ClinVar for MedGen (Select 350960) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367134	NM_007317.3(KIF22):c.1913A>C (p.Glu638Ala)	KIF22 (E570A +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with multiple dislocations	GUncertain significance
Select item 3362333	NM_007317.3(KIF22):c.1807G>C (p.Asp603His)	KIF22 (D535H +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with multiple dislocations	GUncertain significance
Select item 2689309	NM_007317.3(KIF22):c.1396C>T (p.Arg466Ter)	KIF22 (R398* +1 more)	Single nucleotide variant (nonsense)	Spondyloepimetaphyseal dysplasia with multiple dislocations	GUncertain significance
Select item 2663884	NM_007317.3(KIF22):c.392C>G (p.Ala131Gly)	KIF22 (A131G +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with multiple dislocations	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 2575102	NM_007317.3(KIF22):c.146G>A (p.Arg49Gln)	KIF22 (R49Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Spondyloepimetaphyseal dysplasia with multiple dislocations	GPathogenic
Select item 2498246	NM_007317.3(KIF22):c.361G>A (p.Ala121Thr)	KIF22 (A121T +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with multiple dislocations	GUncertain significance
Select item 2330348	NM_007317.3(KIF22):c.127C>T (p.Arg43Cys)	KIF22 (R43C)	Single nucleotide variant (5 prime UTR variant +1 more)	Spondyloepimetaphyseal dysplasia with multiple dislocations +1 more	GUncertain significance
Select item 1685360	NM_007317.3(KIF22):c.1399G>A (p.Glu467Lys)	KIF22 (E399K +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with multiple dislocations	GLikely pathogenic
Select item 1474517	NM_007317.3(KIF22):c.641C>A (p.Pro214His)	KIF22 (P214H +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with multiple dislocations +1 more	GUncertain significance
Select item 1299611	NM_007317.3(KIF22):c.752T>C (p.Leu251Pro)	KIF22 (L183P +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with multiple dislocations	GLikely pathogenic
Select item 1170585	NM_007317.3(KIF22):c.1230C>T (p.Ile410=)	KIF22	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 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 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 992442	NM_007317.3(KIF22):c.1630C>G (p.Pro544Ala)	KIF22 (P476A +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with multiple dislocations	GUncertain significance
Select item 803248	NM_007317.3(KIF22):c.1425G>A (p.Val475=)	KIF22	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with multiple dislocations +1 more	GBenign
Select item 784333	NM_007317.3(KIF22):c.1737G>A (p.Gln579=)	KIF22	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with multiple dislocations +1 more	GBenign/Likely benign
Select item 784332	NM_007317.3(KIF22):c.576G>C (p.Ser192=)	KIF22	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with multiple dislocations +1 more	GBenign/Likely benign
Select item 780181	NM_007317.3(KIF22):c.1145-6A>G	KIF22	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia with multiple dislocations +1 more	GBenign/Likely benign
Select item 597025	NM_007317.3(KIF22):c.1385G>A (p.Ser462Asn)	KIF22 (S462N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 547879	NM_007317.3(KIF22):c.1424T>G (p.Val475Gly)	KIF22 (V475G +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with multiple dislocations	GUncertain significance
Select item 520925	NM_007317.3(KIF22):c.1387A>G (p.Thr463Ala)	KIF22 (T463A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 30336	NM_007317.3(KIF22):c.446G>T (p.Arg149Leu)	KIF22 (R149L +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 30335	NM_007317.3(KIF22):c.446G>A (p.Arg149Gln)	KIF22 (R149Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 30334	NM_007317.3(KIF22):c.443C>T (p.Pro148Leu)	KIF22 (P148L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 30333	NM_007317.3(KIF22):c.442C>T (p.Pro148Ser)	KIF22 (P148S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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Items: 28