"PreventionGenetics, part of Exact Sciences"[submitter] AND "TGM1"[gen - ClinVar

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Items: 25

	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 +2 more	GConflicting classifications of pathogenicity
Select item 763195	NM_000359.3(TGM1):c.2089-8TC[2]	TGM1	Microsatellite (intron variant)	TGM1-related disorder +1 more	GLikely benign
Select item 709472	NM_000359.3(TGM1):c.1819C>T (p.Arg607Cys)	TGM1 (R607C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1152344	NM_000359.3(TGM1):c.1767G>T (p.Val589=)	TGM1	Single nucleotide variant (synonymous variant)	TGM1-related disorder +1 more	GLikely benign
Select item 742155	NM_000359.3(TGM1):c.1653C>T (p.Asp551=)	TGM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 235714	NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly)	TGM1 (E520G)	Single nucleotide variant (missense variant)	TGM1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 12496	NM_000359.3(TGM1):c.1552G>A (p.Val518Met)	TGM1 (V518M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1127582	NM_000359.3(TGM1):c.1492-7C>T	TGM1	Single nucleotide variant (intron variant)	TGM1-related disorder +1 more	GLikely benign
Select item 12488	NM_000359.3(TGM1):c.1147G>A (p.Val383Met)	TGM1 (V383M)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +4 more	GPathogenic/Likely pathogenic
Select item 255941	NM_000359.3(TGM1):c.1146C>A (p.Gly382=)	TGM1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 312981	NM_000359.3(TGM1):c.1113C>T (p.Ser371=)	TGM1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 39531	NM_000359.3(TGM1):c.944G>T (p.Arg315Leu)	TGM1 (R315L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +2 more	GPathogenic/Likely pathogenic
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 12495	NM_000359.3(TGM1):c.857G>A (p.Arg286Gln)	TGM1 (R286Q)	Single nucleotide variant (missense variant)	TGM1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 255942	NM_000359.3(TGM1):c.726G>A (p.Glu242=)	TGM1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1628561	NM_000359.3(TGM1):c.615G>C (p.Leu205=)	TGM1	Single nucleotide variant (synonymous variant)	TGM1-related disorder +1 more	GLikely benign
Select item 766335	NM_000359.3(TGM1):c.519C>T (p.Pro173=)	TGM1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3042424	NM_000359.3(TGM1):c.509-334C>T	TGM1	Single nucleotide variant (intron variant)	TGM1-related disorder	GLikely benign
Select item 225488	NM_000359.3(TGM1):c.463C>T (p.Arg155Trp)	TGM1 (R155W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 785455	NM_000359.3(TGM1):c.394G>A (p.Asp132Asn)	TGM1 (D132N)	Single nucleotide variant (missense variant)	TGM1-related disorder +1 more	GBenign/Likely benign
Select item 449511	NM_000359.3(TGM1):c.232C>T (p.Arg78Ter)	TGM1 (R78*)	Single nucleotide variant (nonsense)	TGM1-related disorder +3 more	GPathogenic
Select item 1112569	NM_000359.3(TGM1):c.219C>T (p.Ser73=)	TGM1	Single nucleotide variant (synonymous variant)	TGM1-related disorder +1 more	GLikely benign
Select item 732193	NM_000359.3(TGM1):c.167C>T (p.Ala56Val)	TGM1 (A56V)	Single nucleotide variant (missense variant)	TGM1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 12480	NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr)	TGM1 (S42Y)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 720195	NM_000359.3(TGM1):c.61A>G (p.Thr21Ala)	TGM1 (T21A)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +3 more	GConflicting classifications of pathogenicity

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Items: 25