"Baylor Genetics"[submitter] AND "KIF7"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 596874	NM_198525.3(KIF7):c.3842G>T (p.Ser1281Ile)	KIF7 (S1281I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 652558	NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp)	KIF7 (R1262W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1027931	NM_198525.3(KIF7):c.2896-18T>A	KIF7	Single nucleotide variant (intron variant)	Hydrolethalus syndrome 2 +1 more	GUncertain significance
Select item 2441700	NM_198525.3(KIF7):c.2895+1G>C	KIF7	Single nucleotide variant (splice donor variant)	Acrocallosal syndrome	GLikely pathogenic
Select item 194289	NM_198525.3(KIF7):c.2672G>C (p.Arg891Thr)	KIF7 (R891T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 193949	NM_198525.3(KIF7):c.2236C>T (p.Arg746Trp)	KIF7 (R746W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 286561	NM_198525.3(KIF7):c.2105G>A (p.Arg702Gln)	KIF7 (R702Q)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Al-Gazali type +3 more	GUncertain significance
Select item 1033265	NM_198525.3(KIF7):c.1894C>T (p.Pro632Ser)	KIF7 (P632S)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Al-Gazali type	GUncertain significance
Select item 1027930	NM_198525.3(KIF7):c.1706G>A (p.Gly569Glu)	KIF7 (G569E)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Al-Gazali type	GUncertain significance
Select item 1033264	NM_198525.3(KIF7):c.1208T>C (p.Met403Thr)	KIF7 (M403T)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Al-Gazali type	GUncertain significance
Select item 1033263	NM_198525.3(KIF7):c.1180C>T (p.Pro394Ser)	KIF7 (P394S)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Al-Gazali type +2 more	GUncertain significance
Select item 1027932	NM_198525.3(KIF7):c.848G>A (p.Gly283Asp)	KIF7 (G283D)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Al-Gazali type	GUncertain significance
Select item 1033267	NM_198525.3(KIF7):c.787G>T (p.Gly263Cys)	KIF7 (G263C)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Al-Gazali type	GUncertain significance
Select item 424334	NM_198525.3(KIF7):c.721G>T (p.Gly241Cys)	KIF7 (G241C)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GUncertain significance
Select item 1033266	NM_198525.3(KIF7):c.214C>G (p.Gln72Glu)	KIF7 (Q72E)	Single nucleotide variant (missense variant)	Acrocallosal syndrome	GUncertain significance
Select item 317382	NM_198525.3(KIF7):c.208G>A (p.Val70Met)	KIF7 (V70M)	Single nucleotide variant (missense variant)	Acrocallosal syndrome +1 more	GUncertain significance
Select item 1024840	NM_198525.3(KIF7):c.50G>A (p.Arg17Gln)	KIF7 (R17Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic