3771[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 293685	NM_001002294.3(FMO3):c.-25G>A	FMO3	Single nucleotide variant (5 prime UTR variant)	Trimethylaminuria	GUncertain significance
Select item 2506224	NM_001002294.3(FMO3):c.-6-1G>C	FMO3	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 2898902	NM_001002294.3(FMO3):c.1A>G (p.Met1Val)	FMO3 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 3013899	NM_001002294.3(FMO3):c.10A>T (p.Lys4Ter)	FMO3 (K4*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2696531	NM_001002294.3(FMO3):c.16del (p.Ala6fs)	FMO3 (A6fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2766791	NM_001002294.3(FMO3):c.22_29del (p.Ile8fs)	FMO3 (I8fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2709014	NM_001002294.3(FMO3):c.21C>T (p.Ile7=)	FMO3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2481182	NM_001002294.3(FMO3):c.29C>T (p.Ala10Val)	FMO3 (A10V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3279353	NM_001002294.3(FMO3):c.41G>A (p.Gly14Asp)	FMO3 (G14D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2848765	NM_001002294.3(FMO3):c.42C>T (p.Gly14=)	FMO3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3029305	NM_001002294.3(FMO3):c.50C>T (p.Ser17Phe)	FMO3 (S17F)	Single nucleotide variant (missense variant +1 more)	FMO3-related disorder	GUncertain significance
Select item 2849607	NM_001002294.3(FMO3):c.81G>A (p.Glu27=)	FMO3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 16316	NM_001002294.3(FMO3):c.94G>A (p.Glu32Lys)	FMO3 (E32K)	Single nucleotide variant (missense variant +1 more)	Trimethylaminuria	GPathogenic
Select item 3095895	NM_001002294.3(FMO3):c.98A>G (p.Lys33Arg)	FMO3 (K33R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2857220	NM_001002294.3(FMO3):c.102dup (p.Asn35fs)	FMO3 (N35fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 3366476	NM_001002294.3(FMO3):c.112G>T (p.Gly38Trp)	FMO3 (G38W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279352	NM_001002294.3(FMO3):c.118C>G (p.Leu40Val)	FMO3 (L40V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 260067	NM_001002294.3(FMO3):c.132+1G>T	FMO3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2820249	NM_001002294.3(FMO3):c.132+9C>G	FMO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703259	NM_001002294.3(FMO3):c.132+11T>C	FMO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840902	NM_001002294.3(FMO3):c.132+12G>A	FMO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 874915	NM_001002294.3(FMO3):c.132+13T>C	FMO3	Single nucleotide variant (intron variant)	Trimethylaminuria	GUncertain significance
Select item 2744392	NM_001002294.3(FMO3):c.132+15G>C	FMO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3036104	NM_001002294.3(FMO3):c.133-2658A>T	FMO3	Single nucleotide variant (5 prime UTR variant +1 more)	FMO3-related disorder	GLikely benign
Select item 2822685	NM_001002294.3(FMO3):c.133-2A>G	FMO3	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 2662180	NM_001002294.3(FMO3):c.151A>G (p.Arg51Gly)	FMO3 (R31G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 16307	NM_001002294.3(FMO3):c.154G>A (p.Ala52Thr)	FMO3 (A52T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2744460	NM_001002294.3(FMO3):c.170C>G (p.Ser57Ter)	FMO3 (S37* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 225365	NM_001002294.3(FMO3):c.172G>A (p.Val58Ile)	FMO3 (V58I +1 more)	Single nucleotide variant (missense variant +1 more)	Trimethylaminuria +2 more	GConflicting classifications of pathogenicity
Select item 2840209	NM_001002294.3(FMO3):c.174_175insA (p.Phe59fs)	FMO3 (F59fs +1 more)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 16313	NM_001002294.3(FMO3):c.182A>G (p.Asn61Ser)	FMO3 (N61S +1 more)	Single nucleotide variant (missense variant +1 more)	Trimethylaminuria	GLikely pathogenic
Select item 16317	NM_001002294.3(FMO3):c.192del (p.Glu65fs)	FMO3 (E45fs +1 more)	Deletion (frameshift variant +1 more)	Trimethylaminuria	GPathogenic
Select item 16306	NM_001002294.3(FMO3):c.198G>T (p.Met66Ile)	FMO3 (M66I +1 more)	Single nucleotide variant (missense variant +1 more)	Trimethylaminuria	GLikely pathogenic
Select item 2734029	NM_001002294.3(FMO3):c.209C>T (p.Pro70Leu)	FMO3 (P70L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 293686	NM_001002294.3(FMO3):c.225C>T (p.Pro75=)	FMO3	Single nucleotide variant (synonymous variant +1 more)	Trimethylaminuria +1 more	GConflicting classifications of pathogenicity
Select item 2828328	NM_001002294.3(FMO3):c.237del (p.Asn80fs)	FMO3 (N80fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 293687	NM_001002294.3(FMO3):c.245T>C (p.Met82Thr)	FMO3 (M82T +1 more)	Single nucleotide variant (missense variant +1 more)	Trimethylaminuria	GUncertain significance
Select item 293688	NM_001002294.3(FMO3):c.260T>A (p.Ile87Asn)	FMO3 (I87N +1 more)	Single nucleotide variant (missense variant +1 more)	Trimethylaminuria	GUncertain significance
Select item 3095892	NM_001002294.3(FMO3):c.305A>G (p.Lys102Arg)	FMO3 (K102R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2837854	NM_001002294.3(FMO3):c.321+1G>T	FMO3	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 260070	NM_001002294.3(FMO3):c.321+31C>A	FMO3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 260071	NM_001002294.3(FMO3):c.321+44_321+46del	FMO3	Microsatellite (intron variant)	not specified	GLikely benign
Select item 2890945	NM_001002294.3(FMO3):c.322-8T>C	FMO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703563	NM_001002294.3(FMO3):c.322-6T>C	FMO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 875848	NM_001002294.3(FMO3):c.329T>C (p.Val110Ala)	FMO3 (V110A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875849	NM_001002294.3(FMO3):c.341A>G (p.Asn114Ser)	FMO3 (N114S +2 more)	Single nucleotide variant (missense variant)	Trimethylaminuria +2 more	GConflicting classifications of pathogenicity
Select item 2706869	NM_001002294.3(FMO3):c.358_368del (p.Ala120fs)	FMO3, LOC126805916 (A57fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2889342	NM_001002294.3(FMO3):c.360A>C (p.Ala120=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706870	NM_001002294.3(FMO3):c.369C>T (p.Gly123=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 562008	NM_001002294.3(FMO3):c.370C>T (p.Gln124Ter)	FMO3, LOC126805916 (Q124* +2 more)	Single nucleotide variant (nonsense)	Trimethylaminuria +1 more	GPathogenic/Likely pathogenic
Select item 2914874	NM_001002294.3(FMO3):c.391del (p.Arg131fs)	FMO3, LOC126805916 (R131fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2883871	NM_001002294.3(FMO3):c.393G>A (p.Arg131=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 260072	NM_001002294.3(FMO3):c.394G>C (p.Asp132His)	FMO3, LOC126805916 (D132H +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 2993513	NM_001002294.3(FMO3):c.406G>T (p.Glu136Ter)	FMO3, LOC126805916 (E73* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2832491	NM_001002294.3(FMO3):c.411G>A (p.Ser137=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3366396	NM_001002294.3(FMO3):c.419T>C (p.Phe140Ser)	FMO3, LOC126805916 (F120S +2 more)	Single nucleotide variant (missense variant)	Trimethylaminuria	GLikely pathogenic
Select item 875850	NM_001002294.3(FMO3):c.428T>A (p.Val143Glu)	FMO3, LOC126805916 (V123E +2 more)	Single nucleotide variant (missense variant)	Trimethylaminuria	GUncertain significance
Select item 293689	NM_001002294.3(FMO3):c.430A>G (p.Met144Val)	FMO3, LOC126805916 (M144V +2 more)	Single nucleotide variant (missense variant)	Trimethylaminuria	GUncertain significance
Select item 3279354	NM_001002294.3(FMO3):c.432G>T (p.Met144Ile)	FMO3, LOC126805916 (M144I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 260073	NM_001002294.3(FMO3):c.441C>T (p.Ser147=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 562009	NM_001002294.3(FMO3):c.442G>A (p.Gly148Arg)	FMO3, LOC126805916 (G148R +2 more)	Single nucleotide variant (missense variant)	Trimethylaminuria	GLikely pathogenic
Select item 16310	NM_001002294.3(FMO3):c.442G>T (p.Gly148Ter)	FMO3, LOC126805916 (G148* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2730429	NM_001002294.3(FMO3):c.444A>T (p.Gly148=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 16308	NM_001002294.3(FMO3):c.458C>T (p.Pro153Leu)	FMO3, LOC126805916 (P153L +2 more)	Single nucleotide variant (missense variant)	Trimethylaminuria +1 more	GConflicting classifications of pathogenicity
Select item 2754796	NM_001002294.3(FMO3):c.468A>C (p.Pro156=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 217371	NM_006894.4(FMO3):c.[472G>A;560T>C]	LOC126805916, FMO3 (V187A +2 more)	Single nucleotide variant (missense variant)	Trimethylaminuria	GPathogenic
Select item 38394	NM_001002294.3(FMO3):c.472G>A (p.Glu158Lys)	LOC126805916, FMO3	Single nucleotide variant (missense variant)	Trimethylaminuria +3 more	GBenign
Select item 16318	NM_006894.4(FMO3):c.[472G>A;923A>G]	LOC126805916, FMO3 (E308G +2 more)	Single nucleotide variant (missense variant)	Trimethylaminuria +1 more	GPathogenic/Likely pathogenic
Select item 2841690	NM_001002294.3(FMO3):c.484+1G>A	FMO3, LOC126805916	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2751924	NM_001002294.3(FMO3):c.484+2T>G	FMO3, LOC126805916	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 876843	NM_001002294.3(FMO3):c.484+13T>C	FMO3, LOC126805916	Single nucleotide variant (intron variant)	Trimethylaminuria	GUncertain significance
Select item 260074	NM_001002294.3(FMO3):c.485-22G>A	FMO3, LOC126805916	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2816242	NM_001002294.3(FMO3):c.485-19T>C	FMO3, LOC126805916	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840296	NM_001002294.3(FMO3):c.488_489del (p.Leu163fs)	FMO3, LOC126805916 (L100fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2263197	NM_001002294.3(FMO3):c.510C>G (p.Cys170Trp)	FMO3, LOC126805916 (C107W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2699670	NM_001002294.3(FMO3):c.519C>T (p.Ser173=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702005	NM_001002294.3(FMO3):c.530_531dup (p.Glu178fs)	FMO3, LOC126805916 (E115fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2840121	NM_001002294.3(FMO3):c.537A>G (p.Pro179=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 876844	NM_001002294.3(FMO3):c.539G>T (p.Gly180Val)	FMO3, LOC126805916 (G160V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 725663	NM_001002294.3(FMO3):c.549T>C (p.Asn183=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3339302	NM_001002294.3(FMO3):c.557G>A (p.Arg186His)	FMO3, LOC126805916 (R123H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2822929	NM_001002294.3(FMO3):c.559del (p.Val187fs)	FMO3, LOC126805916 (V124fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3095894	NM_001002294.3(FMO3):c.560T>G (p.Val187Gly)	FMO3, LOC126805916 (V124G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 242472	NM_001002294.3(FMO3):c.560T>C (p.Val187Ala)	FMO3, LOC126805916 (V187A +2 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2841104	NM_001002294.3(FMO3):c.567G>A (p.Val189=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3251858	NM_001002294.3(FMO3):c.571G>T (p.Gly191Cys)	FMO3, LOC126805916 (G128C +2 more)	Single nucleotide variant (missense variant)	Trimethylaminuria	GLikely pathogenic
Select item 2746410	NM_001002294.3(FMO3):c.584C>A (p.Ser195Ter)	FMO3, LOC126805916 (S195* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2503941	NM_001002294.3(FMO3):c.584C>T (p.Ser195Leu)	FMO3, LOC126805916 (S132L +2 more)	Single nucleotide variant (missense variant)	Trimethylaminuria	GLikely pathogenic
Select item 748907	NM_001002294.3(FMO3):c.585G>A (p.Ser195=)	FMO3, LOC126805916	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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