"Baylor Genetics"[submitter] AND "KIF22"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1034378	NM_007317.3(KIF22):c.8C>T (p.Ala3Val)	KIF22 (A3V)	Single nucleotide variant (5 prime UTR variant +1 more)	Spondyloepimetaphyseal dysplasia with multiple dislocations +1 more	GUncertain significance
Select item 1029156	NM_007317.3(KIF22):c.502T>C (p.Trp168Arg)	KIF22 (W100R +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with multiple dislocations	GUncertain significance
Select item 1034376	NM_007317.3(KIF22):c.1647C>G (p.His549Gln)	KIF22 (H481Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1034377	NM_007317.3(KIF22):c.1818T>G (p.Ser606Arg)	KIF22 (S538R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2582410	NM_007317.3(KIF22):c.1898_1915del (p.Asp633_Glu638del)	KIF22	Deletion (inframe_deletion)	Spondyloepimetaphyseal dysplasia with multiple dislocations	GUncertain significance
Select item 625688	GRCh37/hg19 16p11.2(chr16:29673203-30199713)	ALDOA, ASPHD1 +25 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 625650	GRCh37/hg19 16p11.2(chr16:29595483-30199713)	ALDOA, ASPHD1 +25 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 625608	GRCh37/hg19 16p11.2(chr16:29727054-29969912)	ASPHD1, C16orf54 +9 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 625607	GRCh37/hg19 16p11.2(chr16:29678569-30199578)	ALDOA, ASPHD1 +25 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 625606	GRCh37/hg19 16p11.2(chr16:29678569-30199402)	ALDOA, ASPHD1 +25 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 625605	GRCh37/hg19 16p11.2(chr16:29673203-30133233)	ALDOA, ASPHD1 +24 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 625604	GRCh37/hg19 16p11.2(chr16:29595483-30199713)	ALDOA, ASPHD1 +25 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 625603	GRCh37/hg19 16p11.2(chr16:29532264-30271237)	ALDOA, ASPHD1 +28 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 625602	GRCh37/hg19 16p11.2(chr16:29042050-30199025)	ALDOA, ASPHD1 +28 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic