"GeneDx"[submitter] AND "KIF22"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 58735	GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1	ALDOA, APOBR +186 more	Copy number loss	See cases	GPathogenic
Select item 60372	GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1	LOC130058756, LOC130058757 +170 more	Copy number loss	See cases	GPathogenic
Select item 1270559	NC_000016.10:g.29790478G>A	LOC130058781, KIF22	Single nucleotide variant	not provided	GBenign
Select item 193354	NM_007317.3(KIF22):c.-3G>A	KIF22	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 1315213	NM_007317.3(KIF22):c.69A>G (p.Ser23=)	KIF22	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1288146	NM_007317.3(KIF22):c.70+265T>C	KIF22	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1287198	NM_007317.3(KIF22):c.267-60AC[15]	KIF22	Microsatellite (intron variant)	not provided	GBenign
Select item 196453	NM_007317.3(KIF22):c.267-21TTTC[2]	KIF22	Microsatellite (intron variant)	not specified +1 more	GBenign
Select item 1304202	NM_007317.3(KIF22):c.281A>G (p.Tyr94Cys)	KIF22 (Y26C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30334	NM_007317.3(KIF22):c.443C>T (p.Pro148Leu)	KIF22 (P148L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
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	GConflicting classifications of pathogenicity
Select item 1309375	NM_007317.3(KIF22):c.576G>A (p.Ser192=)	KIF22	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
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 1169575	NM_007317.3(KIF22):c.1069T>A (p.Ser357Thr)	KIF22 (S289T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1170585	NM_007317.3(KIF22):c.1230C>T (p.Ile410=)	KIF22	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with multiple dislocations +1 more	GBenign
Select item 1194989	NM_007317.3(KIF22):c.1339G>A (p.Asp447Asn)	KIF22 (D379N +1 more)	Single nucleotide variant (missense variant)	KIF22-related condition +1 more	GBenign/Likely benign
Select item 1181128	NM_007317.3(KIF22):c.1449+217A>G	KIF22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 194399	NM_007317.3(KIF22):c.1951-13_1951-10del	KIF22	Deletion (intron variant)	not specified +1 more	GBenign
Select item 253669	GRCh37/hg19 16p11.2(chr16:29646320-30197341)x3	MAZ, TLCD3B +25 more	Copy number gain	See cases	GPathogenic
Select item 253535	GRCh37/hg19 16p11.2(chr16:29656684-30197341)x1	SPN, HIRIP3 +25 more	Copy number loss	See cases	GPathogenic
Select item 253525	GRCh37/hg19 16p11.2(chr16:29060171-30197341)x3	SPN, CORO1A +28 more	Copy number gain	See cases	GPathogenic
Select item 253490	GRCh37/hg19 16p11.2(chr16:29060171-30195607)x3	QPRT, ALDOA +28 more	Copy number gain	See cases	GPathogenic
Select item 253381	GRCh37/hg19 16p11.2(chr16:29656684-30197341)x3	CORO1A, ASPHD1 +25 more	Copy number gain	See cases	GPathogenic
Select item 253374	GRCh37/hg19 16p11.2(chr16:29646320-30197341)x1	GDPD3, TBX6 +25 more	Copy number loss	See cases	GPathogenic

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Items: 28