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Gene: KIF14 & Disease: MKS12, 28 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
183397	KIF14	c.1780A>T	p.Arg594Ter (p.R594X)	NM_014875.3 M	SNV	P	1 +	1
183396	KIF14	c.1750_1751del	p.Glu584fs (p.E584fs)	NM_014875.3 M	Del	P	1 +	1
183397	KIF14	c.307A>T	p.Arg103Ter (p.R103X)	NM_001305792.1	SNV	P	1 +	1
183396	KIF14	c.277_278del	p.Glu93fs (p.E93fs)	NM_001305792.1	Del	P	1 +	1
1033305	KIF14	c.1147A>G	p.Met383Val (p.M383V)	NM_014875.3 M	SNV	VUS	1 +	0
1033306	KIF14	c.1813G>T	p.Ala605Ser (p.A605S)	NM_014875.3 M	SNV	VUS	1 +	0
1223272	KIF14	c.4897C>G	p.Pro1633Ala (p.P1633A)	NM_014875.3 M	SNV	B	2 +	0
1290903	KIF14	c.4020G>A	p.Glu1340= (p.E1340=)	NM_014875.3 M	SNV	B	2 +	0
992963	KIF14	c.1514T>C	p.Leu505Pro (p.L505P)	NM_014875.3 M	SNV	LP	1 +	0
1287972	KIF14	c.3096A>G	p.Glu1032= (p.E1032=)	NM_014875.3 M	SNV	B	2 +	0
1030441	KIF14	c.4385G>A	p.Gly1462Glu (p.G1462E)	NM_014875.3 M	SNV	VUS	1 +	0
721215	KIF14	c.4842C>T	p.Asp1614= (p.D1614=)	NM_014875.3 M	SNV	LB	2 +	0
435619	KIF14	c.1087G>A	p.Val363Ile (p.V363I)	NM_014875.3 M	SNV	LB	2 +	0
426924	KIF14	c.3114+3A>C	--	NM_014875.3 M	SNV	VUS	1 +	0
426925	KIF14	c.4276A>C	p.Lys1426Gln (p.K1426Q)	NM_014875.3 M	SNV	VUS	1 +	0
2582301	KIF14	c.1270T>A	p.Tyr424Asn (p.Y424N)	NM_014875.3 M	SNV	VUS	1 +	0
1033305	KIF14	c.-239A>G	--	NM_001305792.1	SNV	VUS	1 +	0
1033306	KIF14	c.340G>T	p.Ala114Ser (p.A114S)	NM_001305792.1	SNV	VUS	1 +	0
1223272	KIF14	c.3424C>G	p.Pro1142Ala (p.P1142A)	NM_001305792.1	SNV	B	2 +	0
1290903	KIF14	c.2547G>A	p.Glu849= (p.E849=)	NM_001305792.1	SNV	B	2 +	0

28 Results, 20 per Page

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