Related gene-specific medical variations for Gene (Select 11113) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3145144	NM_001206999.2(CIT):c.167T>C (p.Phe56Ser)	CIT, LOC126861657 (F56S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145141	NM_001206999.2(CIT):c.142C>G (p.Arg48Gly)	CIT, LOC126861657 (R48G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2866718	NM_001206999.2(CIT):c.210T>A (p.Ile70=)	CIT, LOC126861657	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2440089	NM_001206999.2(CIT):c.4087C>T (p.Arg1363Trp)	CIT (R1321W +1 more)	Single nucleotide variant (missense variant)	Microcephaly 17, primary, autosomal recessive	GUncertain significance
Select item 2440087	NM_001206999.2(CIT):c.2227C>T (p.Arg743Trp)	CIT (R701W +1 more)	Single nucleotide variant (missense variant)	Microcephaly 17, primary, autosomal recessive	GUncertain significance
Select item 2428871	NM_001206999.2(CIT):c.148G>C (p.Gly50Arg)	CIT, LOC126861657 (G50R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2244855	NM_001206999.2(CIT):c.107C>T (p.Pro36Leu)	CIT, LOC126861657 (P36L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2135193	NM_001206999.2(CIT):c.4307-9C>T	CIT, MIR1178	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2080285	NM_001206999.2(CIT):c.197C>T (p.Ala66Val)	CIT, LOC126861657 (A66V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994960	NM_001206999.2(CIT):c.97-7T>C	CIT, LOC126861657	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1279215	NM_001206999.2(CIT):c.4307-40A>G	CIT, MIR1178	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1201336	NM_001206999.2(CIT):c.238+94G>A	CIT, LOC126861657	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194862	NM_001206999.2(CIT):c.238+59C>T	CIT, LOC126861657	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1176967	NM_001206999.2(CIT):c.143G>A (p.Arg48Gln)	CIT, LOC126861657 (R48Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 983415	NM_001206999.2(CIT):c.2087G>A (p.Arg696His)	CIT (R696H)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 784261	NM_001206999.2(CIT):c.216C>T (p.His72=)	CIT, LOC126861657	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734061	NM_001206999.2(CIT):c.232C>T (p.Arg78Trp)	CIT, LOC126861657 (R78W)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 377365	NM_001206999.2(CIT):c.1122dup (p.Phe375fs)	CIT (F375fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic