2147[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 363

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	LOC130005622, LOC130005623 +224 more	Copy number loss	See cases	GPathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +264 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	LOC130005585, LOC130005586 +258 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +254 more	Copy number gain	See cases	GLikely pathogenic
Select item 152826	GRCh38/hg38 11p11.2(chr11:46420955-46728372)x3	AMBRA1, ARHGAP1 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2907385	NM_000506.5(F2):c.6G>A (p.Ala2=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2806215	NM_000506.5(F2):c.13C>T (p.Arg5Ter)	F2 (R5*)	Single nucleotide variant (nonsense)	Congenital prothrombin deficiency	GPathogenic
Select item 2902367	NM_000506.5(F2):c.19T>C (p.Leu7=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 304805	NM_000506.5(F2):c.45G>A (p.Leu15=)	F2	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +1 more	GConflicting classifications of pathogenicity
Select item 2902313	NM_000506.5(F2):c.69C>T (p.His23=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 304806	NM_000506.5(F2):c.79+7G>A	F2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 2895958	NM_000506.5(F2):c.79+10T>C	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2861481	NM_000506.5(F2):c.79+15G>T	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2856979	NM_000506.5(F2):c.79+15G>A	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2874251	NM_000506.5(F2):c.79+17A>G	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2870553	NM_000506.5(F2):c.80-13dup	F2	Duplication (intron variant)	Congenital prothrombin deficiency	GBenign
Select item 2871566	NM_000506.5(F2):c.80-18C>G	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2833465	NM_000506.5(F2):c.80-18C>A	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2806258	NM_000506.5(F2):c.80-14C>T	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2870682	NM_000506.5(F2):c.80-13C>T	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2789603	NM_000506.5(F2):c.80-13C>G	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2740186	NM_000506.5(F2):c.80-12dup	F2	Duplication (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2880344	NM_000506.5(F2):c.80-12A>C	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2775851	NM_000506.5(F2):c.80-12A>G	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2885530	NM_000506.5(F2):c.80-10C>T	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2893597	NM_000506.5(F2):c.80-9G>A	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 806659	NM_000506.5(F2):c.98A>C (p.Gln33Pro)	F2 (Q33P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444550	NM_000506.5(F2):c.103C>T (p.Arg35Trp)	F2 (R35W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894018	NM_000506.5(F2):c.105G>A (p.Arg35=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2884683	NM_000506.5(F2):c.108G>A (p.Ser36=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2441323	NM_000506.5(F2):c.118C>T (p.Arg40Trp)	F2 (R40W)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2735583	NM_000506.5(F2):c.124C>T (p.Arg42Trp)	F2 (R42W)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency	GUncertain significance
Select item 3013784	NM_000506.5(F2):c.135C>T (p.Asn45=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2884152	NM_000506.5(F2):c.153G>A (p.Val51=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 1777888	NM_000506.5(F2):c.167T>C (p.Leu56Pro)	F2 (L56P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2888253	NM_000506.5(F2):c.174A>G (p.Arg58=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 749493	NM_000506.5(F2):c.180C>T (p.Cys60=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 878742	NM_000506.5(F2):c.191C>T (p.Thr64Met)	F2 (T64M)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect +2 more	GUncertain significance
Select item 2919768	NM_000506.5(F2):c.192G>A (p.Thr64=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2907841	NM_000506.5(F2):c.192G>C (p.Thr64=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 806660	NM_000506.5(F2):c.201C>T (p.Tyr67=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency +1 more	GLikely benign
Select item 2847281	NM_000506.5(F2):c.207G>A (p.Glu69=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2896567	NM_000506.5(F2):c.210C>T (p.Ala70=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2887590	NM_000506.5(F2):c.213C>T (p.Phe71=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2886690	NM_000506.5(F2):c.216G>A (p.Glu72=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2892738	NM_000506.5(F2):c.228C>G (p.Ser76=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2588649	NM_000506.5(F2):c.233C>T (p.Thr78Met)	F2 (T78M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 878743	NM_000506.5(F2):c.234G>A (p.Thr78=)	F2	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +1 more	GConflicting classifications of pathogenicity
Select item 2971116	NM_000506.5(F2):c.240+7C>T	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2875044	NM_000506.5(F2):c.240+17C>T	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2833185	NM_000506.5(F2):c.240+18G>C	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2785288	NM_000506.5(F2):c.240+18G>A	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
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 2842103	NM_000506.5(F2):c.241-18C>T	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2807230	NM_000506.5(F2):c.241-17C>T	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 627289	NM_000506.5(F2):c.260A>G (p.Tyr87Cys)	F2 (Y87C)	Single nucleotide variant (missense variant)	Coagulation factor deficiency syndrome	GLikely pathogenic
Select item 2712406	NM_000506.5(F2):c.261C>T (p.Tyr87=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2853106	NM_000506.5(F2):c.265+6dup	F2	Duplication (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2893896	NM_000506.5(F2):c.265+8C>T	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2891333	NM_000506.5(F2):c.265+9C>T	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2886444	NM_000506.5(F2):c.265+10G>A	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 1255209	NM_000506.5(F2):c.266-91T>C	F2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2884140	NM_000506.5(F2):c.279G>A (p.Ala93=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 1796814	NM_000506.5(F2):c.284C>T (p.Thr95Met)	F2 (T95M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 878744	NM_000506.5(F2):c.285G>A (p.Thr95=)	F2	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +1 more	GConflicting classifications of pathogenicity
Select item 2862091	NM_000506.5(F2):c.316+8A>C	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2877572	NM_000506.5(F2):c.316+15C>T	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2868567	NM_000506.5(F2):c.316+16G>A	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2833508	NM_000506.5(F2):c.316+18G>A	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
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 2859592	NM_000506.5(F2):c.317-19C>T	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2869971	NM_000506.5(F2):c.317-18G>A	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2859355	NM_000506.5(F2):c.317-15G>A	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2714270	NM_000506.5(F2):c.317-14T>C	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2718329	NM_000506.5(F2):c.317-12G>C	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2914787	NM_000506.5(F2):c.317-5C>T	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 304807	NM_000506.5(F2):c.317-4G>A	F2	Single nucleotide variant (intron variant)	Thrombophilia due to thrombin defect +1 more	GConflicting classifications of pathogenicity
Select item 2905159	NM_000506.5(F2):c.321C>T (p.Asn107=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2962433	NM_000506.5(F2):c.327T>C (p.Ala109=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2892905	NM_000506.5(F2):c.342G>A (p.Thr114=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2870573	NM_000506.5(F2):c.348C>T (p.Tyr116=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2957927	NM_000506.5(F2):c.349C>T (p.Arg117Ter)	F2 (R117*)	Single nucleotide variant (nonsense)	Congenital prothrombin deficiency	GPathogenic
Select item 2584872	NM_000506.5(F2):c.350G>A (p.Arg117Gln)	F2 (R117Q)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect	GUncertain significance
Select item 631659	NM_000506.5(F2):c.355_356insCA (p.His119fs)	F2 (H119fs)	Insertion (frameshift variant)	F2-Related Disorders	GUncertain significance
Select item 2955063	NM_000506.5(F2):c.369C>T (p.Thr123=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 1033061	NM_000506.5(F2):c.371G>A (p.Arg124Gln)	F2 (R124Q)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency	GUncertain significance
Select item 2884504	NM_000506.5(F2):c.392dup (p.Trp132fs)	F2 (W132fs)	Duplication (frameshift variant)	Congenital prothrombin deficiency	GPathogenic
Select item 2907919	NM_000506.5(F2):c.393A>G (p.Leu131=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2735584	NM_000506.5(F2):c.422+1G>A	F2	Single nucleotide variant (splice donor variant)	Congenital prothrombin deficiency	GLikely pathogenic
Select item 2868603	NM_000506.5(F2):c.422+14C>T	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2855464	NM_000506.5(F2):c.423-19G>T	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2860823	NM_000506.5(F2):c.423-13T>A	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2770273	NM_000506.5(F2):c.423-11T>G	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 256315	NM_000506.5(F2):c.423-7G>C	F2	Single nucleotide variant (intron variant)	Thrombophilia due to thrombin defect +3 more	GBenign/Likely benign
Select item 2985454	NM_000506.5(F2):c.423-4C>G	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GLikely benign
Select item 2567223	NM_000506.5(F2):c.432C>T (p.Ser144=)	F2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign

<< First< Prev

Page of 4