Related gene-specific medical variations for Gene (Select 8818) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442789	NM_003863.4(DPM2):c.197G>A (p.Gly66Glu)	DPM2 (G36E +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely pathogenic
Select item 1676354	NM_003863.4(DPM2):c.196+102C>T	DPM2	Single nucleotide variant	not provided	GLikely benign
Select item 1524656	NM_003863.4(DPM2):c.3+3G>A	DPM2, LOC130002675	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 1399311	NM_003863.4(DPM2):c.3+6A>G	DPM2, LOC130002675	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 937139	NM_003863.4(DPM2):c.3+5G>A	DPM2, LOC130002675	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 843254	NM_003863.4(DPM2):c.3+3G>T	DPM2, LOC130002675	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 595715	NM_003863.4(DPM2):c.-4G>A	DPM2, LOC130002675	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 390048	NM_003863.4(DPM2):c.-11C>T	DPM2, LOC130002675	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 385714	NM_003863.4(DPM2):c.-11C>G	DPM2, LOC130002675	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 365115	NM_003863.4(DPM2):c.-5G>A	DPM2, LOC130002675	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance