"Baylor Genetics"[submitter] AND "NCAPD3"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032666	NM_015261.3(NCAPD3):c.3278_3281del (p.Lys1093fs)	NCAPD3 (K1093fs +1 more)	Deletion (frameshift variant)	Microcephaly 22, primary, autosomal recessive	GPathogenic
Select item 1029376	NM_015261.3(NCAPD3):c.2707G>A (p.Ala903Thr)	NCAPD3 (A765T +1 more)	Single nucleotide variant (missense variant)	Microcephaly 22, primary, autosomal recessive	GUncertain significance
Select item 1029375	NM_015261.3(NCAPD3):c.2257A>G (p.Asn753Asp)	NCAPD3 (N615D +1 more)	Single nucleotide variant (missense variant)	Microcephaly 22, primary, autosomal recessive	GUncertain significance
Select item 1029374	NM_015261.3(NCAPD3):c.2135C>T (p.Thr712Met)	NCAPD3 (T574M +1 more)	Single nucleotide variant (missense variant)	Microcephaly 22, primary, autosomal recessive	GUncertain significance
Select item 1031889	NM_015261.3(NCAPD3):c.2062G>T (p.Ala688Ser)	NCAPD3 (A550S +1 more)	Single nucleotide variant (missense variant)	Microcephaly 22, primary, autosomal recessive	GUncertain significance
Select item 1029372	NM_015261.3(NCAPD3):c.1000G>A (p.Ala334Thr)	NCAPD3 (A334T +1 more)	Single nucleotide variant (missense variant)	Microcephaly 22, primary, autosomal recessive +1 more	GUncertain significance
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 625595	GRCh37/hg19 11q25(chr11:133325079-134157243)	ACAD8, GLB1L3 +8 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 625594	GRCh37/hg19 11q24.2-25(chr11:125446101-134904063)	ACAD8, ACRV1 +51 more	Copy number loss	11q partial monosomy syndrome	GPathogenic