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Gene: ZCCHC8 & Disease: PFBMFT5, 35 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
786612	ZCCHC8	c.1345+5G>A	--	NM_017612.5 M	SNV	LB	1 +	2
	ZCCHC8	c.631+5G>A	--	NM_001350938.2	SNV	LB	1 +	2
	ZCCHC8	c.1114+5G>A	--	NM_001350935.2	SNV	LB	1 +	2
	ZCCHC8	c.631+5G>A	--	NM_001350937.2	SNV	LB	1 +	2
	ZCCHC8	c.1048+5G>A	--	NM_001350936.2	SNV	LB	1 +	2
932915	ZCCHC8	c.1487C>T	p.Thr496Ile (p.T496I)	NM_017612.5 M	SNV	VUS	1 +	1
1684250	ZCCHC8	c.1140+29A>G	--	NM_017612.5 M	SNV	B	1 +	1
1684251	ZCCHC8	c.200-44T>C	--	NM_017612.5 M	SNV	B	1 +	1
1029475	ZCCHC8	c.508G>A	p.Gly170Arg (p.G170R)	NM_017612.5 M	SNV	VUS	1 +	1
694674	ZCCHC8	c.557C>T	p.Pro186Leu (p.P186L)	NM_017612.5 M	SNV	P	1 +	1
1675154	ZCCHC8	c.550G>A	p.Gly184Arg (p.G184R)	NM_017612.5 M	SNV	VUS	1 +	1
932915	ZCCHC8	c.1256C>T	p.Thr419Ile (p.T419I)	NM_001350935.2	SNV	VUS	1 +	1
	ZCCHC8	c.1190C>T	p.Thr397Ile (p.T397I)	NM_001350936.2	SNV	VUS	1 +	1
	ZCCHC8	c.773C>T	p.Thr258Ile (p.T258I)	NM_001350937.2	SNV	VUS	1 +	1
	ZCCHC8	c.773C>T	p.Thr258Ile (p.T258I)	NM_001350938.2	SNV	VUS	1 +	1
1684250	ZCCHC8	c.426+29A>G	--	NM_001350938.2	SNV	B	1 +	1
	ZCCHC8	c.909+29A>G	--	NM_001350935.2	SNV	B	1 +	1
	ZCCHC8	c.426+29A>G	--	NM_001350937.2	SNV	B	1 +	1
	ZCCHC8	c.843+29A>G	--	NM_001350936.2	SNV	B	1 +	1
1684251	ZCCHC8	c.-239-44T>C	--	NM_001350938.2	SNV	B	1 +	1

35 Results, 20 per Page

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