ClinVar for Gene (Select 1291) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148842	GRCh37/hg19 21q22.3(chr21:45726806-48093361)x1	POFUT2, PRMT2 +44 more	Copy number loss	not provided	GUncertain significance
Select item 3147678	NM_001848.3(COL6A1):c.979A>G (p.Ile327Val)	COL6A1 (I327V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147677	NM_001848.3(COL6A1):c.1069C>T (p.Pro357Ser)	COL6A1 (P357S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066098	NM_001848.3(COL6A1):c.1784del (p.Glu595fs)	COL6A1 (E595fs)	Deletion (frameshift variant)	Bethlem myopathy 1A	GLikely pathogenic
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062430	GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1	KRTAP10-7, KRTAP10-8 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062427	GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1	DNMT3L, SLX9 +55 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 3052748	NM_001848.3(COL6A1):c.1002+6T>G	COL6A1	Single nucleotide variant (intron variant)	COL6A1-related condition	GLikely benign
Select item 3051409	NM_001848.3(COL6A1):c.1336-145G>A	COL6A1	Single nucleotide variant (intron variant)	COL6A1-related condition	GLikely benign
Select item 3049065	NM_001848.3(COL6A1):c.859-20_859-19del	COL6A1	Deletion (intron variant)	COL6A1-related condition	GLikely benign
Select item 3048842	NM_001848.3(COL6A1):c.859-18_859-17insGA	COL6A1	Insertion (intron variant)	COL6A1-related condition	GLikely benign
Select item 3039892	NM_001848.3(COL6A1):c.2250+48G>A	COL6A1	Single nucleotide variant (intron variant)	COL6A1-related condition	GLikely benign
Select item 3023160	NM_001848.3(COL6A1):c.1461+10A>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3021368	NM_001848.3(COL6A1):c.559T>G (p.Phe187Val)	COL6A1 (F187V)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3021023	NM_001848.3(COL6A1):c.1777-8C>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3021005	NM_001848.3(COL6A1):c.589-8G>A	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3017538	NM_001848.3(COL6A1):c.2703C>T (p.Ala901=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3013439	NM_001848.3(COL6A1):c.2250+11C>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3013365	NM_001848.3(COL6A1):c.588+16C>G	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3008010	NM_001848.3(COL6A1):c.1555_1556delinsAG (p.Glu519Arg)	COL6A1 (E519R)	Indel (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3002882	NM_001848.3(COL6A1):c.57G>T (p.Ala19=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2998347	NM_001848.3(COL6A1):c.2487C>T (p.Asp829=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2994888	NM_001848.3(COL6A1):c.2640C>T (p.Gly880=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2994509	NM_001848.3(COL6A1):c.1776+7G>A	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2991019	NM_001848.3(COL6A1):c.429-15C>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2991017	NM_001848.3(COL6A1):c.3000G>A (p.Glu1000=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2988034	NM_001848.3(COL6A1):c.2847C>T (p.Gly949=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GBenign
Select item 2986317	NM_001848.3(COL6A1):c.2108C>T (p.Thr703Met)	COL6A1 (T703M)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GBenign
Select item 2982499	NM_001848.3(COL6A1):c.2407A>C (p.Lys803Gln)	COL6A1 (K803Q)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2981917	NM_001848.3(COL6A1):c.606C>T (p.Ile202=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2976181	NM_001848.3(COL6A1):c.903+12C>A	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2975938	NM_001848.3(COL6A1):c.718-20G>A	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2975368	NM_001848.3(COL6A1):c.1524+18C>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2971928	NM_001848.3(COL6A1):c.2251-11_2251-8del	COL6A1	Microsatellite (intron variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2967393	NM_001848.3(COL6A1):c.2434+8T>C	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2964943	NM_001848.3(COL6A1):c.903+12C>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2964036	NM_001848.3(COL6A1):c.1979C>A (p.Ala660Glu)	COL6A1 (A660E)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 2955976	NM_001848.3(COL6A1):c.1272+12A>G	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2920525	NM_001848.3(COL6A1):c.27C>G (p.Pro9=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GBenign
Select item 2920014	NM_001848.3(COL6A1):c.159G>A (p.Lys53=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2919048	NM_001848.3(COL6A1):c.2067-15C>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2915575	NM_001848.3(COL6A1):c.1868C>G (p.Ser623Ter)	COL6A1 (S623*)	Single nucleotide variant (nonsense)	Bethlem myopathy 1A	GPathogenic
Select item 2914244	NM_001848.3(COL6A1):c.1210G>A (p.Gly404Arg)	COL6A1 (G404R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2914151	NM_001848.3(COL6A1):c.245G>A (p.Arg82Gln)	COL6A1 (R82Q)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GBenign
Select item 2912216	NM_001848.3(COL6A1):c.1525-20C>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2911728	NM_001848.3(COL6A1):c.1814-6C>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2910472	NM_001848.3(COL6A1):c.859-2A>G	COL6A1	Single nucleotide variant (splice acceptor variant)	Bethlem myopathy 1A	GPathogenic
Select item 2910471	NM_001848.3(COL6A1):c.833G>T (p.Gly278Val)	COL6A1 (G278V)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GPathogenic
Select item 2906242	NM_001848.3(COL6A1):c.724A>G (p.Asn242Asp)	COL6A1 (N242D)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 2904950	NM_001848.3(COL6A1):c.135T>C (p.Ser45=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2903280	NM_001848.3(COL6A1):c.1837C>T (p.Pro613Ser)	COL6A1 (P613S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 2901613	NM_001848.3(COL6A1):c.1956+11G>A	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2900890	NM_001848.3(COL6A1):c.1957-8T>A	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2899311	NM_001848.3(COL6A1):c.2989G>T (p.Ala997Ser)	COL6A1 (A997S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 2898649	NM_001848.3(COL6A1):c.1462-12C>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2898031	NM_001848.3(COL6A1):c.2734G>A (p.Asp912Asn)	COL6A1 (D912N)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2897965	NM_001848.3(COL6A1):c.288G>A (p.Glu96=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2895999	NM_001848.3(COL6A1):c.2170G>A (p.Ala724Thr)	COL6A1 (A724T)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2895463	NM_001848.3(COL6A1):c.1336G>A (p.Gly446Ser)	COL6A1 (G446S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2893922	NM_001848.3(COL6A1):c.632G>A (p.Arg211His)	COL6A1 (R211H)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 2892368	NM_001848.3(COL6A1):c.2565G>C (p.Leu855=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2890672	NM_001848.3(COL6A1):c.718A>G (p.Lys240Glu)	COL6A1 (K240E)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2888582	NM_001848.3(COL6A1):c.1002+15A>C	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2888314	NM_001848.3(COL6A1):c.2840C>T (p.Ser947Leu)	COL6A1 (S947L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GBenign
Select item 2887538	NM_001848.3(COL6A1):c.61G>C (p.Asp21His)	COL6A1 (D21H)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2887419	NM_001848.3(COL6A1):c.2116G>T (p.Ala706Ser)	COL6A1 (A706S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 2884270	NM_001848.3(COL6A1):c.1117A>G (p.Lys373Glu)	COL6A1 (K373E)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2876698	NM_001848.3(COL6A1):c.2066+12A>C	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2875833	NM_001848.3(COL6A1):c.2731A>G (p.Asn911Asp)	COL6A1 (N911D)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GBenign
Select item 2863189	NM_001848.3(COL6A1):c.1991A>C (p.Gln664Pro)	COL6A1 (Q664P)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2862942	NM_001848.3(COL6A1):c.717+9C>G	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2862299	NM_001848.3(COL6A1):c.1951G>T (p.Val651Phe)	COL6A1 (V651F)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2860400	NM_001848.3(COL6A1):c.957+1G>C	COL6A1	Single nucleotide variant (splice donor variant)	Bethlem myopathy 1A	GPathogenic
Select item 2859058	NM_001848.3(COL6A1):c.1183-18A>C	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2855960	NM_001848.3(COL6A1):c.883_903+27delinsCAGGACCTCGGACCTGAGG	COL6A1	Indel (splice donor variant)	Bethlem myopathy 1A	GPathogenic
Select item 2853894	NM_001848.3(COL6A1):c.1640G>A (p.Gly547Glu)	COL6A1 (G547E)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2853010	NM_001848.3(COL6A1):c.305G>T (p.Gly102Val)	COL6A1 (G102V)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 2851273	NM_001848.3(COL6A1):c.903+20T>G	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2846370	NM_001848.3(COL6A1):c.957+10G>A	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2843933	NM_001848.3(COL6A1):c.589G>C (p.Glu197Gln)	COL6A1 (E197Q)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2841285	NM_001848.3(COL6A1):c.1755C>T (p.His585=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2835427	NM_001848.3(COL6A1):c.1816T>A (p.Cys606Ser)	COL6A1 (C606S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2832119	NM_001848.3(COL6A1):c.268G>A (p.Ala90Thr)	COL6A1 (A90T)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 2830663	NM_001848.3(COL6A1):c.1485T>C (p.Pro495=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2824316	NM_001848.3(COL6A1):c.2545A>G (p.Lys849Glu)	COL6A1 (K849E)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2823564	NM_001848.3(COL6A1):c.928_930+23del	COL6A1	Deletion (splice donor variant)	Bethlem myopathy 1A	GLikely pathogenic
Select item 2818228	NM_001848.3(COL6A1):c.477G>T (p.Gly159=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2817419	NM_001848.3(COL6A1):c.1721G>C (p.Arg574Pro)	COL6A1 (R574P)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 2817145	NM_001848.3(COL6A1):c.356C>A (p.Ala119Glu)	COL6A1 (A119E)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2816417	NM_001848.3(COL6A1):c.1003-4C>A	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2815469	NM_001848.3(COL6A1):c.997G>T (p.Val333Leu)	COL6A1 (V333L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2813683	NM_001848.3(COL6A1):c.903+2_903+10del	COL6A1	Deletion (splice donor variant)	Bethlem myopathy 1A	GPathogenic
Select item 2809486	NM_001848.3(COL6A1):c.1675-5T>G	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2807684	NM_001848.3(COL6A1):c.2121G>T (p.Leu707=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign

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