"Counsyl"[submitter] AND "TGM1"[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 555338	NM_000359.3(TGM1):c.2440C>T (p.Arg814Ter)	TGM1 (R814*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 550509	NM_000359.3(TGM1):c.2417_2419del (p.Gly806del)	TGM1 (G806del)	Deletion (inframe_deletion)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 553195	NM_000359.3(TGM1):c.2381dup (p.Phe795fs)	TGM1 (F795fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
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 39536	NM_000359.3(TGM1):c.2278C>T (p.Arg760Ter)	TGM1 (R760*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 553508	NM_000359.3(TGM1):c.2226-2A>G	TGM1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 1	GPathogenic/Likely pathogenic
Select item 554032	NM_000359.3(TGM1):c.2180G>A (p.Arg727Gln)	TGM1 (R727Q)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GUncertain significance
Select item 554229	NM_000359.3(TGM1):c.2066G>A (p.Arg689His)	TGM1 (R689H)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 557884	NM_000359.3(TGM1):c.2059C>T (p.Arg687Cys)	TGM1 (R687C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GConflicting classifications of pathogenicity
Select item 558187	NM_000359.3(TGM1):c.1984C>T (p.Gln662Ter)	TGM1 (Q662*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 553684	NM_000359.3(TGM1):c.1849_1850del (p.Val618fs)	TGM1 (V618fs)	Microsatellite (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 39523	NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter)	TGM1 (Q582*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553307	NM_000359.3(TGM1):c.1649C>G (p.Ser550Ter)	TGM1 (S550*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 550231	NM_000359.3(TGM1):c.1631A>G (p.Tyr544Cys)	TGM1 (Y544C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 556696	NM_000359.3(TGM1):c.1609C>T (p.Arg537Trp)	TGM1 (R537W)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 552650	NM_000359.3(TGM1):c.1570G>A (p.Gly524Ser)	TGM1 (G524S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 552831	NM_000359.3(TGM1):c.1313G>A (p.Trp438Ter)	TGM1 (W438*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 553999	NM_000359.3(TGM1):c.1298+2T>C	TGM1	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 550631	NM_000359.3(TGM1):c.1289A>T (p.Asp430Val)	TGM1 (D430V)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 556069	NM_000359.3(TGM1):c.1261A>G (p.Met421Val)	TGM1 (M421V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 555175	NM_000359.3(TGM1):c.1226_1227del (p.Thr409fs)	TGM1 (T409fs)	Microsatellite (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GPathogenic
Select item 39533	NM_000359.3(TGM1):c.1187G>A (p.Arg396His)	TGM1 (R396H)	Single nucleotide variant (missense variant)	not provided +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 553891	NM_000359.3(TGM1):c.1184C>T (p.Thr395Ile)	TGM1 (T395I)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 12489	NM_000359.3(TGM1):c.1166G>A (p.Arg389His)	TGM1 (R389H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 551121	NM_000359.3(TGM1):c.1163T>C (p.Leu388Pro)	TGM1 (L388P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 552554	NM_000359.3(TGM1):c.1160-2_1160-1del	TGM1	Deletion (splice acceptor variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 553911	NM_000359.3(TGM1):c.1159+1G>A	TGM1	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 552303	NM_000359.3(TGM1):c.1159+1G>T	TGM1	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
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 39532	NM_000359.3(TGM1):c.1075G>A (p.Val359Met)	TGM1 (V359M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 553856	NM_000359.3(TGM1):c.1074C>G (p.Ser358Arg)	TGM1 (S358R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic
Select item 557197	NM_000359.3(TGM1):c.1042_1043insTC (p.Arg348fs)	TGM1 (R348fs)	Insertion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 556205	NM_000359.3(TGM1):c.1042C>T (p.Arg348Ter)	TGM1 (R348*)	Single nucleotide variant (nonsense)	Lamellar ichthyosis +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 449108	NM_000359.3(TGM1):c.967C>T (p.Arg323Trp)	TGM1 (R323W)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +2 more	GConflicting classifications of pathogenicity
Select item 39531	NM_000359.3(TGM1):c.944G>T (p.Arg315Leu)	TGM1 (R315L)	Single nucleotide variant (missense variant)	TGM1-related condition +2 more	GPathogenic/Likely pathogenic
Select item 39530	NM_000359.3(TGM1):c.944G>A (p.Arg315His)	TGM1 (R315H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 39529	NM_000359.3(TGM1):c.943C>T (p.Arg315Cys)	TGM1 (R315C)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +2 more	GPathogenic/Likely pathogenic
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 265269	NM_000359.3(TGM1):c.872G>A (p.Gly291Asp)	TGM1 (G291D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 555662	NM_000359.3(TGM1):c.871G>A (p.Gly291Ser)	TGM1 (G291S)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 12492	NM_000359.3(TGM1):c.832G>A (p.Gly278Arg)	TGM1 (G278R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 556211	NM_000359.3(TGM1):c.802del (p.Val268fs)	TGM1 (V268fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1 +2 more	GPathogenic/Likely pathogenic
Select item 372532	NM_000359.3(TGM1):c.790C>T (p.Arg264Trp)	TGM1 (R264W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 419403	NM_000359.3(TGM1):c.788G>A (p.Trp263Ter)	TGM1 (W263*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1 +2 more	GPathogenic
Select item 553789	NM_000359.3(TGM1):c.704T>A (p.Leu235Ter)	TGM1 (L235*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 555912	NM_000359.3(TGM1):c.679C>T (p.Gln227Ter)	TGM1 (Q227*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 550497	NM_000359.3(TGM1):c.674G>A (p.Arg225His)	TGM1 (R225H)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 12500	NM_000359.3(TGM1):c.652G>A (p.Gly218Ser)	TGM1 (G218S)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +3 more	GPathogenic/Likely pathogenic
Select item 552052	NM_000359.3(TGM1):c.635C>T (p.Ser212Phe)	TGM1 (S212F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 551893	NM_000359.3(TGM1):c.579G>A (p.Trp193Ter)	TGM1 (W193*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1 +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 555239	NM_000359.3(TGM1):c.431G>A (p.Gly144Glu)	TGM1 (G144E)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 556724	NM_000359.3(TGM1):c.430G>A (p.Gly144Arg)	TGM1 (G144R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 12481	NM_000359.3(TGM1):c.428G>A (p.Arg143His)	TGM1 (R143H)	Single nucleotide variant (missense variant)	not provided +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)	Lamellar ichthyosis +3 more	GPathogenic/Likely pathogenic
Select item 12483	NM_000359.3(TGM1):c.424C>T (p.Arg142Cys)	TGM1 (R142C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 551268	NM_000359.3(TGM1):c.401A>G (p.Tyr134Cys)	TGM1 (Y134C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 279910	NM_000359.3(TGM1):c.379C>T (p.Arg127Ter)	TGM1 (R127*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1 +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 39528	NM_000359.3(TGM1):c.376C>T (p.Arg126Cys)	TGM1 (R126C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 554234	NM_000359.3(TGM1):c.320-1G>T	TGM1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 558256	NM_000359.3(TGM1):c.316C>T (p.Arg106Ter)	TGM1 (R106*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 12497	NM_000359.3(TGM1):c.281G>A (p.Gly94Asp)	TGM1 (G94D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 449511	NM_000359.3(TGM1):c.232C>T (p.Arg78Ter)	TGM1 (R78*)	Single nucleotide variant (nonsense)	not provided +3 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 554786	NM_000359.3(TGM1):c.160C>T (p.Arg54Ter)	TGM1 (R54*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic
Select item 556570	NM_000359.3(TGM1):c.159C>A (p.Cys53Ter)	TGM1 (C53*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 265597	NM_000359.3(TGM1):c.132G>A (p.Trp44Ter)	TGM1 (W44*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 555498	NM_000359.3(TGM1):c.78GCCAGA[5] (p.26EP[5])	TGM1	Microsatellite (inframe_insertion)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 553811	NM_000359.3(TGM1):c.95_96insGCCTGA (p.26_27EP[4])	TGM1	Insertion (inframe_insertion)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 552505	NM_000359.3(TGM1):c.78GCCAGA[2] (p.26EP[2])	TGM1	Microsatellite (inframe_deletion)	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

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Items: 76