"ITMI"[submitter] AND "CIC"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133919	NM_001386298.1(CIC):c.3190A>G (p.Ile1064Val)	CIC (I155V +1 more)	Single nucleotide variant (missense variant)	CIC-related disorder	GLikely benign
Select item 133920	NM_001386298.1(CIC):c.3278C>T (p.Ser1093Phe)	CIC (S184F +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133921	NM_001386298.1(CIC):c.3611C>T (p.Thr1204Met)	CIC (T295M +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133922	NM_001386298.1(CIC):c.4102G>A (p.Gly1368Ser)	CIC (G459S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 133923	NM_001386298.1(CIC):c.4157G>C (p.Gly1386Ala)	CIC (G477A +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133902	NM_001386298.1(CIC):c.4300G>A (p.Gly1434Ser)	CIC (G525S +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133893	NM_001386298.1(CIC):c.4421_4422delinsAA (p.Gly1474Glu)	CIC (G1474E +1 more)	Indel (missense variant)	not specified	Gnot provided
Select item 133894	NM_001386298.1(CIC):c.4636_4638del (p.Lys1546del)	CIC (K637del +1 more)	Deletion (inframe_deletion)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 133903	NM_001386298.1(CIC):c.4654G>A (p.Gly1552Ser)	CIC (G643S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 133896	NM_001386298.1(CIC):c.4706C>T (p.Pro1569Leu)	CIC (P660L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 133895	NM_001386298.1(CIC):c.4832A>G (p.Asn1611Ser)	CIC (N702S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 133897	NM_001386298.1(CIC):c.4873C>T (p.Arg1625Trp)	CIC (R716W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 133898	NM_001386298.1(CIC):c.4928C>T (p.Ser1643Leu)	CIC, LOC130064572 (S734L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 45	GUncertain significance
Select item 133899	NM_001386298.1(CIC):c.5045C>T (p.Pro1682Leu)	CIC (P773L +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133904	NM_001386298.1(CIC):c.5116G>A (p.Gly1706Ser)	CIC (G797S +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133900	NM_001386298.1(CIC):c.5404C>T (p.Pro1802Ser)	CIC (P893S +1 more)	Single nucleotide variant (missense variant)	See cases +1 more	GLikely benign
Select item 133901	NM_001386298.1(CIC):c.5414C>T (p.Pro1805Leu)	CIC (P896L +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133905	NM_001386298.1(CIC):c.5645C>A (p.Thr1882Lys)	CIC (T973K +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133906	NM_001386298.1(CIC):c.5683C>G (p.Leu1895Val)	CIC (L986V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 133907	NM_001386298.1(CIC):c.5929G>A (p.Gly1977Ser)	CIC (G1068S +1 more)	Single nucleotide variant (missense variant)	CIC-related disorder +1 more	GBenign/Likely benign
Select item 133908	NM_001386298.1(CIC):c.6037T>A (p.Ser2013Thr)	CIC (S1104T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 133909	NM_001386298.1(CIC):c.6212A>C (p.Tyr2071Ser)	CIC (Y1162S +2 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133911	NM_001386298.1(CIC):c.6280G>A (p.Ala2094Thr)	CIC (A1185T +2 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133912	NM_001386298.1(CIC):c.6329G>A (p.Gly2110Asp)	CIC (G1201D +2 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133913	NM_001386298.1(CIC):c.6385G>C (p.Glu2129Gln)	CIC (E1220Q +2 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133910	NM_001386298.1(CIC):c.6457C>T (p.Arg2153Trp)	CIC (R1244W +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 133915	NM_001386298.1(CIC):c.6556C>T (p.Arg2186Cys)	CIC (R1277C +2 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133914	NM_001386298.1(CIC):c.6652A>G (p.Ser2218Gly)	CIC (S1309G +2 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133916	NM_001386298.1(CIC):c.6683C>T (p.Pro2228Leu)	CIC (P1319L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 133918	NM_001386298.1(CIC):c.7214G>A (p.Arg2405His)	CIC (R1496H +4 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133917	NM_001386298.1(CIC):c.7343C>T (p.Pro2448Leu)	CIC (P1539L +4 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided

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Items: 31