"Genetic Services Laboratory, University of Chicago"[submitter] AND "C - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 158119	NM_001080414.4(CCDC88C):c.5980C>G (p.Arg1994Gly)	CCDC88C (R1994G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 158118	NM_001080414.4(CCDC88C):c.5975T>C (p.Leu1992Pro)	CCDC88C (L1992P)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 40 +3 more	GBenign
Select item 158117	NM_001080414.4(CCDC88C):c.5954C>G (p.Ser1985Cys)	CCDC88C (S1985C)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 158116	NM_001080414.4(CCDC88C):c.5948G>C (p.Gly1983Ala)	CCDC88C (G1983A)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1337020	NM_001080414.4(CCDC88C):c.5906C>T (p.Pro1969Leu)	CCDC88C (P1969L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely 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 158114	NM_001080414.4(CCDC88C):c.4975C>A (p.Arg1659=)	CCDC88C	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 40 +3 more	GBenign
Select item 1337028	NM_001080414.4(CCDC88C):c.4894G>A (p.Glu1632Lys)	CCDC88C (E1632K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 158113	NM_001080414.4(CCDC88C):c.4621C>T (p.Arg1541Cys)	CCDC88C (R1541C)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 158112	NM_001080414.4(CCDC88C):c.4107G>A (p.Gln1369=)	CCDC88C	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 158111	NM_001080414.4(CCDC88C):c.3969G>A (p.Leu1323=)	CCDC88C	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 158110	NM_001080414.4(CCDC88C):c.3966+12G>A	CCDC88C	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 40 +3 more	GBenign
Select item 434623	NM_001080414.4(CCDC88C):c.3890A>T (p.Gln1297Leu)	CCDC88C (Q1297L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 158109	NM_001080414.4(CCDC88C):c.3636-14C>T	CCDC88C	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 158108	NM_001080414.4(CCDC88C):c.3393G>T (p.Ala1131=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 158107	NM_001080414.4(CCDC88C):c.3372G>A (p.Thr1124=)	CCDC88C	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 434622	NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser)	CCDC88C (A1068S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 158099	NM_001080414.4(CCDC88C):c.3083C>T (p.Ala1028Val)	CCDC88C (A1028V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 158098	NM_001080414.4(CCDC88C):c.3009A>G (p.Leu1003=)	CCDC88C	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 40 +3 more	GBenign
Select item 158097	NM_001080414.4(CCDC88C):c.2456A>G (p.Asp819Gly)	CCDC88C (D819G)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 158096	NM_001080414.4(CCDC88C):c.2432C>A (p.Ala811Glu)	CCDC88C (A811E)	Single nucleotide variant (missense variant)	not specified +1 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 158094	NM_001080414.4(CCDC88C):c.1962G>A (p.Leu654=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 158093	NM_001080414.4(CCDC88C):c.1909C>G (p.Leu637Val)	CCDC88C (L637V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 158092	NM_001080414.4(CCDC88C):c.1773G>A (p.Glu591=)	CCDC88C	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 210618	NM_001080414.4(CCDC88C):c.1675C>T (p.Leu559Phe)	CCDC88C (L559F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 158091	NM_001080414.4(CCDC88C):c.1608A>G (p.Arg536=)	CCDC88C	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 158105	NM_001080414.4(CCDC88C):c.1131C>T (p.Gly377=)	CCDC88C	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 434624	NM_001080414.4(CCDC88C):c.1126C>T (p.Arg376Trp)	CCDC88C (R376W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 158089	NM_001080414.4(CCDC88C):c.1020C>T (p.His340=)	CCDC88C	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1336290	NM_001080414.4(CCDC88C):c.987G>A (p.Glu329=)	CCDC88C	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 158124	NM_001080414.4(CCDC88C):c.969C>T (p.Asn323=)	CCDC88C	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 158128	NM_001080414.4(CCDC88C):c.912C>T (p.Asp304=)	CCDC88C	Single nucleotide variant (synonymous variant)	not specified +1 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 158122	NM_001080414.4(CCDC88C):c.809+11G>A	CCDC88C	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 158121	NM_001080414.4(CCDC88C):c.754C>G (p.Leu252Val)	CCDC88C (L252V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 158106	NM_001080414.4(CCDC88C):c.322G>A (p.Gly108Ser)	CCDC88C (G108S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 158090	NM_001080414.4(CCDC88C):c.114C>T (p.Tyr38=)	CCDC88C	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 40 +3 more	GBenign
Select item 158120	NM_001080414.4(CCDC88C):c.60+8C>A	CCDC88C, LOC130056326	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 40 +3 more	GBenign

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Items: 39