F7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	LOC121466733, LOC121468000 +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130010147, LOC130010148 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009360, LOC130009361 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	LOC130009909, LOC130009910 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC112163664, LOC112163665 +2040 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	URAD, USP12 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	SIAH3, SLAIN1 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	ABCC4, ABHD13 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	LINC00550, LINC00552 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	ABCC4, ABHD13 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	ABCC4, ABHD13 +705 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	LOC132090867, MBNL2 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	LOC130009970, LOC130009971 +638 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 more	Copy number gain	See cases	GPathogenic
Select item 59921	GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	ABHD13, ADPRHL1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 57684	GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1	ABHD13, ADPRHL1 +369 more	Copy number loss	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 147642	GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3	ABHD13, ADPRHL1 +360 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 148757	GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1	LOC121468007, LOC121838584 +339 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 155263	GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1	ABHD13, ADPRHL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 155489	GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3	ABHD13, ADPRHL1 +325 more	Copy number gain	See cases	GUncertain significance
Select item 151756	GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1	LOC116268457, LOC121468007 +321 more	Copy number loss	See cases	GPathogenic
Select item 57471	GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1	ABHD13, ADPRHL1 +318 more	Copy number loss	See cases	GPathogenic
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 148614	GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1	ABHD13, ADPRHL1 +302 more	Copy number loss	See cases	GPathogenic
Select item 161056	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 33799	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 56998	GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1	ADPRHL1, ANKRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	LOC130010213, LOC130010214 +261 more	Deletion	Factor VII deficiency +1 more	GPathogenic
Select item 155035	GRCh38/hg38 13q34(chr13:110857896-114342258)x1	ADPRHL1, ANKRD10 +179 more	Copy number loss	See cases	GPathogenic
Select item 148303	GRCh38/hg38 13q34(chr13:111118651-114340331)x3	MCF2L, MCF2L-AS1 +158 more	Copy number gain	See cases	GLikely pathogenic
Select item 152704	GRCh38/hg38 13q34(chr13:111200986-114340331)x1	ADPRHL1, ARHGEF7 +149 more	Copy number loss	See cases	GPathogenic
Select item 148895	GRCh38/hg38 13q34(chr13:111355741-114340331)x1	ADPRHL1, ATP11A +143 more	Copy number loss	See cases	GPathogenic
Select item 59927	GRCh38/hg38 13q34(chr13:111439396-114327173)x3	ADPRHL1, ATP11A +141 more	Copy number gain	See cases	GPathogenic
Select item 57714	GRCh38/hg38 13q34(chr13:111541166-113671678)x1	ADPRHL1, ATP11A +83 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 2775419	NM_000131.4(F7):c.-96C>A	F7	Single nucleotide variant	Hemophilia	GUncertain significance
Select item 12082	NC_000013.11:g.113105748C>G	F7	Single nucleotide variant	Factor VII deficiency	GPathogenic
Select item 626946	NM_000131.4(F7):c.-61T>G	F7	Single nucleotide variant	Factor VII deficiency	GLikely pathogenic
Select item 626945	NM_000131.4(F7):c.-55C>T	F7	Single nucleotide variant	Factor VII deficiency	GLikely pathogenic
Select item 882954	NM_019616.4(F7):c.-48C>A	F7	Single nucleotide variant (5 prime UTR variant +1 more)	Factor VII deficiency	GUncertain significance
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 626922	NM_019616.4(F7):c.-30A>C	F7	Single nucleotide variant (5 prime UTR variant +1 more)	Factor VII deficiency	GLikely pathogenic
Select item 311218	NM_019616.4(F7):c.-27C>T	F7	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital factor VII deficiency +1 more	GUncertain significance
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 12075	NM_019616.4(F7):c.38T>C (p.Leu13Pro)	F7 (L13P)	Single nucleotide variant (missense variant +1 more)	Factor VII deficiency	GPathogenic
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 444322	NM_019616.4(F7):c.64+5G>A	F7	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 311219	NM_019616.4(F7):c.64+8C>T	F7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely 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 883752	NM_019616.4(F7):c.64+941C>T	F7	Single nucleotide variant (synonymous variant +1 more)	Factor VII deficiency	GBenign
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 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 311220	NM_019616.4(F7):c.64+983G>A	F7	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
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 311221	NM_019616.4(F7):c.64+1016A>T	F7	Single nucleotide variant (intron variant)	Factor VII deficiency	GUncertain significance
Select item 1271772	NM_019616.4(F7):c.64+1294C>T	F7	Single nucleotide variant (intron variant)	not provided	GBenign
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 1098442	NM_019616.4(F7):c.84A>C (p.Glu28Asp)	F7 (E28D +1 more)	Single nucleotide variant (missense variant +2 more)	Factor VII deficiency	GLikely benign
Select item 1527903	NM_019616.4(F7):c.86C>A (p.Ala29Asp)	F7 (A29D +1 more)	Single nucleotide variant (missense variant +2 more)	Congenital factor VII deficiency	GLikely pathogenic
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 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 311222	NM_019616.4(F7):c.103C>A (p.Arg35=)	F7	Single nucleotide variant (synonymous variant +2 more)	Factor VII deficiency	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 1703844	NM_019616.4(F7):c.142C>T (p.Pro48Ser)	F7 (P48S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1676746	NM_019616.4(F7):c.145G>C (p.Gly49Arg)	F7 (G49R +1 more)	Single nucleotide variant (missense variant +2 more)	Congenital factor VII deficiency	GLikely pathogenic
Select item 627274	NM_019616.4(F7):c.149C>G (p.Ser50Cys)	F7 (S50C +1 more)	Single nucleotide variant (missense variant +2 more)	Factor VII deficiency	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 627276	NM_019616.4(F7):c.152T>A (p.Leu51Gln)	F7 (L51Q +1 more)	Single nucleotide variant (missense variant +2 more)	Factor VII deficiency	GLikely pathogenic
Select item 1703838	NM_019616.4(F7):c.169G>C (p.Glu57Gln)	F7 (E57Q +1 more)	Single nucleotide variant (missense variant +2 more)	Congenital factor VII deficiency	GUncertain significance
Select item 1703839	NM_019616.4(F7):c.175C>T (p.Gln59Ter)	F7 (Q59* +1 more)	Single nucleotide variant (nonsense +2 more)	Congenital factor VII deficiency	GLikely pathogenic
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 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 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 12087	NM_019616.4(F7):c.187G>A (p.Glu63Lys)	F7 (E63K +1 more)	Single nucleotide variant (missense variant +2 more)	Factor VII deficiency	GPathogenic
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 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 1013040	NM_019616.4(F7):c.195C>G (p.Ala65=)	F7	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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	GLikely pathogenic
Select item 1703842	NM_019616.4(F7):c.196C>G (p.Arg66Gly)	F7 (R66G +1 more)	Single nucleotide variant (missense variant +2 more)	Congenital factor VII deficiency	GUncertain significance
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 1684390	NM_019616.4(F7):c.213C>G (p.Asp71Glu)	F7 (D71E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 627050	NM_019616.4(F7):c.217G>A (p.Glu73Lys)	F7 (E73K +1 more)	Single nucleotide variant (missense variant +2 more)	Factor VII deficiency	GUncertain significance
Select item 311223	NM_019616.4(F7):c.219G>A (p.Glu73=)	F7	Single nucleotide variant (non-coding transcript variant +2 more)	Factor VII deficiency	GBenign

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