ClinVar for Gene (Select 7051) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362767	NM_000359.3(TGM1):c.673C>T (p.Arg225Cys)	TGM1 (R225C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 3342695	NM_000359.3(TGM1):c.1756C>T (p.Gln586Ter)	TGM1 (Q586*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3338936	NM_000359.3(TGM1):c.401A>T (p.Tyr134Phe)	TGM1 (Y134F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325743	NM_000359.3(TGM1):c.1502A>G (p.Asp501Gly)	TGM1 (D501G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325742	NM_000359.3(TGM1):c.1211C>T (p.Ala404Val)	TGM1 (A404V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325741	NM_000359.3(TGM1):c.2028C>G (p.Ser676Arg)	TGM1 (S676R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325740	NM_000359.3(TGM1):c.1210G>A (p.Ala404Thr)	TGM1 (A404T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325739	NM_000359.3(TGM1):c.251G>A (p.Gly84Asp)	TGM1 (G84D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251697	NM_000359.3(TGM1):c.1552G>T (p.Val518Leu)	TGM1 (V518L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251466	NM_000359.3(TGM1):c.1485T>G (p.Phe495Leu)	TGM1 (F495L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242080	NM_000359.3(TGM1):c.577T>C (p.Trp193Arg)	TGM1 (W193R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 3240604	NM_000359.3(TGM1):c.319+2T>C	TGM1	Single nucleotide variant (splice donor 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 3240602	NM_000359.3(TGM1):c.320-2A>C	TGM1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 1	GLikely 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 3240600	NM_000359.3(TGM1):c.1143_1155del (p.Gly382fs)	TGM1 (G382fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
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 3240598	NM_000359.3(TGM1):c.463del (p.Arg155fs)	TGM1 (R155fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 1	GLikely 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 3176710	NM_000359.3(TGM1):c.775G>A (p.Asp259Asn)	TGM1 (D259N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176709	NM_000359.3(TGM1):c.2093T>C (p.Leu698Pro)	TGM1 (L698P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176708	NM_000359.3(TGM1):c.202T>G (p.Ser68Ala)	TGM1 (S68A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176707	NM_000359.3(TGM1):c.1934G>A (p.Arg645His)	TGM1 (R645H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176706	NM_000359.3(TGM1):c.1714A>C (p.Asn572His)	TGM1 (N572H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176705	NM_000359.3(TGM1):c.161G>A (p.Arg54Gln)	TGM1 (R54Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176704	NM_000359.3(TGM1):c.136C>T (p.Arg46Cys)	TGM1 (R46C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176703	NM_000359.3(TGM1):c.1243A>G (p.Ile415Val)	TGM1 (I415V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176702	NM_000359.3(TGM1):c.1210G>T (p.Ala404Ser)	TGM1 (A404S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042424	NM_000359.3(TGM1):c.509-334C>T	TGM1	Single nucleotide variant (intron variant)	TGM1-related disorder	GLikely benign
Select item 3025480	NM_000359.3(TGM1):c.688G>A (p.Ala230Thr)	TGM1 (A230T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023259	NM_000359.3(TGM1):c.876+9C>A	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022410	NM_000359.3(TGM1):c.1402+16C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019316	NM_000359.3(TGM1):c.63C>A (p.Thr21=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018618	NM_000359.3(TGM1):c.1160-12G>C	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017651	NM_000359.3(TGM1):c.1403-13C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016498	NM_000359.3(TGM1):c.1299-13C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016166	NM_000359.3(TGM1):c.320-7C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013915	NM_000359.3(TGM1):c.319+7C>A	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013563	NM_000359.3(TGM1):c.1834C>T (p.Leu612=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013266	NM_000359.3(TGM1):c.1008A>G (p.Gly336=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013151	NM_000359.3(TGM1):c.757+14G>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010909	NM_000359.3(TGM1):c.1173G>A (p.Leu391=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008594	NM_000359.3(TGM1):c.1402+11C>G	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008283	NM_000359.3(TGM1):c.1073G>A (p.Ser358Asn)	TGM1 (S358N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3005753	NM_000359.3(TGM1):c.877-11C>A	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005658	NM_000359.3(TGM1):c.1131_1134dup (p.Val379fs)	TGM1 (V379fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3003046	NM_000359.3(TGM1):c.504C>T (p.Leu168=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000375	NM_000359.3(TGM1):c.509-17C>G	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999146	NM_000359.3(TGM1):c.1492-18C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997471	NM_000359.3(TGM1):c.319+20_319+22del	TGM1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2997080	NM_000359.3(TGM1):c.1402+12C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997021	NM_000359.3(TGM1):c.483T>C (p.Asp161=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996826	NM_000359.3(TGM1):c.320-12G>A	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995756	NM_000359.3(TGM1):c.1570_1596del (p.Gly524_Ile532del)	TGM1	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 2992734	NM_000359.3(TGM1):c.1402+11C>A	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992555	NM_000359.3(TGM1):c.391_408del (p.Thr131_Tyr136del)	TGM1	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 2991361	NM_000359.3(TGM1):c.757+14G>A	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988278	NM_000359.3(TGM1):c.543G>A (p.Val181=)	TGM1	Single nucleotide variant (synonymous 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 2985421	NM_000359.3(TGM1):c.1403-10C>A	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983590	NM_000359.3(TGM1):c.1492-14C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981086	NM_000359.3(TGM1):c.2089-4T>A	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978781	NM_000359.3(TGM1):c.2088+9A>G	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978768	NM_000359.3(TGM1):c.984+17C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974696	NM_000359.3(TGM1):c.2097A>G (p.Gly699=)	TGM1	Single nucleotide variant (synonymous 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 2973570	NM_000359.3(TGM1):c.1646-12C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972705	NM_000359.3(TGM1):c.281del (p.Gly94fs)	TGM1 (G94fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2967753	NM_000359.3(TGM1):c.1839C>T (p.His613=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967168	NM_000359.3(TGM1):c.1137C>G (p.Val379=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965976	NM_000359.3(TGM1):c.509-20T>C	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963868	NM_000359.3(TGM1):c.1160-19A>G	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963396	NM_000359.3(TGM1):c.1646-5C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962973	NM_000359.3(TGM1):c.381A>G (p.Arg127=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962207	NM_000359.3(TGM1):c.1492-20C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961901	NM_000359.3(TGM1):c.757+19G>C	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959954	NM_000359.3(TGM1):c.1908G>C (p.Val636=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958685	NM_000359.3(TGM1):c.2217C>G (p.Leu739=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920081	NM_000359.3(TGM1):c.1403-19G>C	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918283	NM_000359.3(TGM1):c.876+18A>G	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917901	NM_000359.3(TGM1):c.508+15G>A	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917756	NM_000359.3(TGM1):c.1299-19C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917675	NM_000359.3(TGM1):c.319+17C>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 2916649	NM_000359.3(TGM1):c.319+17C>G	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916372	NM_000359.3(TGM1):c.1403-17C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915302	NM_000359.3(TGM1):c.1160-22_1160-19dup	TGM1	Duplication (intron variant)	not provided	GLikely benign
Select item 2914902	NM_000359.3(TGM1):c.566del (p.Gly189fs)	TGM1 (G189fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2914416	NM_000359.3(TGM1):c.1491+12G>C	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913610	NM_000359.3(TGM1):c.1299-12A>G	TGM1	Single nucleotide variant (intron 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 2912843	NM_000359.3(TGM1):c.877-12C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909691	NM_000359.3(TGM1):c.1645+9C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908179	NM_000359.3(TGM1):c.2172C>G (p.Val724=)	TGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907974	NM_000359.3(TGM1):c.1927+14A>G	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907216	NM_000359.3(TGM1):c.2089-17G>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906666	NM_000359.3(TGM1):c.1928-20G>A	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906002	NM_000359.3(TGM1):c.319+19C>T	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905077	NM_000359.3(TGM1):c.1928-16T>C	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905023	NM_000359.3(TGM1):c.757+13G>A	TGM1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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