ClinVar for Gene (Select 2155) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352537	NM_019616.4(F7):c.1008G>A (p.Met336Ile)	F7 (M274I +2 more)	Single nucleotide variant (missense variant +1 more)	F7-related disorder	GLikely pathogenic
Select item 3351690	NM_019616.4(F7):c.943C>T (p.Arg315Cys)	F7 (R253C +2 more)	Single nucleotide variant (missense variant +1 more)	F7-related disorder	GLikely pathogenic
Select item 3350615	NC_000013.11:g.113105784G>A	F7	Single nucleotide variant	F7-related disorder	GLikely pathogenic
Select item 3349591	NM_019616.4(F7):c.1024C>G (p.Arg342Gly)	F7 (R280G +2 more)	Single nucleotide variant (missense variant +1 more)	F7-related disorder	GLikely pathogenic
Select item 3347618	NM_019616.4(F7):c.225+1018_225+1057del	F7	Deletion (intron variant)	F7-related disorder	GLikely benign
Select item 3347532	NM_019616.4(F7):c.187G>C (p.Glu63Gln)	F7 (E63Q +1 more)	Single nucleotide variant (missense variant +2 more)	F7-related disorder	GUncertain significance
Select item 3346163	NM_019616.4(F7):c.1065G>A (p.Val355=)	F7	Single nucleotide variant (synonymous variant +1 more)	F7-related disorder	GLikely benign
Select item 3345964	NM_019616.4(F7):c.464G>A (p.Gly155Glu)	F7 (G155E +2 more)	Single nucleotide variant (missense variant +1 more)	F7-related disorder	GUncertain significance
Select item 3340423	NM_019616.4(F7):c.394G>A (p.Glu132Lys)	F7 (E132K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340422	NM_019616.4(F7):c.225G>C (p.Thr75=)	F7	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely pathogenic
Select item 3337092	NM_019616.4(F7):c.224C>T (p.Thr75Met)	F7 (T75M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3336597	NM_019616.4(F7):c.763G>A (p.Asp255Asn)	F7 (D193N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3336207	NM_019616.4(F7):c.1093A>G (p.Met365Val)	F7 (M303V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276999	NM_019616.4(F7):c.613C>A (p.Gln205Lys)	F7 (Q227K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3276997	NM_019616.4(F7):c.745C>T (p.His249Tyr)	F7 (H271Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3276996	NM_019616.4(F7):c.1082T>C (p.Ile361Thr)	F7 (I361T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3256268	NM_019616.4(F7):c.821C>T (p.Pro274Leu)	F7 (P212L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3255606	NM_019616.4(F7):c.974del (p.Leu325fs)	F7 (L263fs +2 more)	Deletion (frameshift variant +1 more)	Congenital factor VII deficiency	GLikely pathogenic
Select item 3252151	NM_019616.4(F7):c.484G>A (p.Gly162Arg)	F7 (G100R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
Select item 3238741	NM_019616.4(F7):c.605G>A (p.Cys202Tyr)	F7 (C140Y +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital factor VII deficiency	Gnot provided
Select item 3237208	NM_019616.4(F7):c.350G>A (p.Arg117Gln)	F7 (R117Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3233808	NM_019616.4(F7):c.581G>A (p.Gly194Asp)	F7 (G132D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148913	GRCh37/hg19 13q34(chr13:112071769-115107733)x3	ADPRHL1, ATP11A +23 more	Copy number gain	not provided	GUncertain significance
Select item 3091485	NM_019616.4(F7):c.784C>T (p.Arg262Trp)	F7 (R200W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3091484	NM_019616.4(F7):c.440A>G (p.Lys147Arg)	F7 (K85R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3091483	NM_019616.4(F7):c.110G>A (p.Arg37Gln)	F7 (R37Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3091482	NM_019616.4(F7):c.1289G>A (p.Arg430His)	F7 (R452H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3091481	NM_019616.4(F7):c.1058G>A (p.Arg353Gln)	F7 (R353Q +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital factor VII deficiency +1 more	GUncertain significance
Select item 3067939	NM_019616.4(F7):c.290G>A (p.Gly97Asp)	F7 (G119D +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital factor VII deficiency	GUncertain significance
Select item 3067922	NM_019616.4(F7):c.196C>T (p.Arg66Trp)	F7 (R66W +1 more)	Single nucleotide variant (missense variant +2 more)	Congenital factor VII deficiency +1 more	GConflicting classifications of pathogenicity
Select item 3064048	NM_019616.4(F7):c.364+14T>G	F7	Single nucleotide variant (intron variant)	Congenital factor VII deficiency	Gnot provided
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063302	GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	ABHD13, ADPRHL1 +39 more	Copy number gain	not specified	GUncertain significance
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 3050317	NM_019616.4(F7):c.-44T>C	F7	Single nucleotide variant (5 prime UTR variant +1 more)	F7-related disorder	GLikely benign
Select item 3048959	NM_019616.4(F7):c.580G>T (p.Gly194Cys)	F7 (G132C +2 more)	Single nucleotide variant (missense variant +1 more)	F7-related disorder	GLikely pathogenic
Select item 3048047	NM_019616.4(F7):c.729C>T (p.Ile243=)	F7	Single nucleotide variant (synonymous variant +1 more)	F7-related disorder	GLikely benign
Select item 3047343	NM_019616.4(F7):c.93C>T (p.Gly31=)	F7	Single nucleotide variant (synonymous variant +2 more)	F7-related disorder	GLikely benign
Select item 3043321	NM_019616.4(F7):c.846G>C (p.Ala282=)	F7	Single nucleotide variant (synonymous variant +1 more)	F7-related disorder	GLikely benign
Select item 3037080	NM_019616.4(F7):c.1181G>A (p.Trp394Ter)	F7 (W394* +2 more)	Single nucleotide variant (nonsense +1 more)	F7-related disorder	GLikely pathogenic
Select item 3034368	NM_019616.4(F7):c.1141G>T (p.Asp381Tyr)	F7 (D319Y +2 more)	Single nucleotide variant (missense variant +1 more)	F7-related disorder	GUncertain significance
Select item 3029457	NM_019616.4(F7):c.225+1061C>T	F7	Single nucleotide variant (intron variant)	F7-related disorder	GLikely benign
Select item 3029413	NM_019616.4(F7):c.178T>C (p.Cys60Arg)	F7 (C60R +1 more)	Single nucleotide variant (missense variant +2 more)	F7-related disorder	GLikely pathogenic
Select item 3024583	GRCh37/hg19 13q34(chr13:113158346-115091756)x1	ADPRHL1, ATP11A +21 more	Copy number loss	not provided	GPathogenic
Select item 2775419	NM_000131.4(F7):c.-96C>A	F7	Single nucleotide variant	Hemophilia	GUncertain significance
Select item 2692371	NM_019616.4(F7):c.580G>C (p.Gly194Arg)	F7 (G132R +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital factor VII deficiency	GLikely pathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ANKRD10, ANKRD10-IT1 +98 more	Copy number loss	not provided	GPathogenic
Select item 2684710	GRCh37/hg19 13q34(chr13:113445520-113818780)x3	ATP11A, F10 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 2683442	NM_019616.4(F7):c.739+1G>A	F7	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2683435	NM_019616.4(F7):c.385T>C (p.Cys129Arg)	F7 (C129R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2683243	NM_019616.4(F7):c.2T>C (p.Met1Thr)	F7 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2664036	NM_019616.4(F7):c.445T>C (p.Ser149Pro)	F7 (S149P +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital factor VII deficiency	GUncertain significance
Select item 2634242	NM_019616.4(F7):c.1057C>T (p.Arg353Trp)	F7 (R291W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2633010	NM_019616.4(F7):c.616G>C (p.Val206Leu)	F7 (V144L +2 more)	Single nucleotide variant (missense variant +1 more)	F7-related disorder	GUncertain significance
Select item 2630232	NM_019616.4(F7):c.518G>A (p.Cys173Tyr)	F7 (C111Y +2 more)	Single nucleotide variant (missense variant +1 more)	F7-related disorder	GUncertain significance
Select item 2617065	NM_019616.4(F7):c.64+945G>T	F7 (V24F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604417	NM_019616.4(F7):c.378G>T (p.Gln126His)	F7 (Q64H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2584870	NM_019616.4(F7):c.867_868insCA (p.Val290fs)	F7 (V228fs +2 more)	Insertion (frameshift variant +1 more)	Congenital factor VII deficiency	GUncertain significance
Select item 2582791	NM_019616.4(F7):c.190_191delinsTT (p.Glu64Leu)	F7 (E64L +1 more)	Indel (missense variant +2 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2582790	NM_019616.4(F7):c.179G>T (p.Cys60Phe)	F7 (C60F +1 more)	Single nucleotide variant (missense variant +2 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2582771	NM_019616.4(F7):c.[179G>T;190_191delinsTT]	F7 (C60F +3 more)	Single nucleotide variant (missense variant +2 more)	Congenital factor VII deficiency	GLikely pathogenic
Select item 2582716	NM_019616.4(F7):c.1145G>A (p.Ser382Asn)	F7 (S320N +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital factor VII deficiency	GUncertain significance
Select item 2581515	NM_019616.4(F7):c.838G>A (p.Asp280Asn)	F7 (D218N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010165, LOC130010166 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 2576544	NM_019616.4(F7):c.694T>C (p.Cys232Arg)	F7 (C170R +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital factor VII deficiency	GUncertain significance
Select item 2574454	NM_019616.4(F7):c.853C>T (p.Arg285Cys)	F7 (R223C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2573369	NM_019616.4(F7):c.185T>C (p.Phe62Ser)	F7 (F62S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2573368	NM_019616.4(F7):c.742G>A (p.Glu248Lys)	F7 (E186K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2572145	NM_019616.4(F7):c.154dup (p.Glu52fs)	F7 (E52fs +1 more)	Duplication (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2549777	NM_019616.4(F7):c.64+960G>A	F7 (G29R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540360	NM_019616.4(F7):c.818T>A (p.Val273Asp)	F7 (V295D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506137	NM_019616.4(F7):c.64+1005G>A	F7 (V44I)	Single nucleotide variant (missense variant +1 more)	Congenital factor VII deficiency	GLikely pathogenic
Select item 2504501	NM_019616.4(F7):c.751_765dup (p.Asp255_Gly256insLeuSerGluHisAsp)	F7	Duplication (inframe_insertion +1 more)	not provided	GLikely pathogenic
Select item 2487564	NM_019616.4(F7):c.210G>C (p.Lys70Asn)	F7 (K92N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2476325	NM_019616.4(F7):c.587T>C (p.Val196Ala)	F7 (V134A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472281	NM_019616.4(F7):c.991A>C (p.Thr331Pro)	F7 (T269P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2441326	NM_019616.4(F7):c.442C>T (p.Arg148Cys)	F7 (R148C +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital factor VII deficiency	GUncertain significance
Select item 2364529	NM_019616.4(F7):c.817G>A (p.Val273Ile)	F7 (V295I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2347986	NM_019616.4(F7):c.88C>T (p.His30Tyr)	F7 (H30Y +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2346099	NM_019616.4(F7):c.1033A>T (p.Thr345Ser)	F7 (T367S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322624	NM_019616.4(F7):c.1001A>G (p.Glu334Gly)	F7 (E272G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257762	NM_019616.4(F7):c.191A>T (p.Glu64Val)	F7 (E86V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2248385	NM_019616.4(F7):c.79G>A (p.Glu27Lys)	F7 (E49K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2244870	NM_019616.4(F7):c.731C>T (p.Ala244Val)	F7 (A266V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2236980	NM_019616.4(F7):c.431C>T (p.Thr144Met)	F7 (T144M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1878983	NM_019616.4(F7):c.1018G>A (p.Val340Met)	F7 (V278M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1878832	NM_019616.4(F7):c.685G>A (p.Ala229Thr)	F7 (A167T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1809298	GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	ABHD13, ADPRHL1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1808284	GRCh37/hg19 13q34(chr13:113196617-113800575)x1	ATP11A, ATP11AUN +4 more	Copy number loss	not provided	GUncertain significance
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1803185	NM_019616.4(F7):c.748G>A (p.Asp250Asn)	F7 (D188N +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital factor VII deficiency +1 more	GConflicting classifications of pathogenicity

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