"Genome-Nilou Lab"[submitter] AND "TGM1"[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1342288	NM_000359.3(TGM1):c.*4C>T	TGM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GBenign
Select item 719753	NM_000359.3(TGM1):c.2405A>T (p.Asp802Val)	TGM1 (D802V)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GBenign/Likely benign
Select item 39536	NM_000359.3(TGM1):c.2278C>T (p.Arg760Ter)	TGM1 (R760*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 312970	NM_000359.3(TGM1):c.2264C>T (p.Ser755Leu)	TGM1 (S755L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 312971	NM_000359.3(TGM1):c.2221G>A (p.Val741Ile)	TGM1 (V741I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 709472	NM_000359.3(TGM1):c.1819C>T (p.Arg607Cys)	TGM1 (R607C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GBenign
Select item 39523	NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter)	TGM1 (Q582*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 778737	NM_000359.3(TGM1):c.1645+5C>A	TGM1	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GBenign
Select item 1511895	NM_000359.3(TGM1):c.1645+1G>T	TGM1	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 633790	NM_000359.3(TGM1):c.1420C>T (p.Pro474Ser)	TGM1 (P474S)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 372536	NM_000359.3(TGM1):c.1417G>A (p.Gly473Ser)	TGM1 (G473S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1195231	NM_000359.3(TGM1):c.1264A>T (p.Lys422Ter)	TGM1 (K422*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 39537	NM_000359.3(TGM1):c.1223_1227del (p.Asp408fs)	TGM1 (D408fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 39533	NM_000359.3(TGM1):c.1187G>A (p.Arg396His)	TGM1 (R396H)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 12487	NM_000359.3(TGM1):c.1187G>T (p.Arg396Leu)	TGM1 (R396L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 633787	NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys)	TGM1 (R396C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +2 more	GPathogenic/Likely pathogenic
Select item 12489	NM_000359.3(TGM1):c.1166G>A (p.Arg389His)	TGM1 (R389H)	Single nucleotide variant (missense variant)	Abnormality of the skin +3 more	GPathogenic/Likely pathogenic
Select item 552554	NM_000359.3(TGM1):c.1160-2_1160-1del	TGM1	Deletion (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 12488	NM_000359.3(TGM1):c.1147G>A (p.Val383Met)	TGM1 (V383M)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +3 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 12486	NM_000359.3(TGM1):c.1135G>C (p.Val379Leu)	TGM1 (V379L)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +2 more	GPathogenic
Select item 312981	NM_000359.3(TGM1):c.1113C>T (p.Ser371=)	TGM1	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GBenign/Likely benign
Select item 553856	NM_000359.3(TGM1):c.1074C>G (p.Ser358Arg)	TGM1 (S358R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 556205	NM_000359.3(TGM1):c.1042C>T (p.Arg348Ter)	TGM1 (R348*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
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 39529	NM_000359.3(TGM1):c.943C>T (p.Arg315Cys)	TGM1 (R315C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +2 more	GPathogenic/Likely pathogenic
Select item 372534	NM_000359.3(TGM1):c.919C>G (p.Arg307Gly)	TGM1 (R307G)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +2 more	GPathogenic
Select item 12499	NM_000359.3(TGM1):c.919C>T (p.Arg307Trp)	TGM1 (R307W)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +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 372533	NM_000359.3(TGM1):c.876+2T>C	TGM1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 265269	NM_000359.3(TGM1):c.872G>A (p.Gly291Asp)	TGM1 (G291D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 12495	NM_000359.3(TGM1):c.857G>A (p.Arg286Gln)	TGM1 (R286Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 12492	NM_000359.3(TGM1):c.832G>A (p.Gly278Arg)	TGM1 (G278R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 556211	NM_000359.3(TGM1):c.802del (p.Val268fs)	TGM1 (V268fs)	Deletion (frameshift variant)	Lamellar ichthyosis +2 more	GPathogenic/Likely pathogenic
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 419403	NM_000359.3(TGM1):c.788G>A (p.Trp263Ter)	TGM1 (W263*)	Single nucleotide variant (nonsense)	Lamellar ichthyosis +2 more	GPathogenic
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 555912	NM_000359.3(TGM1):c.679C>T (p.Gln227Ter)	TGM1 (Q227*)	Single nucleotide variant (nonsense)	not provided +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 551893	NM_000359.3(TGM1):c.579G>A (p.Trp193Ter)	TGM1 (W193*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 555976	NM_000359.3(TGM1):c.566dup (p.Ser190fs)	TGM1 (S190fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic
Select item 725484	NM_000359.3(TGM1):c.432G>A (p.Gly144=)	TGM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 791332	NM_000359.3(TGM1):c.429C>T (p.Arg143=)	TGM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 12481	NM_000359.3(TGM1):c.428G>A (p.Arg143His)	TGM1 (R143H)	Single nucleotide variant (missense variant)	Abnormality of the skin +2 more	GPathogenic/Likely pathogenic
Select item 372531	NM_000359.3(TGM1):c.427C>T (p.Arg143Cys)	TGM1 (R143C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 12485	NM_000359.3(TGM1):c.425G>A (p.Arg142His)	TGM1 (R142H)	Single nucleotide variant (missense variant)	Abnormality of the skin +3 more	GPathogenic/Likely pathogenic
Select item 12483	NM_000359.3(TGM1):c.424C>T (p.Arg142Cys)	TGM1 (R142C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +2 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 372530	NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter)	TGM1 (Y136*)	Duplication (nonsense)	Abnormality of the skin +2 more	GPathogenic
Select item 551268	NM_000359.3(TGM1):c.401A>G (p.Tyr134Cys)	TGM1 (Y134C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 312987	NM_000359.3(TGM1):c.383A>G (p.Glu128Gly)	TGM1 (E128G)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GBenign
Select item 279910	NM_000359.3(TGM1):c.379C>T (p.Arg127Ter)	TGM1 (R127*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 279909	NM_000359.3(TGM1):c.377G>A (p.Arg126His)	TGM1 (R126H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 312988	NM_000359.3(TGM1):c.366G>A (p.Ser122=)	TGM1	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GBenign
Select item 712145	NM_000359.3(TGM1):c.365C>T (p.Ser122Leu)	TGM1 (S122L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 312989	NM_000359.3(TGM1):c.361C>T (p.Arg121Cys)	TGM1 (R121C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GBenign/Likely benign
Select item 558256	NM_000359.3(TGM1):c.316C>T (p.Arg106Ter)	TGM1 (R106*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic
Select item 763858	NM_000359.3(TGM1):c.297A>G (p.Ala99=)	TGM1	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GBenign/Likely benign
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
Select item 280810	NM_000359.3(TGM1):c.184G>T (p.Gly62Ter)	TGM1 (G62*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 312995	NM_000359.3(TGM1):c.168G>A (p.Ala56=)	TGM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 554786	NM_000359.3(TGM1):c.160C>T (p.Arg54Ter)	TGM1 (R54*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 633816	NM_000359.3(TGM1):c.131G>A (p.Trp44Ter)	TGM1 (W44*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 776826	NM_000359.3(TGM1):c.54G>A (p.Gln18=)	TGM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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Items: 67