TGM1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 more	Copy number loss	See cases	GPathogenic
Select item 38918	NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys)	TGM1, TINF2 (E281K +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 3 +4 more	GConflicting classifications of pathogenicity
Select item 881031	NM_000359.3(TGM1):c.*164G>A	TGM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 881032	NM_000359.3(TGM1):c.*162C>A	TGM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 1	GLikely benign
Select item 1226115	NM_000359.3(TGM1):c.*96GGGGAGTCCAGGGCTCCCGGAG[1]	TGM1	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 312969	NM_000359.3(TGM1):c.*90T>C	TGM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 1342288	NM_000359.3(TGM1):c.*4C>T	TGM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 1	GBenign
Select item 991476	NM_000359.3(TGM1):c.*2C>T	TGM1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 2064600	NM_000359.3(TGM1):c.2448A>G (p.Gly816=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913408	NM_000359.3(TGM1):c.2445T>C (p.Gly815=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991477	NM_000359.3(TGM1):c.2441G>C (p.Arg814Pro)	TGM1 (R814P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
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 739838	NM_000359.3(TGM1):c.2439T>C (p.Ser813=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1153961	NM_000359.3(TGM1):c.2436A>G (p.Ala812=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710122	NM_000359.3(TGM1):c.2430T>C (p.Pro810=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2759573	NM_000359.3(TGM1):c.2409T>C (p.Ser803=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719753	NM_000359.3(TGM1):c.2405A>T (p.Asp802Val)	TGM1 (D802V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2644134	NM_000359.3(TGM1):c.2403T>A (p.Gly801=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1441822	NM_000359.3(TGM1):c.2401G>T (p.Gly801Cys)	TGM1 (G801C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2306871	NM_000359.3(TGM1):c.2398G>A (p.Gly800Arg)	TGM1 (G800R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 991478	NM_000359.3(TGM1):c.2394C>T (p.Asp798=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 991479	NM_000359.3(TGM1):c.2377G>A (p.Gly793Arg)	TGM1 (G793R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2330988	NM_000359.3(TGM1):c.2376T>A (p.Asp792Glu)	TGM1 (D792E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579660	NM_000359.3(TGM1):c.2350G>T (p.Val784Leu)	TGM1 (V784L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 1109048	NM_000359.3(TGM1):c.2346C>T (p.Ile782=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1124360	NM_000359.3(TGM1):c.2343C>T (p.Val781=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1641852	NM_000359.3(TGM1):c.2340T>C (p.Gly780=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743165	NM_000359.3(TGM1):c.2337C>T (p.His779=)	TGM1	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 1627538	NM_000359.3(TGM1):c.2331G>A (p.Gln777=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2246691	NM_000359.3(TGM1):c.2330A>C (p.Gln777Pro)	TGM1 (Q777P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1562172	NM_000359.3(TGM1):c.2319A>G (p.Pro773=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724557	NM_000359.3(TGM1):c.2316C>T (p.Ser772=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579539	NM_000359.3(TGM1):c.2316C>A (p.Ser772Arg)	TGM1 (S772R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1149969	NM_000359.3(TGM1):c.2304C>T (p.Ala768=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1915799	NM_000359.3(TGM1):c.2286C>T (p.Gly762=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1306187	NM_000359.3(TGM1):c.2279G>A (p.Arg760Gln)	TGM1 (R760Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2765526	NM_000359.3(TGM1):c.2265G>T (p.Ser755=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1106319	NM_000359.3(TGM1):c.2265G>A (p.Ser755=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 312970	NM_000359.3(TGM1):c.2264C>T (p.Ser755Leu)	TGM1 (S755L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +1 more	GBenign
Select item 1090954	NM_000359.3(TGM1):c.2262G>A (p.Gln754=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 952357	NM_000359.3(TGM1):c.2260del (p.Gln754fs)	TGM1 (Q754fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 736330	NM_000359.3(TGM1):c.2258G>A (p.Arg753His)	TGM1 (R753H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1096054	NM_000359.3(TGM1):c.2254C>T (p.Leu752=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 991480	NM_000359.3(TGM1):c.2243A>G (p.Glu748Gly)	TGM1 (E748G)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 2122437	NM_000359.3(TGM1):c.2235A>T (p.Gly745=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 882387	NM_000359.3(TGM1):c.2231T>A (p.Ile744Asn)	TGM1 (I744N)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 2825466	NM_000359.3(TGM1):c.2229C>T (p.Asp743=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1360806	NM_000359.3(TGM1):c.2226-2_2226-1dup	TGM1	Duplication (splice acceptor variant)	not provided	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 1155970	NM_000359.3(TGM1):c.2226-4A>C	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 739692	NM_000359.3(TGM1):c.2226-7C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1952860	NM_000359.3(TGM1):c.2226-10C>G	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901179	NM_000359.3(TGM1):c.2226-12C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786227	NM_000359.3(TGM1):c.2226-15T>G	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2740985	NM_000359.3(TGM1):c.2225+19C>G	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600908	NM_000359.3(TGM1):c.2225+19C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1954967	NM_000359.3(TGM1):c.2225+18C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862002	NM_000359.3(TGM1):c.2225+15T>C	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974294	NM_000359.3(TGM1):c.2225+14C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987798	NM_000359.3(TGM1):c.2225+12C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917543	NM_000359.3(TGM1):c.2225+11C>G	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1614574	NM_000359.3(TGM1):c.2225+10G>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 646967	NC_000014.8:g.(?_24723348)_(24725293_?)dup	TGM1	Duplication	not provided	GPathogenic
Select item 1126434	NM_000359.3(TGM1):c.2225+7C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2148541	NM_000359.3(TGM1):c.2222T>C (p.Val741Ala)	TGM1 (V741A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 745874	NM_000359.3(TGM1):c.2220C>T (p.Asn740=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2958685	NM_000359.3(TGM1):c.2217C>G (p.Leu739=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1632100	NM_000359.3(TGM1):c.2217C>T (p.Leu739=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097034	NM_000359.3(TGM1):c.2214C>A (p.Ile738=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1664544	NM_000359.3(TGM1):c.2214C>T (p.Ile738=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991481	NM_000359.3(TGM1):c.2185G>A (p.Glu729Lys)	TGM1 (E729K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1620869	NM_000359.3(TGM1):c.2184C>G (p.Leu728=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991482	NM_000359.3(TGM1):c.2184C>T (p.Leu728=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2602645	NM_000359.3(TGM1):c.2178C>G (p.Phe726Leu)	TGM1 (F726L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2159274	NM_000359.3(TGM1):c.2173G>A (p.Val725Ile)	TGM1 (V725I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2908179	NM_000359.3(TGM1):c.2172C>G (p.Val724=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1080002	NM_000359.3(TGM1):c.2172C>T (p.Val724=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1109013	NM_000359.3(TGM1):c.2160C>G (p.Thr720=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782135	NM_000359.3(TGM1):c.2160C>T (p.Thr720=)	TGM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1153645	NM_000359.3(TGM1):c.2157C>T (p.Val719=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1090083	NM_000359.3(TGM1):c.2155G>A (p.Val719Ile)	TGM1 (V719I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1568318	NM_000359.3(TGM1):c.2154C>T (p.Pro718=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2137572	NM_000359.3(TGM1):c.2149del (p.Leu717fs)	TGM1 (L717fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1537144	NM_000359.3(TGM1):c.2148C>A (p.Pro716=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1531167	NM_000359.3(TGM1):c.2148C>G (p.Pro716=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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