile)	CCDC88C (V1751I)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 40 +4 more	GConflicting classifications of pathogenicity
Select item 496944	NM_001080414.4(CCDC88C):c.5242G>A (p.Gly1748Arg)	CCDC88C (G1748R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 447023	NM_001080414.4(CCDC88C):c.5087T>C (p.Leu1696Pro)	CCDC88C (L1696P)	Single nucleotide variant (missense variant)	CCDC88C-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2068723	NM_001080414.4(CCDC88C):c.5086C>T (p.Leu1696=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 718128	NM_001080414.4(CCDC88C):c.4852C>T (p.Arg1618Trp)	CCDC88C (R1618W)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1033655	NM_001080414.4(CCDC88C):c.4768+6T>C	CCDC88C	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2716165	NM_001080414.4(CCDC88C):c.4704G>A (p.Ser1568=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 447019	NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala)	CCDC88C (T1527A)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1 +5 more	GConflicting classifications of pathogenicity
Select item 1711893	NM_001080414.4(CCDC88C):c.4538C>T (p.Ser1513Leu)	CCDC88C (S1513L)	Single nucleotide variant (missense variant)	CCDC88C-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 764927	NM_001080414.4(CCDC88C):c.4383C>G (p.Pro1461=)	CCDC88C	Single nucleotide variant (synonymous variant)	CCDC88C-related disorder +1 more	GLikely benign
Select item 447017	NM_001080414.4(CCDC88C):c.4265C>T (p.Ser1422Leu)	CCDC88C (S1422L)	Single nucleotide variant (missense variant)	CCDC88C-related disorder +2 more	GBenign/Likely benign
Select item 733821	NM_001080414.4(CCDC88C):c.4173A>G (p.Gln1391=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3021208	NM_001080414.4(CCDC88C):c.4032G>C (p.Leu1344=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2633958	NM_001080414.4(CCDC88C):c.3930G>A (p.Met1310Ile)	CCDC88C (M1310I)	Single nucleotide variant (missense variant)	CCDC88C-related disorder	GUncertain significance
Select item 376774	NM_001080414.4(CCDC88C):c.3895C>T (p.Arg1299Cys)	CCDC88C (R1299C)	Single nucleotide variant (missense variant)	CCDC88C-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2981770	NM_001080414.4(CCDC88C):c.3867G>A (p.Ala1289=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 723451	NM_001080414.4(CCDC88C):c.3828C>T (p.His1276=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 713623	NM_001080414.4(CCDC88C):c.3640G>A (p.Gly1214Ser)	CCDC88C (G1214S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2885565	NM_001080414.4(CCDC88C):c.3636-9C>T	CCDC88C	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2076798	NM_001080414.4(CCDC88C):c.3555C>T (p.Tyr1185=)	CCDC88C	Single nucleotide variant (synonymous variant)	CCDC88C-related disorder +1 more	GBenign/Likely benign
Select item 3017675	NM_001080414.4(CCDC88C):c.3520C>T (p.Leu1174=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 158108	NM_001080414.4(CCDC88C):c.3393G>T (p.Ala1131=)	CCDC88C	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 743240	NM_001080414.4(CCDC88C):c.3260A>G (p.Asn1087Ser)	CCDC88C (N1087S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 740753	NM_001080414.4(CCDC88C):c.2613G>A (p.Ala871=)	CCDC88C	Single nucleotide variant (synonymous variant)	CCDC88C-related disorder +1 more	GLikely benign
Select item 731977	NM_001080414.4(CCDC88C):c.2568C>T (p.Asp856=)	CCDC88C	Single nucleotide variant (synonymous variant)	CCDC88C-related disorder +1 more	GBenign/Likely benign
Select item 158097	NM_001080414.4(CCDC88C):c.2456A>G (p.Asp819Gly)	CCDC88C (D819G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2865003	NM_001080414.4(CCDC88C):c.2448C>T (p.Ala816=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 447015	NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val)	CCDC88C (A798V)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1 +5 more	GConflicting classifications of pathogenicity
Select item 737481	NM_001080414.4(CCDC88C):c.2370C>T (p.Gly790=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2197458	NM_001080414.4(CCDC88C):c.2365C>T (p.Leu789=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3037271	NM_001080414.4(CCDC88C):c.2266C>T (p.Arg756Cys)	CCDC88C (R756C)	Single nucleotide variant (missense variant)	CCDC88C-related disorder	GUncertain significance
Select item 2971401	NM_001080414.4(CCDC88C):c.2064G>A (p.Val688=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 718129	NM_001080414.4(CCDC88C):c.1666-5C>T	CCDC88C	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 783048	NM_001080414.4(CCDC88C):c.1527+8G>A	CCDC88C	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2801500	NM_001080414.4(CCDC88C):c.1455G>A (p.Ala485=)	CCDC88C	Single nucleotide variant (synonymous variant)	CCDC88C-related disorder +1 more	GLikely benign
Select item 741132	NM_001080414.4(CCDC88C):c.1342+9C>T	CCDC88C	Single nucleotide variant (intron variant)	CCDC88C-related disorder +1 more	GLikely benign
Select item 807166	NM_001080414.4(CCDC88C):c.1341C>T (p.Asp447=)	CCDC88C	Single nucleotide variant (synonymous variant)	CCDC88C-related disorder +1 more	GLikely benign
Select item 713284	NM_001080414.4(CCDC88C):c.1158G>C (p.Glu386Asp)	CCDC88C (E386D)	Single nucleotide variant (missense variant)	CCDC88C-related disorder +1 more	GBenign/Likely benign
Select item 2896700	NM_001080414.4(CCDC88C):c.1062A>G (p.Glu354=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2421366	NM_001080414.4(CCDC88C):c.834G>A (p.Val278=)	CCDC88C	Single nucleotide variant (synonymous variant)	CCDC88C-related disorder +1 more	GLikely benign
Select item 2633118	NM_001080414.4(CCDC88C):c.767T>C (p.Leu256Pro)	CCDC88C (L256P)	Single nucleotide variant (missense variant)	CCDC88C-related disorder	GUncertain significance
Select item 2964700	NM_001080414.4(CCDC88C):c.624+9G>A	CCDC88C	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3031353	NM_001080414.4(CCDC88C):c.484-7C>G	CCDC88C	Single nucleotide variant (intron variant)	CCDC88C-related disorder	GLikely benign
Select item 734187	NM_001080414.4(CCDC88C):c.400-5C>T	CCDC88C	Single nucleotide variant (intron variant)	CCDC88C-related disorder +1 more	GLikely benign
Select item 797846	NM_001080414.4(CCDC88C):c.372G>A (p.Leu124=)	CCDC88C	Single nucleotide variant (synonymous variant)	CCDC88C-related disorder +1 more	GBenign/Likely benign
Select item 2351186	NM_001080414.4(CCDC88C):c.358A>G (p.Ile120Val)	CCDC88C (I120V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 782882	NM_001080414.4(CCDC88C):c.336G>A (p.Leu112=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 731953	NM_001080414.4(CCDC88C):c.273A>G (p.Glu91=)	CCDC88C	Single nucleotide variant (synonymous variant)	CCDC88C-related disorder +1 more	GLikely benign
Select item 724106	NM_001080414.4(CCDC88C):c.21G>A (p.Glu7=)	CCDC88C, LOC130056326	Single nucleotide variant (synonymous variant)	CCDC88C-related disorder +1 more	GBenign/Likely benign

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Items: 57