"GeneDx"[submitter] AND "F7"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 152824	GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3	LOC130010172, LOC130010173 +367 more	Copy number gain	See cases	GPathogenic
Select item 57685	GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1	GAS6-AS1, GAS6-DT +363 more	Copy number loss	See cases	GPathogenic
Select item 57709	GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 57710	GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 59929	GRCh38/hg38 13q34(chr13:112292922-113636272)x3	ADPRHL1, ATP11A +68 more	Copy number gain	See cases	GPathogenic
Select item 12079	NC_000013.11:g.113105517_113105518insCCTATATCCT	F7	Insertion	not provided	GBenign
Select item 1249500	NC_000013.11:g.113105720T>C	F7	Single nucleotide variant	not provided	GBenign
Select item 517720	NM_019616.4(F7):c.64+4C>T	F7	Single nucleotide variant (intron variant)	Factor VII deficiency +3 more	GLikely benign
Select item 255219	NM_019616.4(F7):c.64+9G>A	F7	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1277836	NM_019616.4(F7):c.64+196G>A	F7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1703835	NM_019616.4(F7):c.64+937C>T	F7	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1271772	NM_019616.4(F7):c.64+1294C>T	F7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 627276	NM_019616.4(F7):c.152T>A (p.Leu51Gln)	F7 (L51Q +1 more)	Single nucleotide variant (missense variant +2 more)	Factor VII deficiency +1 more	GConflicting classifications of pathogenicity
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 1273923	NM_019616.4(F7):c.225+71G>A	F7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 627309	NM_019616.4(F7):c.364+1G>A	F7	Single nucleotide variant (splice donor variant)	Myocardial infarction, susceptibility to +3 more	GPathogenic/Likely pathogenic
Select item 1280075	NM_019616.4(F7):c.364+311C>T	F7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249401	NM_019616.4(F7):c.365-57G>A	F7	Single nucleotide variant (intron variant)	not provided	GBenign
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 1315977	NM_019616.4(F7):c.400G>A (p.Gly134Ser)	F7 (G134S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 255218	NM_019616.4(F7):c.459C>T (p.His153=)	F7	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
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 1678759	NM_019616.4(F7):c.505+78G>A	F7	Single nucleotide variant (intron variant)	Congenital factor VII deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1291650	NM_019616.4(F7):c.506-204G>A	F7	Single nucleotide variant (intron variant)	not provided	GBenign
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	GConflicting classifications of pathogenicity
Select item 1706362	NM_019616.4(F7):c.686C>T (p.Ala229Val)	F7 (A167V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 632209	NM_019616.4(F7):c.739+3_739+6del	F7	Microsatellite (splice donor variant)	Factor VII deficiency +3 more	GConflicting classifications of pathogenicity
Select item 1261968	NM_019616.4(F7):c.739+52T>C	F7	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 12076	NM_019616.4(F7):c.995C>T (p.Ala332Val)	F7 (A354V +2 more)	Single nucleotide variant (missense variant +1 more)	Factor VII deficiency +4 more	GPathogenic/Likely pathogenic
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 420159	NM_019616.4(F7):c.1025G>A (p.Arg342Gln)	F7 (R342Q +2 more)	Single nucleotide variant (missense variant +1 more)	Myocardial infarction, susceptibility to +3 more	GPathogenic/Likely pathogenic; other
Select item 265135	NM_019616.4(F7):c.1043G>T (p.Cys348Phe)	F7 (C348F +2 more)	Single nucleotide variant (missense variant +1 more)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 420160	NM_019616.4(F7):c.1085C>T (p.Thr362Met)	F7 (T362M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 12080	NM_019616.4(F7):c.1172G>A (p.Arg391Gln)	F10, F7 (R413Q +2 more)	Single nucleotide variant (missense variant +1 more)	Factor X deficiency +3 more	GBenign
Select item 883021	NM_019616.4(F7):c.1267G>A (p.Glu423Lys)	F7 (E361K +2 more)	Single nucleotide variant (missense variant +1 more)	Myocardial infarction, susceptibility to +3 more	GUncertain significance
Select item 626999	NM_019616.4(F7):c.1325del (p.Pro442fs)	F7 (P442fs +2 more)	Deletion (frameshift variant +1 more)	Factor VII deficiency +4 more	GPathogenic/Likely pathogenic
Select item 1229464	NM_019616.4(F7):c.155_156insAA	F7	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 311266	NM_000504.4(F10):c.-40C>T	F10, F7	Single nucleotide variant (5 prime UTR variant)	Factor VII deficiency +2 more	GBenign/Likely benign
Select item 253491	GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1	ABCC4, ABHD13 +94 more	Copy number loss	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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Items: 43