Related gene-specific medical variations for Gene (Select 114327) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689001	NM_018100.4(EFHC1):c.499del (p.Asp167fs)	EFHC1 (D148fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2656640	NC_000006.12:g.52413132G>T	EFHC1	Single nucleotide variant	not provided	GBenign
Select item 1325574	NM_018100.4(EFHC1):c.21T>A (p.His7Gln)	EFHC1 (H7Q)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1	GUncertain significance
Select item 1319722	NM_018100.4(EFHC1):c.77A>C (p.His26Pro)	EFHC1 (H26P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 993789	NM_018100.4(EFHC1):c.754A>G (p.Thr252Ala)	EFHC1 (T233A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253961	GRCh37/hg19 6p12.2(chr6:52302945-52319369)x3	EFHC1	Copy number gain	See cases	GUncertain significance

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