11947[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 153813	GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3	NAT14, NLRP11 +124 more	Copy number gain	See cases	GUncertain significance
Select item 648531	NC_000019.9:g.(?_55644273)_(55768277_?)dup	DNAAF3, DNAAF3-AS1 +18 more	Duplication	Nemaline myopathy 5 +1 more	GUncertain significance
Select item 651255	NC_000019.10:g.(?_55140863)_(55151937_?)del	LOC130065089, TNNI3 +1 more	Deletion	Nemaline myopathy 5	GPathogenic
Select item 31865	NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly)	TNNI3, TNNT1 (E12G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GBenign/Likely benign
Select item 130603	NM_003283.6(TNNT1):c.33-8G>A	TNNI3, TNNT1	Single nucleotide variant (intron variant)	not provided +7 more	GBenign/Likely benign
Select item 31855	NM_003283.6(TNNT1):c.-20A>G	TNNI3, TNNT1	Single nucleotide variant (5 prime UTR variant)	Hypertrophic cardiomyopathy +7 more	GBenign/Likely benign
Select item 1256927	NC_000019.10:g.55151563T>G	TNNI3	Single nucleotide variant	not provided	GBenign
Select item 1231873	NC_000019.10:g.55151632C>A	TNNI3	Single nucleotide variant	not provided	GBenign
Select item 1199784	NC_000019.10:g.55151712T>C	TNNI3	Single nucleotide variant	not provided	GLikely benign
Select item 1209416	NC_000019.10:g.55151728G>T	TNNI3	Single nucleotide variant	not provided	GLikely benign
Select item 893714	NM_000363.5(TNNI3):c.*44A>G	TNNI3	Single nucleotide variant (3 prime UTR variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +3 more	GUncertain significance
Select item 188677	NM_000363.5(TNNI3):c.*35C>T	TNNI3	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 583543	NC_000019.10:g.(?_55151814)_(55154850_?)del	TNNI3	Deletion	Hypertrophic cardiomyopathy	GUncertain significance
Select item 454299	Single allele	TNNI3	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1290283	NM_000363.5(TNNI3):c.*16G>A	TNNI3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 629455	NM_000363.5(TNNI3):c.*3C>T	TNNI3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3072237	NM_000363.5(TNNI3):c.632G>C (p.Ter211Ser)	TNNI3	Single nucleotide variant (stop lost)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 181596	NM_000363.5(TNNI3):c.632G>T (p.Ter211Leu)	TNNI3	Single nucleotide variant (stop lost)	not provided +2 more	GUncertain significance
Select item 1752692	NM_000363.5(TNNI3):c.629G>A (p.Ser210Asn)	TNNI3 (S210N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2859312	NM_000363.5(TNNI3):c.628A>G (p.Ser210Gly)	TNNI3 (S210G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 545499	NM_000363.5(TNNI3):c.627G>C (p.Glu209Asp)	TNNI3 (E209D)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 1	GUncertain significance
Select item 181595	NM_000363.5(TNNI3):c.626A>C (p.Glu209Ala)	TNNI3 (E209A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 636992	NM_000363.5(TNNI3):c.624dup (p.Glu209Ter)	TNNI3 (E209*)	Duplication (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 177666	NM_000363.5(TNNI3):c.625G>A (p.Glu209Lys)	TNNI3 (E209K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 229335	NM_000363.5(TNNI3):c.624T>G (p.Phe208Leu)	TNNI3 (F208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 229334	NM_000363.5(TNNI3):c.622T>A (p.Phe208Ile)	TNNI3 (F208I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 953466	NM_000363.5(TNNI3):c.621G>C (p.Lys207Asn)	TNNI3 (K207N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 945741	NM_000363.5(TNNI3):c.620A>G (p.Lys207Arg)	TNNI3 (K207R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 671765	NM_000363.5(TNNI3):c.618A>G (p.Lys206=)	TNNI3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 181594	NM_000363.5(TNNI3):c.617A>T (p.Lys206Ile)	TNNI3 (K206I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 181593	NM_000363.5(TNNI3):c.616A>G (p.Lys206Glu)	TNNI3 (K206E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 12420	NM_000363.5(TNNI3):c.616A>C (p.Lys206Gln)	TNNI3 (K206Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 7	GPathogenic
Select item 2840070	NM_000363.5(TNNI3):c.615G>T (p.Lys205Asn)	TNNI3 (K205N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 520294	NM_000363.5(TNNI3):c.614A>C (p.Lys205Thr)	TNNI3 (K205T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 180077	NM_000363.5(TNNI3):c.613A>C (p.Lys205Gln)	TNNI3 (K205Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 918372	NM_000363.5(TNNI3):c.612C>G (p.Arg204=)	TNNI3	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2573400	NM_000363.5(TNNI3):c.611G>T (p.Arg204Leu)	TNNI3 (R204L)	Single nucleotide variant (missense variant)	Cardiomyopathy	GLikely pathogenic
Select item 177679	NM_000363.5(TNNI3):c.611G>A (p.Arg204His)	TNNI3 (R204H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 454412	NM_000363.5(TNNI3):c.610C>A (p.Arg204Ser)	TNNI3 (R204S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 177631	NM_000363.5(TNNI3):c.610C>T (p.Arg204Cys)	TNNI3 (R204C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 137688	NM_000363.5(TNNI3):c.609C>T (p.Gly203=)	TNNI3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2107194	NM_000363.5(TNNI3):c.608G>A (p.Gly203Asp)	TNNI3 (G203D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 12432	NM_000363.5(TNNI3):c.607G>A (p.Gly203Ser)	TNNI3 (G203S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 7	GPathogenic
Select item 695198	NM_000363.5(TNNI3):c.606G>A (p.Glu202=)	TNNI3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 1751308	NM_000363.5(TNNI3):c.605A>G (p.Glu202Gly)	TNNI3 (E202G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1677817	NM_000363.5(TNNI3):c.604G>C (p.Glu202Gln)	TNNI3 (E202Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1977541	NM_000363.5(TNNI3):c.603G>C (p.Met201Ile)	TNNI3 (M201I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 177863	NM_000363.5(TNNI3):c.602T>C (p.Met201Thr)	TNNI3 (M201T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 410990	NM_000363.5(TNNI3):c.599G>T (p.Gly200Val)	TNNI3 (G200V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 237692	NM_000363.5(TNNI3):c.599G>A (p.Gly200Glu)	TNNI3 (G200E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2016713	NM_000363.5(TNNI3):c.597del (p.Ser199fs)	TNNI3 (S199fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 181603	NM_000363.5(TNNI3):c.596G>A (p.Ser199Asn)	TNNI3 (S199N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1018432	NM_000363.5(TNNI3):c.595A>T (p.Ser199Cys)	TNNI3 (S199C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 682159	NM_000363.5(TNNI3):c.594G>C (p.Leu198=)	TNNI3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 177694	NM_000363.5(TNNI3):c.592C>G (p.Leu198Val)	TNNI3 (L198V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GLikely pathogenic
Select item 3071624	NM_000363.5(TNNI3):c.588T>C (p.Asp196=)	TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1052513	NM_000363.5(TNNI3):c.587A>G (p.Asp196Gly)	TNNI3 (D196G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2169619	NM_000363.5(TNNI3):c.586G>C (p.Asp196His)	TNNI3 (D196H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 179492	NM_000363.5(TNNI3):c.586G>T (p.Asp196Tyr)	TNNI3 (D196Y)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 12422	NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)	TNNI3 (D196N)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GPathogenic/Likely pathogenic
Select item 918687	NM_000363.5(TNNI3):c.585C>T (p.Ile195=)	TNNI3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 862754	NM_000363.5(TNNI3):c.585C>G (p.Ile195Met)	TNNI3 (I195M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 229333	NM_000363.5(TNNI3):c.583A>C (p.Ile195Leu)	TNNI3 (I195L)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 181602	NM_000363.5(TNNI3):c.582C>G (p.Asn194Lys)	TNNI3 (N194K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 519178	NM_000363.5(TNNI3):c.581A>C (p.Asn194Thr)	TNNI3 (N194T)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 181592	NM_000363.5(TNNI3):c.581A>G (p.Asn194Ser)	TNNI3 (N194S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1497094	NM_000363.5(TNNI3):c.580A>G (p.Asn194Asp)	TNNI3 (N194D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 181591	NM_000363.5(TNNI3):c.579G>T (p.Lys193Asn)	TNNI3 (K193N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 43396	NM_000363.5(TNNI3):c.579G>C (p.Lys193Asn)	TNNI3 (K193N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2774614	NM_000363.5(TNNI3):c.578A>G (p.Lys193Arg)	TNNI3 (K193R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 181590	NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu)	TNNI3 (K193E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 179536	NM_000363.5(TNNI3):c.575G>C (p.Arg192Pro)	TNNI3 (R192P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 177831	NM_000363.5(TNNI3):c.575G>T (p.Arg192Leu)	TNNI3 (R192L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 12424	NM_000363.5(TNNI3):c.575G>A (p.Arg192His)	TNNI3 (R192H)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME +6 more	GPathogenic
Select item 165510	NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys)	TNNI3 (R192C)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 1 +6 more	GPathogenic/Likely pathogenic
Select item 1616902	NM_000363.5(TNNI3):c.570C>T (p.Asp190=)	TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 430246	NM_000363.5(TNNI3):c.570C>G (p.Asp190Glu)	TNNI3 (D190E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1004884	NM_000363.5(TNNI3):c.563_569del (p.Val188fs)	TNNI3 (V188fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 12423	NM_000363.5(TNNI3):c.569A>G (p.Asp190Gly)	TNNI3 (D190G)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 1 +1 more	GPathogenic
Select item 165511	NM_000363.5(TNNI3):c.568G>T (p.Asp190Tyr)	TNNI3 (D190Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 629559	NM_000363.5(TNNI3):c.567A>G (p.Gly189=)	TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1748957	NM_000363.5(TNNI3):c.566G>C (p.Gly189Ala)	TNNI3 (G189A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 155841	NM_000363.5(TNNI3):c.566G>A (p.Gly189Glu)	TNNI3 (G189E)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 181589	NM_000363.5(TNNI3):c.562G>T (p.Val188Leu)	TNNI3 (V188L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 36883	NM_000363.5(TNNI3):c.562G>A (p.Val188Met)	TNNI3 (V188M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 454411	NM_000363.5(TNNI3):c.561G>T (p.Glu187Asp)	TNNI3 (E187D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1025681	NM_000363.5(TNNI3):c.559_560delinsAG (p.Glu187Arg)	TNNI3 (E187R)	Indel (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 179710	NM_000363.5(TNNI3):c.559G>A (p.Glu187Lys)	TNNI3 (E187K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 43395	NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln)	TNNI3 (R186Q)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +5 more	GPathogenic/Likely pathogenic

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