Related gene-specific medical variations for Gene (Select 107882126) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3150924	NM_182836.3(RABGGTA):c.1657G>A (p.Glu553Lys)	LOC107882126, RABGGTA (E553K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2679186	NM_000359.3(TGM1):c.-2-1G>C	LOC107882126, TGM1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 881586	NM_000359.3(TGM1):c.1A>G (p.Met1Val)	LOC107882126, TGM1 (M1V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 558650	NM_000359.3(TGM1):c.-2-1G>A	TGM1, LOC107882126	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 312999	NM_000359.3(TGM1):c.-42C>T	LOC107882126, TGM1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 312998	NM_000359.3(TGM1):c.-24C>T	LOC107882126, TGM1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance

ClinVar