"Baylor Genetics"[submitter] AND "CIT"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030302	NM_001206999.2(CIT):c.4898G>A (p.Arg1633His)	CIT (R1633H +1 more)	Single nucleotide variant (missense variant)	Microcephaly 17, primary, autosomal recessive	GUncertain significance
Select item 1030301	NM_001206999.2(CIT):c.4897C>T (p.Arg1633Cys)	CIT (R1591C +1 more)	Single nucleotide variant (missense variant)	Microcephaly 17, primary, autosomal recessive	GUncertain significance
Select item 1030300	NM_001206999.2(CIT):c.4691C>A (p.Pro1564Gln)	CIT (P1522Q +1 more)	Single nucleotide variant (missense variant)	Microcephaly 17, primary, autosomal recessive +1 more	GUncertain significance
Select item 1030299	NM_001206999.2(CIT):c.3157-5T>G	CIT	Single nucleotide variant (intron variant)	Microcephaly 17, primary, autosomal recessive	GUncertain significance
Select item 2441987	NM_001206999.2(CIT):c.2357A>G (p.Asn786Ser)	CIT (N744S +1 more)	Single nucleotide variant (missense variant)	Microcephaly 17, primary, autosomal recessive +1 more	GUncertain significance
Select item 2171345	NM_001206999.2(CIT):c.2086C>T (p.Arg696Cys)	CIT (R696C)	Single nucleotide variant (missense variant +1 more)	Microcephaly 17, primary, autosomal recessive +2 more	GUncertain significance
Select item 1032702	NM_001206999.2(CIT):c.1049A>G (p.Lys350Arg)	CIT (K350R)	Single nucleotide variant (missense variant)	Microcephaly 17, primary, autosomal recessive	GUncertain significance
Select item 1032701	NM_001206999.2(CIT):c.1031G>T (p.Gly344Val)	CIT (G344V)	Single nucleotide variant (missense variant)	Microcephaly 17, primary, autosomal recessive +1 more	GUncertain significance
Select item 1032704	NM_001206999.2(CIT):c.644T>C (p.Met215Thr)	CIT (M215T)	Single nucleotide variant (missense variant)	Microcephaly 17, primary, autosomal recessive	GUncertain significance