"Revvity Omics, Revvity"[submitter] AND "TGM1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12491	NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly)	TGM1 (D490G)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +2 more	GConflicting classifications of pathogenicity
Select item 2434140	NM_000359.3(TGM1):c.1401dup (p.Gly468fs)	TGM1 (G468fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2437071	NM_000359.3(TGM1):c.1318G>T (p.Asp440Tyr)	TGM1 (D440Y)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 372535	NM_000359.3(TGM1):c.1082T>C (p.Ile361Thr)	TGM1 (I361T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 12484	NM_000359.3(TGM1):c.968G>A (p.Arg323Gln)	TGM1 (R323Q)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +2 more	GPathogenic
Select item 39531	NM_000359.3(TGM1):c.944G>T (p.Arg315Leu)	TGM1 (R315L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 39530	NM_000359.3(TGM1):c.944G>A (p.Arg315His)	TGM1 (R315H)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +2 more	GPathogenic
Select item 279911	NM_000359.3(TGM1):c.877-2A>G	TGM1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 1 +2 more	GPathogenic
Select item 372532	NM_000359.3(TGM1):c.790C>T (p.Arg264Trp)	TGM1 (R264W)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 12500	NM_000359.3(TGM1):c.652G>A (p.Gly218Ser)	TGM1 (G218S)	Single nucleotide variant (missense variant)	Congenital ichthyosiform erythroderma +3 more	GPathogenic/Likely pathogenic
Select item 372784	NM_000359.3(TGM1):c.420A>G (p.Ile140Met)	TGM1 (I140M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2434143	NM_000359.3(TGM1):c.365C>A (p.Ser122Ter)	TGM1 (S122*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic