ClinVar for Gene (Select 124583) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235171	NM_001159773.2(CANT1):c.1186G>A (p.Glu396Lys)	CANT1 (E396K)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 3136979	NM_001159773.2(CANT1):c.616G>T (p.Gly206Cys)	CANT1 (G206C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136978	NM_001159773.2(CANT1):c.607G>A (p.Asp203Asn)	CANT1 (D203N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136977	NM_001159773.2(CANT1):c.380G>A (p.Ser127Asn)	CANT1 (S127N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136976	NM_001159773.2(CANT1):c.283C>G (p.Pro95Ala)	CANT1 (P95A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3136974	NM_001159773.2(CANT1):c.1009G>T (p.Ala337Ser)	CANT1 (A337S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068315	NM_001159773.2(CANT1):c.836G>A (p.Gly279Asp)	CANT1 (G279D)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GLikely pathogenic
Select item 3068314	NM_001159773.2(CANT1):c.1186G>C (p.Glu396Gln)	CANT1 (E396Q)	Single nucleotide variant (missense variant)	Desbuquois dysplasia 1	GUncertain significance
Select item 3023249	NM_001159773.2(CANT1):c.836-5C>T	CANT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022630	NM_001159773.2(CANT1):c.1164C>G (p.Thr388=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022006	NM_001159773.2(CANT1):c.632-17A>G	CANT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021372	NM_001159773.2(CANT1):c.249C>T (p.Pro83=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021116	NM_001159773.2(CANT1):c.632-12C>T	CANT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020495	NM_001159773.2(CANT1):c.666G>A (p.Glu222=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019036	NM_001159773.2(CANT1):c.258G>A (p.Trp86Ter)	CANT1 (W86*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3015492	NM_001159773.2(CANT1):c.384C>T (p.Tyr128=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013371	NM_001159773.2(CANT1):c.632-80_632-15dup	CANT1	Duplication (intron variant)	not provided	GLikely benign
Select item 3013369	NM_001159773.2(CANT1):c.836-5C>G	CANT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013338	NM_001159773.2(CANT1):c.112dup (p.Arg38fs)	CANT1 (R38fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3013337	NM_001159773.2(CANT1):c.615C>T (p.Asp205=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010689	NM_001159773.2(CANT1):c.961C>T (p.Leu321=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002894	NM_001159773.2(CANT1):c.681C>T (p.Gly227=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001317	NM_001159773.2(CANT1):c.632-16C>A	CANT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001313	NM_001159773.2(CANT1):c.1185C>T (p.Tyr395=)	CANT1	Single nucleotide variant (synonymous variant)	CANT1-related disorder +1 more	GLikely benign
Select item 2999622	NM_001159773.2(CANT1):c.153G>A (p.Val51=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998049	NM_001159773.2(CANT1):c.1002C>T (p.His334=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995372	NM_001159773.2(CANT1):c.72C>A (p.Gly24=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993562	NM_001159773.2(CANT1):c.595del (p.Trp198_Val199insTer)	CANT1	Deletion (nonsense)	not provided	GPathogenic
Select item 2991410	NM_001159773.2(CANT1):c.87G>T (p.Ala29=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990739	NM_001159773.2(CANT1):c.835+10G>A	CANT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990557	NM_001159773.2(CANT1):c.711G>C (p.Thr237=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990164	NM_001159773.2(CANT1):c.102C>T (p.Ala34=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986080	NM_001159773.2(CANT1):c.960G>A (p.Leu320=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983312	NM_001159773.2(CANT1):c.1089C>T (p.Ser363=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981603	NM_001159773.2(CANT1):c.642C>T (p.Ala214=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981494	NM_001159773.2(CANT1):c.897G>A (p.Pro299=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981450	NM_001159773.2(CANT1):c.912G>A (p.Gln304=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980361	NM_001159773.2(CANT1):c.835+9C>T	CANT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980332	NM_001159773.2(CANT1):c.492C>T (p.Gly164=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977500	NM_001159773.2(CANT1):c.918C>T (p.Arg306=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976043	NM_001159773.2(CANT1):c.1131C>T (p.Phe377=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974564	NM_001159773.2(CANT1):c.831G>A (p.Pro277=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973080	NM_001159773.2(CANT1):c.108C>T (p.Asp36=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972201	NM_001159773.2(CANT1):c.1074T>C (p.Ile358=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970729	NM_001159773.2(CANT1):c.139C>T (p.Leu47=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970561	NM_001159773.2(CANT1):c.1158G>C (p.Pro386=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970526	NM_001159773.2(CANT1):c.1035G>A (p.Ser345=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964824	NM_001159773.2(CANT1):c.237C>T (p.Leu79=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964494	NM_001159773.2(CANT1):c.1101C>T (p.Ser367=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963118	NM_001159773.2(CANT1):c.432C>G (p.Ala144=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962425	NM_001159773.2(CANT1):c.835+12C>G	CANT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962305	NM_001159773.2(CANT1):c.537C>T (p.Ser179=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957318	NM_001159773.2(CANT1):c.810G>C (p.Arg270=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956208	NM_001159773.2(CANT1):c.1158G>A (p.Pro386=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915778	NM_001159773.2(CANT1):c.144G>A (p.Thr48=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908792	NM_001159773.2(CANT1):c.429G>A (p.Val143=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907664	NM_001159773.2(CANT1):c.612C>T (p.Gly204=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903264	NM_001159773.2(CANT1):c.933C>T (p.Asp311=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901760	NM_001159773.2(CANT1):c.330C>T (p.Ile110=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897445	NM_001159773.2(CANT1):c.15G>C (p.Leu5=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892775	NM_001159773.2(CANT1):c.696G>A (p.Glu232=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891804	NM_001159773.2(CANT1):c.632-5del	CANT1	Deletion (intron variant)	not provided	GLikely benign
Select item 2887549	NM_001159773.2(CANT1):c.316C>T (p.Arg106Ter)	CANT1 (R106*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2887175	NM_001159773.2(CANT1):c.990C>T (p.Ile330=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880451	NM_001159773.2(CANT1):c.836-18C>T	CANT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880303	NM_001159773.2(CANT1):c.825C>T (p.Ile275=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877894	NM_001159773.2(CANT1):c.714T>G (p.Gly238=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877632	NM_001159773.2(CANT1):c.1140C>T (p.Asp380=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873532	NM_001159773.2(CANT1):c.111C>T (p.Pro37=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873118	NM_001159773.2(CANT1):c.835+17C>T	CANT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873045	NM_001159773.2(CANT1):c.891C>T (p.Phe297=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871969	NM_001159773.2(CANT1):c.399C>T (p.Tyr133=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870683	NM_001159773.2(CANT1):c.836-14C>G	CANT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858771	NM_001159773.2(CANT1):c.103del (p.Ala35fs)	CANT1 (A35fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2857272	NM_001159773.2(CANT1):c.631+13T>C	CANT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856400	NM_001159773.2(CANT1):c.835+16C>T	CANT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855391	NM_001159773.2(CANT1):c.972C>T (p.Ser324=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855007	NM_001159773.2(CANT1):c.792C>T (p.Ser264=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854970	NM_001159773.2(CANT1):c.750G>C (p.Val250=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854905	NM_001159773.2(CANT1):c.549del (p.Thr184fs)	CANT1 (T184fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2854847	NM_001159773.2(CANT1):c.780G>A (p.Glu260=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851624	NM_001159773.2(CANT1):c.836-12C>A	CANT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2850372	NM_001159773.2(CANT1):c.631+10C>T	CANT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844942	NM_001159773.2(CANT1):c.876G>A (p.Leu292=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841703	NM_001159773.2(CANT1):c.798C>A (p.Tyr266Ter)	CANT1 (Y266*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2839484	NM_001159773.2(CANT1):c.632-12_632-11del	CANT1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2838791	NM_001159773.2(CANT1):c.188del (p.Arg63fs)	CANT1 (R63fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2838628	NM_001159773.2(CANT1):c.631+18T>C	CANT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837658	NM_001159773.2(CANT1):c.915G>A (p.Glu305=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832330	NM_001159773.2(CANT1):c.126C>T (p.Arg42=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832182	NM_001159773.2(CANT1):c.117C>T (p.Phe39=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830969	NM_001159773.2(CANT1):c.981C>T (p.Phe327=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826587	NM_001159773.2(CANT1):c.835+11C>A	CANT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824901	NM_001159773.2(CANT1):c.1205A>G (p.Ter402=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821705	NM_001159773.2(CANT1):c.51C>T (p.Ser17=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821536	NM_001159773.2(CANT1):c.33G>A (p.Trp11Ter)	CANT1 (W11*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2821035	NM_001159773.2(CANT1):c.906C>T (p.Ala302=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820692	NM_001159773.2(CANT1):c.648G>A (p.Trp216Ter)	CANT1 (W216*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2817585	NM_001159773.2(CANT1):c.836-4C>T	CANT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812924	NM_001159773.2(CANT1):c.858C>T (p.Ala286=)	CANT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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