C1855081[trait identifier] AND "Clinical Genetics DNA and cytogenetics - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 158851	NM_024596.5(MCPH1):c.228G>T (p.Val76=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GBenign
Select item 1174812	NM_024596.5(MCPH1):c.513G>T (p.Arg171Ser)	MCPH1 (R137S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 158872	NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr)	MCPH1 (A212T +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GBenign
Select item 158876	NM_024596.5(MCPH1):c.863C>A (p.Pro288His)	MCPH1 (P288H +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GBenign
Select item 158879	NM_024596.5(MCPH1):c.911G>T (p.Arg304Ile)	MCPH1 (R304I +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GBenign
Select item 21705	NM_024596.5(MCPH1):c.940G>C (p.Asp314His)	MCPH1 (D314H +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GBenign
Select item 96126	NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly)	MCPH1 (D392G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 96128	NM_024596.5(MCPH1):c.1428C>T (p.Phe476=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 158824	NM_024596.5(MCPH1):c.1719C>T (p.Ser573=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 158825	NM_024596.5(MCPH1):c.1728C>T (p.Gly576=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 158827	NM_024596.5(MCPH1):c.1782G>A (p.Thr594=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GBenign
Select item 158834	NM_024596.5(MCPH1):c.2045C>A (p.Thr682Asn)	MCPH1 (T682N)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GBenign
Select item 158843	NM_024596.5(MCPH1):c.2215-19A>G	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GBenign
Select item 158842	NM_024596.5(MCPH1):c.2215-15C>G	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 158844	NM_024596.5(MCPH1):c.2226C>T (p.Ser742=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GBenign
Select item 21702	NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val)	MCPH1, MCPH1-AS1 (A761V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GBenign
Select item 158856	NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly)	MCPH1, MCPH1-AS1 (S801G +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 158857	NM_024596.5(MCPH1):c.2418C>A (p.Ala806=)	MCPH1, MCPH1-AS1	Single nucleotide variant (synonymous variant)	Microcephaly 1, primary, autosomal recessive +2 more	GBenign
Select item 21703	NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser)	MCPH1, MCPH1-AS1 (P828S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign