"GeneDx"[submitter] AND "F2"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 152826	GRCh38/hg38 11p11.2(chr11:46420955-46728372)x3	AMBRA1, ARHGAP1 +13 more	Copy number gain	See cases	GUncertain significance
Select item 304806	NM_000506.5(F2):c.79+7G>A	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency +3 more	GBenign/Likely benign
Select item 2444550	NM_000506.5(F2):c.103C>T (p.Arg35Trp)	F2 (R35W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1277924	NM_000506.5(F2):c.240+83C>T	F2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282590	NM_000506.5(F2):c.241-165C>A	F2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255209	NM_000506.5(F2):c.266-91T>C	F2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290658	NM_000506.5(F2):c.316+36G>A	F2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272358	NM_000506.5(F2):c.316+99A>G	F2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249362	NM_000506.5(F2):c.317-260G>A	F2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183393	NM_000506.5(F2):c.317-202T>C	F2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256315	NM_000506.5(F2):c.423-7G>C	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency +3 more	GBenign/Likely benign
Select item 256316	NM_000506.5(F2):c.480C>T (p.Pro160=)	F2	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +3 more	GBenign/Likely benign
Select item 256317	NM_000506.5(F2):c.494C>T (p.Thr165Met)	F2 (T165M)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency +3 more	GBenign/Likely benign
Select item 2577603	NM_000506.5(F2):c.689A>G (p.His230Arg)	F2 (H230R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1238592	NM_000506.5(F2):c.875-69T>C	F2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241269	NM_000506.5(F2):c.1131-312G>A	F2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235441	NM_000506.5(F2):c.1131-300T>C	F2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259692	NM_000506.5(F2):c.1131-212T>A	F2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256312	NM_000506.5(F2):c.1233G>A (p.Pro411=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency +3 more	GBenign/Likely benign
Select item 1182491	NM_000506.5(F2):c.1299-150C>G	F2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278117	NM_000506.5(F2):c.1472+150del	F2	Deletion (intron variant)	not provided	GBenign
Select item 1279057	NM_000506.5(F2):c.1472+251T>C	F2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246778	NM_000506.5(F2):c.1473-111T>C	F2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1098524	NM_000506.5(F2):c.1598G>A (p.Arg533Gln)	F2 (R533Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1258693	NM_000506.5(F2):c.1654+290T>C	F2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262808	NM_000506.5(F2):c.1655-132G>T	F2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1303191	NM_000506.5(F2):c.1679G>A (p.Arg560Gln)	F2 (R560Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 143996	NM_000506.5(F2):c.1726-59G>A	F2	Single nucleotide variant (intron variant)	Pregnancy loss, recurrent, susceptibility to, 2 +4 more	GBenign
Select item 692073	NM_000506.5(F2):c.1787G>A (p.Arg596Gln)	F2 (R596Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1711913	NM_000506.5(F2):c.1829A>G (p.Lys610Arg)	F2 (K610R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13310	NM_000506.5(F2):c.*97G>A	F2	Single nucleotide variant	not provided +4 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance; risk factor

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Items: 32