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

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 39783	NM_003036.4(SKI):c.101G>T (p.Gly34Val)	SKI (G34V)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GPathogenic
Select item 39786	NM_003036.4(SKI):c.103C>T (p.Pro35Ser)	SKI (P35S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 1028067	NM_003036.4(SKI):c.1006A>G (p.Thr336Ala)	SKI (T336A)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 1028068	NM_003036.4(SKI):c.1328C>T (p.Pro443Leu)	SKI (P443L)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 1032105	NM_003036.4(SKI):c.2057C>A (p.Ala686Asp)	SKI (A686D)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 213710	NM_003036.4(SKI):c.2128T>C (p.Trp710Arg)	SKI (W710R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 625768	GRCh37/hg19 1p36.33-36.32(chr1:568708-2567832)	CFAP74, CPTP +62 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 625767	GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949)	MEGF6, MIB2 +71 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 625766	GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	ANKRD65, ARHGEF16 +97 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 625765	GRCh37/hg19 1p36.33-36.31(chr1:1471075-5831645)	ACTRT2, AJAP1 +41 more	Copy number gain	not provided	GPathogenic