C4551630[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	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 39536	NM_000359.3(TGM1):c.2278C>T (p.Arg760Ter)	TGM1 (R760*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 952357	NM_000359.3(TGM1):c.2260del (p.Gln754fs)	TGM1 (Q754fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GLikely pathogenic
Select item 2679190	NM_000359.3(TGM1):c.2247_2248del (p.Val750fs)	TGM1 (V750fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 3240603	NM_000359.3(TGM1):c.2245dup (p.Thr749fs)	TGM1 (T749fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
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 1459722	NM_000359.3(TGM1):c.2090T>G (p.Leu697Ter)	TGM1 (L697*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic
Select item 1453639	NM_000359.3(TGM1):c.2060G>A (p.Arg687His)	TGM1 (R687H)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic
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 1049985	NM_000359.3(TGM1):c.2047C>T (p.Gln683Ter)	TGM1 (Q683*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2679170	NM_000359.3(TGM1):c.1985del (p.Gln662fs)	TGM1 (Q662fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
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 3240601	NM_000359.3(TGM1):c.1977del (p.Val660fs)	TGM1 (V660fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GPathogenic
Select item 2679176	NM_000359.3(TGM1):c.1928-1G>C	TGM1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 39534	NM_000359.3(TGM1):c.1923_1927+2del	TGM1	Deletion (splice donor variant)	Autosomal recessive congenital ichthyosis 1	GPathogenic
Select item 2679193	NM_000359.3(TGM1):c.1927+1G>A	TGM1	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 1	GPathogenic
Select item 1445403	NM_000359.3(TGM1):c.1877del (p.Gly626fs)	TGM1 (G626fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679174	NM_000359.3(TGM1):c.1712_1785del (p.Ala571fs)	TGM1 (A571fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 1075202	NM_000359.3(TGM1):c.1774C>T (p.Gln592Ter)	TGM1 (Q592*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 2679180	NM_000359.3(TGM1):c.1755_1762dup (p.Ala588fs)	TGM1 (A588fs)	Duplication (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)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic/Likely pathogenic
Select item 2679183	NM_000359.3(TGM1):c.1645+1G>A	TGM1	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 1	GPathogenic
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 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 1435036	NM_000359.3(TGM1):c.1552del (p.Val518fs)	TGM1 (V518fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic
Select item 2679187	NM_000359.3(TGM1):c.1515G>A (p.Trp505Ter)	TGM1 (W505*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2679175	NM_000359.3(TGM1):c.1472C>T (p.Thr491Met)	TGM1 (T491M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1068254	NM_000359.3(TGM1):c.1438A>T (p.Ile480Phe)	TGM1 (I480F)	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 2679184	NM_000359.3(TGM1):c.1402+1G>A	TGM1	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 1	GPathogenic
Select item 2679191	NM_000359.3(TGM1):c.1366C>T (p.Gln456Ter)	TGM1 (Q456*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 39535	NM_000359.3(TGM1):c.1331dup (p.Arg445fs)	TGM1 (R445fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 1 +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 2679188	NM_000359.3(TGM1):c.1194_1209dup (p.Ala404fs)	TGM1 (A404fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely 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 838484	NM_000359.3(TGM1):c.1166G>C (p.Arg389Pro)	TGM1 (R389P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic
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 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 3240600	NM_000359.3(TGM1):c.1143_1155del (p.Gly382fs)	TGM1 (G382fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely 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 2679172	NM_000359.3(TGM1):c.1145_1146delinsTGCT (p.Gly382fs)	TGM1 (G382fs)	Indel (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GPathogenic
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)	Autosomal recessive congenital ichthyosis 1 +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)	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 2124147	NM_000359.3(TGM1):c.999_1008del (p.Asp333fs)	TGM1 (D333fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 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)	Autosomal recessive congenital ichthyosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 2679185	NM_000359.3(TGM1):c.953del (p.Pro318fs)	TGM1 (P318fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2679178	NM_000359.3(TGM1):c.925_945delinsCGGG (p.Gly309fs)	TGM1 (G309fs)	Indel (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
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 243015	NM_000359.3(TGM1):c.910A>T (p.Ile304Phe)	TGM1 (I304F)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 2679189	NM_000359.3(TGM1):c.877-1G>A	TGM1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 1	GLikely 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 555662	NM_000359.3(TGM1):c.871G>A (p.Gly291Ser)	TGM1 (G291S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 633786	NM_000359.3(TGM1):c.856C>T (p.Arg286Trp)	TGM1 (R286W)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GLikely 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 312984	NM_000359.3(TGM1):c.791G>A (p.Arg264Gln)	TGM1 (R264Q)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +2 more	GConflicting classifications of pathogenicity
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 2679181	NM_000359.3(TGM1):c.757+1G>C	TGM1	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
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 2679171	NM_000359.3(TGM1):c.674G>C (p.Arg225Pro)	TGM1 (R225P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GLikely 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 552052	NM_000359.3(TGM1):c.635C>T (p.Ser212Phe)	TGM1 (S212F)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 1419049	NM_000359.3(TGM1):c.607C>T (p.Gln203Ter)	TGM1 (Q203*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 620502	NM_000359.3(TGM1):c.586C>T (p.Gln196Ter)	TGM1 (Q196*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1 +1 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 2679182	NM_000359.3(TGM1):c.578G>A (p.Trp193Ter)	TGM1 (W193*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic
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 2022097	NM_000359.3(TGM1):c.488del (p.Ile163fs)	TGM1 (I163fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3240598	NM_000359.3(TGM1):c.463del (p.Arg155fs)	TGM1 (R155fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 1187841	NM_000359.3(TGM1):c.450CCT[2] (p.Leu153del)	TGM1 (L153del)	Microsatellite (inframe_deletion)	not provided +1 more	GLikely pathogenic
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)	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 2679173	NM_000359.3(TGM1):c.425_426delinsAA (p.Arg142Gln)	TGM1 (R142Q)	Indel (missense variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
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 3240597	NM_000359.3(TGM1):c.412_415dup (p.Leu139fs)	TGM1 (L139fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 1458607	NM_000359.3(TGM1):c.408_411dup (p.Glu138fs)	TGM1 (E138fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GPathogenic
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 2112759	NM_000359.3(TGM1):c.398del (p.Glu133fs)	TGM1 (E133fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 39528	NM_000359.3(TGM1):c.376C>T (p.Arg126Cys)	TGM1 (R126C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 3240599	NM_000359.3(TGM1):c.370C>T (p.Gln124Ter)	TGM1 (Q124*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 1	GPathogenic
Select item 2679179	NM_000359.3(TGM1):c.344dup (p.Asp116fs)	TGM1 (D116fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GPathogenic

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