ClinVar for Gene (Select 2162) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063776	NM_000129.4(F13A1):c.872C>G (p.Ser291Trp)	F13A1 (S291W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063775	NM_000129.4(F13A1):c.1796T>C (p.Leu599Pro)	F13A1 (L599P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058069	NM_000129.4(F13A1):c.633G>T (p.Gly211=)	F13A1	Single nucleotide variant (synonymous variant)	F13A1-related condition	GLikely benign
Select item 3057347	NM_000129.4(F13A1):c.417G>A (p.Glu139=)	F13A1	Single nucleotide variant (synonymous variant)	F13A1-related condition	GLikely benign
Select item 3052282	NM_000129.4(F13A1):c.749T>C (p.Leu250Pro)	F13A1 (L250P)	Single nucleotide variant (missense variant)	F13A1-related condition	GUncertain significance
Select item 3049962	NM_000129.4(F13A1):c.315C>T (p.Val105=)	F13A1	Single nucleotide variant (synonymous variant)	F13A1-related condition	GLikely benign
Select item 3048225	NM_000129.4(F13A1):c.1833T>C (p.Ala611=)	F13A1	Single nucleotide variant (synonymous variant)	F13A1-related condition	GLikely benign
Select item 3042814	NM_000129.4(F13A1):c.1863C>T (p.Ala621=)	F13A1	Single nucleotide variant (synonymous variant)	F13A1-related condition	GLikely benign
Select item 3039473	NM_000129.4(F13A1):c.118G>A (p.Val40Ile)	F13A1 (V40I)	Single nucleotide variant (missense variant)	F13A1-related condition	GLikely benign
Select item 3038012	NM_000129.4(F13A1):c.1419T>C (p.Asp473=)	F13A1	Single nucleotide variant (synonymous variant)	F13A1-related condition	GLikely benign
Select item 3034199	NM_000129.4(F13A1):c.-26G>A	F13A1	Single nucleotide variant (5 prime UTR variant)	F13A1-related condition	GLikely benign
Select item 3033418	NM_000129.4(F13A1):c.-25C>G	F13A1	Single nucleotide variant (5 prime UTR variant)	F13A1-related condition	GLikely benign
Select item 3033152	NM_000129.4(F13A1):c.1737G>A (p.Glu579=)	F13A1	Single nucleotide variant (synonymous variant)	F13A1-related condition	GLikely benign
Select item 3032912	NM_000129.4(F13A1):c.572-4del	F13A1	Deletion (intron variant)	F13A1-related condition	GLikely benign
Select item 3032801	NM_000129.4(F13A1):c.521del (p.Ser174fs)	F13A1 (S174fs)	Deletion (frameshift variant)	F13A1-related condition	GPathogenic
Select item 3028895	NM_000129.4(F13A1):c.820G>C (p.Gly274Arg)	F13A1 (G274R)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GLikely pathogenic
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 2683978	NM_000129.4(F13A1):c.232C>T (p.Arg78Cys)	F13A1 (R78C)	Single nucleotide variant (missense variant)	F13A1-related condition +1 more	GPathogenic/Likely pathogenic
Select item 2664012	NM_000129.4(F13A1):c.601G>A (p.Glu201Lys)	F13A1 (E201K)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 2637102	NM_000129.4(F13A1):c.1305+1G>A	F13A1	Single nucleotide variant (splice donor variant)	F13A1-related condition	GPathogenic
Select item 2635966	NM_000129.4(F13A1):c.1726G>A (p.Val576Met)	F13A1 (V576M)	Single nucleotide variant (missense variant)	F13A1-related condition	GUncertain significance
Select item 2617444	NM_000129.4(F13A1):c.385G>A (p.Gly129Arg)	F13A1 (G129R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608567	NM_000129.4(F13A1):c.317T>C (p.Ile106Thr)	F13A1 (I106T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607907	NM_000129.4(F13A1):c.644A>T (p.Tyr215Phe)	F13A1 (Y215F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582772	NM_000129.4(F13A1):c.669del (p.Arg224fs)	F13A1 (R224fs)	Deletion (frameshift variant)	Factor XIII, A subunit, deficiency of	GLikely pathogenic
Select item 2582702	NM_000129.4(F13A1):c.1430A>G (p.Asp477Gly)	F13A1 (D477G)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 2581648	NM_000129.4(F13A1):c.1261G>A (p.Gly421Ser)	F13A1 (G421S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578139	NM_000129.4(F13A1):c.1271G>A (p.Cys424Tyr)	F13A1 (C424Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575462	NM_000129.4(F13A1):c.1349C>T (p.Thr450Ile)	F13A1 (T450I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574447	NM_000129.4(F13A1):c.1183G>A (p.Ala395Thr)	F13A1 (A395T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572146	NM_000129.4(F13A1):c.235A>T (p.Arg79Ter)	F13A1 (R79*)	Single nucleotide variant (nonsense)	Factor XIII, A subunit, deficiency of	GLikely pathogenic
Select item 2572144	NM_000129.4(F13A1):c.2150A>G (p.His717Arg)	F13A1 (H717R)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 2572140	NM_000129.4(F13A1):c.1860_1861delinsCT (p.Ala621Ser)	F13A1 (A621S)	Indel (missense variant)	Thrombophilia due to thrombin defect	GUncertain significance
Select item 2572108	NM_000129.4(F13A1):c.723T>G (p.Tyr241Ter)	F13A1 (Y241*)	Single nucleotide variant (nonsense)	Factor XIII, A subunit, deficiency of	GLikely pathogenic
Select item 2572103	NM_000129.4(F13A1):c.1112+1G>A	F13A1	Single nucleotide variant (splice donor variant)	Factor XIII, A subunit, deficiency of	GLikely pathogenic
Select item 2547303	NM_000129.4(F13A1):c.530C>A (p.Pro177Gln)	F13A1 (P177Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543397	NM_000129.4(F13A1):c.857A>G (p.Tyr286Cys)	F13A1 (Y286C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541439	NM_000129.4(F13A1):c.107T>C (p.Val36Ala)	F13A1 (V36A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539324	NM_000129.4(F13A1):c.788G>T (p.Gly263Val)	F13A1 (G263V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530566	NM_000129.4(F13A1):c.1538T>A (p.Met513Lys)	F13A1 (M513K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529383	NM_000129.4(F13A1):c.1960A>T (p.Thr654Ser)	F13A1 (T654S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527215	NM_000129.4(F13A1):c.2066C>T (p.Thr689Ile)	F13A1 (T689I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517548	NM_000129.4(F13A1):c.1864A>G (p.Lys622Glu)	F13A1 (K622E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496319	NM_000129.4(F13A1):c.2095T>G (p.Trp699Gly)	F13A1 (W699G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489461	NM_000129.4(F13A1):c.1782G>C (p.Glu594Asp)	F13A1 (E594D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483126	NM_000129.4(F13A1):c.347C>A (p.Thr116Asn)	F13A1 (T116N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467413	NM_000129.4(F13A1):c.1780G>A (p.Glu594Lys)	F13A1 (E594K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459581	NM_000129.4(F13A1):c.2068G>A (p.Val690Met)	F13A1 (V690M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2440190	NM_000129.4(F13A1):c.1914_1915del (p.Gly639fs)	F13A1 (G639fs)	Deletion (frameshift variant)	Factor XIII, A subunit, deficiency of	GLikely pathogenic
Select item 2429375	NM_000129.4(F13A1):c.937G>C (p.Gly313Arg)	F13A1 (G313R)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GLikely pathogenic
Select item 2425615	NC_000006.11:g.(?_5771504)_(6182394_?)dup	FARS2, NRN1 +1 more	Duplication	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2425612	NC_000006.11:g.(?_5109657)_(6320826_?)del	F13A1, FARS2 +2 more	Deletion	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 2405311	NM_000129.4(F13A1):c.1981C>G (p.Leu661Val)	F13A1 (L661V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376641	NM_000129.4(F13A1):c.323G>A (p.Arg108His)	F13A1 (R108H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367502	NM_000129.4(F13A1):c.1462C>G (p.Gln488Glu)	F13A1 (Q488E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339669	NM_000129.4(F13A1):c.1879G>A (p.Val627Met)	F13A1 (V627M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311971	NM_000129.4(F13A1):c.436T>A (p.Ser146Thr)	F13A1 (S146T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247103	NM_000129.4(F13A1):c.1676C>A (p.Thr559Asn)	F13A1 (T559N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241236	NM_000129.4(F13A1):c.1213G>A (p.Asp405Asn)	F13A1 (D405N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2234325	NM_000129.4(F13A1):c.1376C>A (p.Thr459Asn)	F13A1 (T459N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222361	NM_000129.4(F13A1):c.1405C>G (p.Gln469Glu)	F13A1 (Q469E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2219760	NM_000129.4(F13A1):c.1286C>T (p.Ala429Val)	F13A1 (A429V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809752	NM_000129.4(F13A1):c.27del (p.Phe9fs)	F13A1 (F9fs)	Deletion (frameshift variant)	Factor XIII, A subunit, deficiency of +1 more	GPathogenic
Select item 1705953	NM_000129.4(F13A1):c.826C>T (p.Leu276Phe)	F13A1 (L276F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1705952	NM_000129.4(F13A1):c.1503C>A (p.Tyr501Ter)	F13A1 (Y501*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1705322	NM_000129.4(F13A1):c.707T>G (p.Leu236Arg)	F13A1 (L236R)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 1705111	NM_000129.4(F13A1):c.1135G>C (p.Ala379Pro)	F13A1 (A379P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526251	NM_000129.4(F13A1):c.460_461insGC (p.Ile154fs)	F13A1 (I154fs)	Insertion (frameshift variant)	Factor XIII, A subunit, deficiency of	GPathogenic
Select item 1343429	NM_000129.4(F13A1):c.1695G>A (p.Pro565=)	F13A1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1322859	NM_000129.4(F13A1):c.1405_1408del (p.Gln469fs)	F13A1 (Q469fs)	Microsatellite (frameshift variant)	Factor XIII, A subunit, deficiency of	GPathogenic
Select item 1317849	NM_000129.4(F13A1):c.1622G>A (p.Arg541Gln)	F13A1 (R541Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1295079	NM_000129.4(F13A1):c.572-119dup	F13A1	Duplication (intron variant)	not provided	GBenign
Select item 1295061	NM_000129.4(F13A1):c.1112+164A>T	F13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290616	NM_000129.4(F13A1):c.974-333G>A	F13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283262	NM_000129.4(F13A1):c.973+305T>C	F13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281828	NM_000129.4(F13A1):c.1459+139G>A	F13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280770	NM_000129.4(F13A1):c.571+238G>A	F13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277392	NM_000129.4(F13A1):c.1747+168_1747+170dup	F13A1	Duplication (intron variant)	not provided	GBenign
Select item 1276113	NM_000129.4(F13A1):c.1747+232C>A	F13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273979	NM_000129.4(F13A1):c.1460-74G>A	F13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271301	NM_000129.4(F13A1):c.319+126C>G	F13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267597	NM_000129.4(F13A1):c.-18-20_-18-18dup	F13A1	Duplication (intron variant)	not provided	GBenign
Select item 1266399	NM_000129.4(F13A1):c.2046-316A>G	F13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264769	NM_000129.4(F13A1):c.1908+70C>T	F13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263025	NM_000129.4(F13A1):c.2045+227A>G	F13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262101	NM_000129.4(F13A1):c.1909-226G>T	F13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261344	NM_000129.4(F13A1):c.319+107G>T	F13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258261	NM_000129.4(F13A1):c.690+77C>T	F13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257747	NM_000129.4(F13A1):c.2045+39G>A	F13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253415	NM_000129.4(F13A1):c.1217-24C>T	F13A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1250927	NM_000129.4(F13A1):c.690+132A>T	F13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247441	NM_000129.4(F13A1):c.1460-125dup	F13A1	Duplication (intron variant)	not provided	GBenign
Select item 1243534	NM_000129.4(F13A1):c.572-342C>T	F13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243390	NC_000006.12:g.6320895T>C	F13A1	Single nucleotide variant	not provided	GBenign
Select item 1242670	NM_000129.4(F13A1):c.1908+130_1908+132del	F13A1	Deletion (intron variant)	not provided	GBenign
Select item 1240446	NM_000129.4(F13A1):c.1113-234A>G	F13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237919	NM_000129.4(F13A1):c.1909-29G>C	F13A1	Single nucleotide variant (intron variant)	Factor XIII, A subunit, deficiency of +1 more	GBenign
Select item 1237804	NM_000129.4(F13A1):c.1747+27C>G	F13A1	Single nucleotide variant (intron variant)	Factor XIII, A subunit, deficiency of +1 more	GBenign
Select item 1231782	NM_000129.4(F13A1):c.1305+104G>A	F13A1	Single nucleotide variant (intron variant)	not provided	GBenign

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