14,14-Diethoxy-5-tetradecyne - ClinVar - NCBI

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The following terms were not found in ClinVar: Diethoxy, tetradecyne.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2471734	NM_021170.4(HES4):c.14C>G (p.Thr5Arg)	HES4, LOC129929070 (T5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358679	NM_001146685.2(TMEM88B):c.14G>C (p.Gly5Ala)	TMEM88B (G5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 830327	NM_022834.5(VWA1):c.62_71dup (p.Gly25fs)	VWA1 (G25fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2499671	NM_001170535.3(ATAD3A):c.1373A>C (p.Gln458Pro)	ATAD3A (Q379P +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 2612496	NM_023018.5(NADK):c.1304A>G (p.His435Arg)	NADK (H580R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521759	NM_023018.5(NADK):c.1285G>A (p.Val429Ile)	NADK (V429I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273100	NM_023018.5(NADK):c.1268A>G (p.Gln423Arg)	NADK (Q336R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173102	NM_023018.5(NADK):c.1231C>T (p.Arg411Trp)	NADK (R324W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546776	NM_023018.5(NADK):c.1220C>T (p.Ser407Phe)	NADK (S552F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1562666	NM_002074.5(GNB1):c.402C>T (p.Arg134=)	GNB1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 2402484	NM_178545.4(TMEM52):c.14C>A (p.Pro5Gln)	TMEM52 (P5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318700	NM_003036.4(SKI):c.14C>G (p.Ala5Gly)	SKI (A5G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3220090	NM_152371.5(PRXL2B):c.-51G>T	PRXL2B	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3018725	NM_015102.5(NPHP4):c.2026_2027del (p.Pro676fs)	NPHP4 (P164fs +2 more)	Deletion (frameshift variant +1 more)	Nephronophthisis	GPathogenic
Select item 3201653	NM_015102.5(NPHP4):c.1891C>G (p.Gln631Glu)	NPHP4 (Q119E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 501365	NM_015102.5(NPHP4):c.1850C>T (p.Ala617Val)	NPHP4 (A617V +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +5 more	GUncertain significance
Select item 1008838	NM_015102.5(NPHP4):c.1844A>G (p.Gln615Arg)	NPHP4 (Q102R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 876130	NM_015102.5(NPHP4):c.1781C>T (p.Ser594Leu)	NPHP4 (S81L +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +4 more	GUncertain significance
Select item 840593	NM_015102.5(NPHP4):c.1663C>G (p.Gln555Glu)	NPHP4 (Q42E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2539307	NM_007274.4(ACOT7):c.143+7604C>T	ACOT7 (A5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1160373	NM_020631.6(PLEKHG5):c.1543-5C>T	PLEKHG5	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 426685	NM_015215.4(CAMTA1):c.627del (p.Lys208_Trp209insTer)	CAMTA1	Deletion (nonsense)	not provided	GPathogenic
Select item 1138980	NM_005026.5(PIK3CD):c.4C>A (p.Pro2Thr)	PIK3CD (P2T)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GLikely benign
Select item 943206	NM_005026.5(PIK3CD):c.5C>T (p.Pro2Leu)	PIK3CD (P2L)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 751906	NM_005026.5(PIK3CD):c.6C>T (p.Pro2=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1384937	NM_005026.5(PIK3CD):c.8C>T (p.Pro3Leu)	PIK3CD (P3L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2880397	NM_005026.5(PIK3CD):c.12G>T (p.Gly4=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2180356	NM_005026.5(PIK3CD):c.12G>A (p.Gly4=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1019034	NM_005026.5(PIK3CD):c.17A>C (p.Asp6Ala)	PIK3CD (D6A)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1011232	NM_005026.5(PIK3CD):c.17A>G (p.Asp6Gly)	PIK3CD (D6G)	Single nucleotide variant (missense variant)	Immunodeficiency 14 +1 more	GUncertain significance
Select item 749014	NM_005026.5(PIK3CD):c.24C>A (p.Pro8=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2146657	NM_005026.5(PIK3CD):c.30A>C (p.Glu10Asp)	PIK3CD (E10D)	Single nucleotide variant (missense variant)	Immunodeficiency 14 +1 more	GUncertain significance
Select item 1106990	NM_005026.5(PIK3CD):c.39C>G (p.Thr13=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 966147	NM_005026.5(PIK3CD):c.41A>C (p.Lys14Thr)	PIK3CD (K14T)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1161080	NM_005026.5(PIK3CD):c.57C>T (p.Ser19=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1359338	NM_005026.5(PIK3CD):c.58G>A (p.Val20Ile)	PIK3CD (V20I)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1352150	NM_005026.5(PIK3CD):c.62T>C (p.Val21Ala)	PIK3CD (V21A)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2170085	NM_005026.5(PIK3CD):c.69C>T (p.Asp23=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2027690	NM_005026.5(PIK3CD):c.75G>C (p.Leu25=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1544902	NM_005026.5(PIK3CD):c.76C>T (p.Leu26=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1088925	NM_005026.5(PIK3CD):c.84A>G (p.Thr28=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2191477	NM_005026.5(PIK3CD):c.87G>C (p.Gly29=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2101052	NM_005026.5(PIK3CD):c.99C>T (p.Asn33=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2849187	NM_005026.5(PIK3CD):c.104_105del (p.Pro35fs)	PIK3CD (P35fs)	Deletion (frameshift variant)	Immunodeficiency 14	GUncertain significance
Select item 1659822	NM_005026.5(PIK3CD):c.105T>G (p.Pro35=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2863729	NM_005026.5(PIK3CD):c.112C>A (p.Arg38Ser)	PIK3CD (R38S)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 657939	NM_005026.5(PIK3CD):c.112C>T (p.Arg38Cys)	PIK3CD (R38C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2110452	NM_005026.5(PIK3CD):c.113G>T (p.Arg38Leu)	PIK3CD (R38L)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 720282	NM_005026.5(PIK3CD):c.114C>T (p.Arg38=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 943205	NM_005026.5(PIK3CD):c.121A>C (p.Asn41His)	PIK3CD (N41H)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 745703	NM_005026.5(PIK3CD):c.138G>A (p.Lys46=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 652075	NM_005026.5(PIK3CD):c.141+3A>G	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GUncertain significance
Select item 1623771	NM_005026.5(PIK3CD):c.141+13T>C	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1146480	NM_005026.5(PIK3CD):c.141+15C>T	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1427611	NM_005026.5(PIK3CD):c.141+16G>A	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1090412	NM_005026.5(PIK3CD):c.142-18C>T	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1931027	NM_005026.5(PIK3CD):c.142-17G>A	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 1539127	NM_005026.5(PIK3CD):c.142-12C>T	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GBenign
Select item 2080737	NM_005026.5(PIK3CD):c.142-7C>T	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign
Select item 653557	NM_005026.5(PIK3CD):c.142-3C>T	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GUncertain significance
Select item 965978	NM_005026.5(PIK3CD):c.155G>A (p.Arg52His)	PIK3CD (R52H)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 734542	NM_005026.5(PIK3CD):c.156C>T (p.Arg52=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2711850	NM_005026.5(PIK3CD):c.163T>G (p.Tyr55Asp)	PIK3CD (Y55D)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2093272	NM_005026.5(PIK3CD):c.164A>G (p.Tyr55Cys)	PIK3CD (Y55C)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2167600	NM_005026.5(PIK3CD):c.165T>C (p.Tyr55=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1500652	NM_005026.5(PIK3CD):c.171_178del (p.Leu58fs)	PIK3CD (L58fs)	Deletion (frameshift variant)	Immunodeficiency 14	GUncertain significance
Select item 1135386	NM_005026.5(PIK3CD):c.171G>T (p.Pro57=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1111187	NM_005026.5(PIK3CD):c.171G>A (p.Pro57=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1116651	NM_005026.5(PIK3CD):c.186C>G (p.Leu62=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2985666	NM_005026.5(PIK3CD):c.192C>A (p.Gly64=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1939924	NM_005026.5(PIK3CD):c.195C>T (p.Pro65=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GUncertain significance
Select item 1654429	NM_005026.5(PIK3CD):c.195C>G (p.Pro65=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1996731	NM_005026.5(PIK3CD):c.210C>T (p.Phe70=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GUncertain significance
Select item 963563	NM_005026.5(PIK3CD):c.221A>G (p.Asn74Ser)	PIK3CD (N74S)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2163051	NM_005026.5(PIK3CD):c.230C>T (p.Ala77Val)	PIK3CD (A77V)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 618791	NM_005026.5(PIK3CD):c.231G>A (p.Ala77=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14 +1 more	GLikely benign
Select item 1090892	NM_005026.5(PIK3CD):c.234G>A (p.Glu78=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 541084	NM_005026.5(PIK3CD):c.236_237del (p.Gln79fs)	PIK3CD (Q79fs)	Deletion (frameshift variant)	Immunodeficiency 14	GUncertain significance
Select item 1166707	NM_005026.5(PIK3CD):c.252C>T (p.Asp84=)	PIK3CD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1013936	NM_005026.5(PIK3CD):c.259C>T (p.Arg87Trp)	PIK3CD (R87W)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2132757	NM_005026.5(PIK3CD):c.261G>A (p.Arg87=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1496218	NM_005026.5(PIK3CD):c.262C>T (p.Arg88Cys)	PIK3CD (R88C)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1585711	NM_005026.5(PIK3CD):c.291C>T (p.Pro97=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2083201	NM_005026.5(PIK3CD):c.295C>T (p.Leu99=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1116708	NM_005026.5(PIK3CD):c.300C>A (p.Arg100=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1487069	NM_005026.5(PIK3CD):c.304G>A (p.Val102Met)	PIK3CD (V102M)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2630878	NM_005026.5(PIK3CD):c.307G>A (p.Ala103Thr)	PIK3CD (A103T)	Single nucleotide variant (missense variant)	Immunodeficiency 14 +1 more	GUncertain significance
Select item 1905851	NM_005026.5(PIK3CD):c.310C>T (p.Arg104Cys)	PIK3CD (R104C)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1542466	NM_005026.5(PIK3CD):c.321C>T (p.Asp107=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1338106	NM_005026.5(PIK3CD):c.322C>T (p.Arg108Cys)	PIK3CD (R108C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 636973	NM_005026.5(PIK3CD):c.323G>T (p.Arg108Leu)	PIK3CD (R108L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1158553	NM_005026.5(PIK3CD):c.324C>T (p.Arg108=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 1351534	NM_005026.5(PIK3CD):c.328A>C (p.Lys110Gln)	PIK3CD (K110Q)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1000036	NM_005026.5(PIK3CD):c.337A>G (p.Ile113Val)	PIK3CD (I113V)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 2808180	NM_005026.5(PIK3CD):c.342C>G (p.Asn114Lys)	PIK3CD (N114K)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 735221	NM_005026.5(PIK3CD):c.342C>T (p.Asn114=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GBenign
Select item 1122436	NM_005026.5(PIK3CD):c.357C>T (p.Leu119=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2173538	NM_005026.5(PIK3CD):c.360C>G (p.Leu120=)	PIK3CD	Single nucleotide variant (synonymous variant)	Immunodeficiency 14	GLikely benign
Select item 2908038	NM_005026.5(PIK3CD):c.364G>A (p.Gly122Ser)	PIK3CD (G122S)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 1656710	NM_005026.5(PIK3CD):c.370+11C>T	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14	GLikely benign

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