C4551630[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552621	NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys)	TGM1 (R764C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 1333234	NM_000359.3(TGM1):c.984+1G>A	TGM1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 449108	NM_000359.3(TGM1):c.967C>T (p.Arg323Trp)	TGM1 (R323W)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 1333584	NM_000359.3(TGM1):c.964T>C (p.Ser322Pro)	TGM1 (S322P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 1333263	NM_000359.3(TGM1):c.541G>A (p.Val181Met)	TGM1 (V181M)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 633817	NM_000359.3(TGM1):c.400T>C (p.Tyr134His)	TGM1 (Y134H)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GPathogenic/Likely pathogenic
Select item 449511	NM_000359.3(TGM1):c.232C>T (p.Arg78Ter)	TGM1 (R78*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1 +2 more	GPathogenic

ClinVar