F10-AS1[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +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	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +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	ABCC4, ABHD13 +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 1178123	NM_000504.4(F10):c.71-42_71-41insAGAGGAGCCTGGGTGA	F10, F10-AS1	Insertion (intron variant)	not provided	GBenign
Select item 708444	NM_000504.4(F10):c.71-8C>T	F10, F10-AS1	Single nucleotide variant (intron variant)	Hereditary factor X deficiency disease +1 more	GBenign/Likely benign
Select item 2543962	NM_000504.4(F10):c.77T>C (p.Ile26Thr)	F10, F10-AS1 (I26T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1098452	NM_000504.4(F10):c.80G>A (p.Arg27His)	F10, F10-AS1 (R27H)	Single nucleotide variant (missense variant)	Factor X deficiency	GUncertain significance
Select item 1098480	NM_000504.4(F10):c.84G>T (p.Arg28Ser)	F10, F10-AS1 (R28S)	Single nucleotide variant (missense variant)	Factor X deficiency	GUncertain significance
Select item 1098481	NM_000504.4(F10):c.89A>G (p.Gln30Arg)	F10-AS1, F10 (Q30R)	Single nucleotide variant (missense variant)	Factor X deficiency	GUncertain significance
Select item 311270	NM_000504.4(F10):c.90G>C (p.Gln30His)	F10, F10-AS1 (Q30H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1098482	NM_000504.4(F10):c.107C>A (p.Ala36Glu)	F10, F10-AS1 (A36E)	Single nucleotide variant (missense variant)	Factor X deficiency	GUncertain significance
Select item 717320	NM_000504.4(F10):c.111G>A (p.Arg37=)	F10-AS1, F10	Single nucleotide variant (synonymous variant)	Hereditary factor X deficiency disease +1 more	GBenign
Select item 2572121	NM_000504.4(F10):c.119G>C (p.Arg40Thr)	F10, F10-AS1 (R40T)	Single nucleotide variant (missense variant)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 12063	NM_000504.4(F10):c.140A>G (p.Glu47Gly)	F10, F10-AS1 (E47G)	Single nucleotide variant (missense variant)	Factor X deficiency	GPathogenic
Select item 881987	NM_000504.4(F10):c.142A>C (p.Met48Leu)	F10, F10-AS1 (M48L)	Single nucleotide variant (missense variant)	Hereditary factor X deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 750766	NM_000504.4(F10):c.147G>A (p.Lys49=)	F10, F10-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1098483	NM_000504.4(F10):c.152G>A (p.Gly51Glu)	F10, F10-AS1 (G51E)	Single nucleotide variant (missense variant)	Factor X deficiency	GUncertain significance
Select item 627251	NM_000504.4(F10):c.160G>A (p.Glu54Lys)	F10, F10-AS1 (E54K)	Single nucleotide variant (missense variant)	Factor X deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1684308	NM_000504.4(F10):c.162_163del (p.Glu56fs)	F10, F10-AS1 (E56fs)	Deletion (frameshift variant)	Hereditary factor X deficiency disease	GPathogenic
Select item 627253	NM_000504.4(F10):c.161A>G (p.Glu54Gly)	F10, F10-AS1 (E54G)	Single nucleotide variant (missense variant)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 2505499	NM_000504.4(F10):c.167A>G (p.Glu56Gly)	F10, F10-AS1 (E56G)	Single nucleotide variant (missense variant)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 2239888	NM_000504.4(F10):c.174G>A (p.Met58Ile)	F10, F10-AS1 (M58I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3350963	NM_000504.4(F10):c.200C>T (p.Ala67Val)	F10, F10-AS1 (A67V)	Single nucleotide variant (missense variant)	F10-related disorder	GUncertain significance
Select item 1684307	NM_000504.4(F10):c.205G>A (p.Glu69Lys)	F10, F10-AS1 (E69K)	Single nucleotide variant (missense variant)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 2572143	NM_000504.4(F10):c.212T>C (p.Phe71Ser)	F10, F10-AS1 (F71S)	Single nucleotide variant (missense variant)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 12065	NM_000504.4(F10):c.214G>C (p.Glu72Gln)	F10, F10-AS1 (E72Q)	Single nucleotide variant (missense variant)	Factor X deficiency	GPathogenic
Select item 1684306	NM_000504.4(F10):c.231G>C (p.Thr77=)	F10, F10-AS1	Single nucleotide variant (synonymous variant)	Hereditary factor X deficiency disease	GUncertain significance
Select item 1250576	NM_000504.4(F10):c.231+64C>T	F10, F10-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290740	NM_000504.4(F10):c.231+89G>A	F10, F10-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226473	NM_000504.4(F10):c.231+295T>G	F10, F10-AS1	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 74