ClinVar for Gene (Select 2982) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235952	GRCh38/hg38 4q31.3-32.1(chr4:153986026-156952467)	ASIC5, CTSO +45 more	Copy number loss	not provided	GUncertain significance
Select item 3103278	NM_001130682.3(GUCY1A1):c.93G>T (p.Glu31Asp)	GUCY1A1 (E31D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103277	NM_001130682.3(GUCY1A1):c.935G>A (p.Arg312Lys)	GUCY1A1 (R143K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103276	NM_001130682.3(GUCY1A1):c.82G>A (p.Glu28Lys)	GUCY1A1 (E28K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103275	NM_001130682.3(GUCY1A1):c.759G>C (p.Leu253Phe)	GUCY1A1 (L18F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103273	NM_001130682.3(GUCY1A1):c.526T>G (p.Cys176Gly)	GUCY1A1 (C176G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3103272	NM_001130682.3(GUCY1A1):c.391G>T (p.Val131Phe)	GUCY1A1 (V131F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3103271	NM_001130682.3(GUCY1A1):c.28A>C (p.Lys10Gln)	GUCY1A1 (K10Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103270	NM_001130682.3(GUCY1A1):c.272T>C (p.Val91Ala)	GUCY1A1 (V91A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103269	NM_001130682.3(GUCY1A1):c.2015A>G (p.Lys672Arg)	GUCY1A1 (K503R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103267	NM_001130682.3(GUCY1A1):c.1952C>G (p.Pro651Arg)	GUCY1A1 (P482R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103266	NM_001130682.3(GUCY1A1):c.1826C>T (p.Ser609Phe)	GUCY1A1 (S374F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103265	NM_001130682.3(GUCY1A1):c.1799A>G (p.Asn600Ser)	GUCY1A1 (N365S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103264	NM_001130682.3(GUCY1A1):c.1777C>T (p.Arg593Cys)	GUCY1A1 (R424C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103263	NM_001130682.3(GUCY1A1):c.1643A>G (p.Gln548Arg)	GUCY1A1 (Q313R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103262	NM_001130682.3(GUCY1A1):c.1621G>A (p.Glu541Lys)	GUCY1A1 (E306K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103261	NM_001130682.3(GUCY1A1):c.1600G>A (p.Val534Ile)	GUCY1A1 (V534I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103260	NM_001130682.3(GUCY1A1):c.1474G>A (p.Ala492Thr)	GUCY1A1 (A492T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103259	NM_001130682.3(GUCY1A1):c.127A>G (p.Thr43Ala)	GUCY1A1 (T43A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103258	NM_001130682.3(GUCY1A1):c.1124A>C (p.Glu375Ala)	GUCY1A1 (E140A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103257	NM_001130682.3(GUCY1A1):c.1102G>A (p.Gly368Ser)	GUCY1A1 (G199S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3062761	GRCh37/hg19 4q32.1(chr4:156505079-156705026)x1	GUCY1A1, GUCY1B1	Copy number loss	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 3023924	NM_001130682.3(GUCY1A1):c.1848C>T (p.Ile616=)	GUCY1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3023246	NM_001130682.3(GUCY1A1):c.255+20A>T	GUCY1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3023212	NM_001130682.3(GUCY1A1):c.1716+13A>T	GUCY1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994864	NM_001130682.3(GUCY1A1):c.673G>A (p.Val225Ile)	GUCY1A1 (V225I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2974469	NM_001130682.3(GUCY1A1):c.255+9G>A	GUCY1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957056	NM_001130682.3(GUCY1A1):c.1086+20A>G	GUCY1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2886407	NM_001130682.3(GUCY1A1):c.600A>G (p.Leu200=)	GUCY1A1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2781860	NM_001130682.3(GUCY1A1):c.1593C>T (p.Ala531=)	GUCY1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776280	NM_001130682.3(GUCY1A1):c.377-12A>G	GUCY1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2734678	NM_001130682.3(GUCY1A1):c.686C>T (p.Thr229Met)	GUCY1A1 (T229M)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2729462	NM_001130682.3(GUCY1A1):c.129C>T (p.Thr43=)	GUCY1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2720414	NM_001130682.3(GUCY1A1):c.376+17T>A	GUCY1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 2622841	NM_001130682.3(GUCY1A1):c.545G>A (p.Arg182Lys)	GUCY1A1 (R182K)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2620706	NM_001130682.3(GUCY1A1):c.386T>C (p.Val129Ala)	GUCY1A1 (V129A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2619598	NM_001130682.3(GUCY1A1):c.883G>T (p.Asp295Tyr)	GUCY1A1 (D60Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616365	NM_001130682.3(GUCY1A1):c.782G>A (p.Ser261Asn)	GUCY1A1 (S261N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611062	NM_001130682.3(GUCY1A1):c.196C>T (p.Arg66Trp)	GUCY1A1 (R66W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603734	NM_001130682.3(GUCY1A1):c.1283G>C (p.Arg428Thr)	GUCY1A1 (R193T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600454	NM_001130682.3(GUCY1A1):c.197G>A (p.Arg66Gln)	GUCY1A1 (R66Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597212	NM_001130682.3(GUCY1A1):c.269A>C (p.Asn90Thr)	GUCY1A1 (N90T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553078	NM_001130682.3(GUCY1A1):c.1187G>A (p.Arg396Gln)	GUCY1A1 (R161Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551844	NM_001130682.3(GUCY1A1):c.1295T>C (p.Leu432Pro)	GUCY1A1 (L432P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543330	NM_001130682.3(GUCY1A1):c.338A>C (p.Asp113Ala)	GUCY1A1 (D113A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487334	NM_001130682.3(GUCY1A1):c.1522G>A (p.Ala508Thr)	GUCY1A1 (A273T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472010	NM_001130682.3(GUCY1A1):c.1959C>G (p.Ile653Met)	GUCY1A1 (I653M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470118	NM_001130682.3(GUCY1A1):c.1031T>C (p.Met344Thr)	GUCY1A1 (M109T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464331	NM_001130682.3(GUCY1A1):c.720C>G (p.Phe240Leu)	GUCY1A1 (F240L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2423426	NC_000004.11:g.(?_156618020)_(156651383_?)del	GUCY1A1	Deletion	not provided	GPathogenic
Select item 2416649	NM_001130682.3(GUCY1A1):c.548G>C (p.Gly183Ala)	GUCY1A1 (G183A)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2174747	NM_001130682.3(GUCY1A1):c.108C>T (p.Ser36=)	GUCY1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2135365	NM_001130682.3(GUCY1A1):c.1829G>A (p.Cys610Tyr)	GUCY1A1 (C441Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2071102	NM_001130682.3(GUCY1A1):c.1897G>A (p.Val633Met)	GUCY1A1 (R581H +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2057091	NM_001130682.3(GUCY1A1):c.1896C>T (p.Phe632=)	GUCY1A1 (R581C)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1969015	NM_001130682.3(GUCY1A1):c.1972G>A (p.Asp658Asn)	GUCY1A1 (D658N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1807979	GRCh37/hg19 4q32.1(chr4:156496867-156951937)x1	ASIC5, CTSO +3 more	Copy number loss	not provided	GUncertain significance
Select item 1703698	NM_001130682.3(GUCY1A1):c.1422del (p.Lys475fs)	GUCY1A1 (K240fs +2 more)	Deletion (frameshift variant)	Moyamoya disease with early-onset achalasia	GPathogenic
Select item 1699541	NM_001130682.3(GUCY1A1):c.1540G>A (p.Asp514Asn)	GUCY1A1 (D514N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1633619	NM_001130682.3(GUCY1A1):c.1087-14C>A	GUCY1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1613866	NM_001130682.3(GUCY1A1):c.1572+574G>A	GUCY1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1604643	NM_001130682.3(GUCY1A1):c.36A>G (p.Thr12=)	GUCY1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1600192	NM_001130682.3(GUCY1A1):c.170A>C (p.Glu57Ala)	GUCY1A1 (E57A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1598603	NM_001130682.3(GUCY1A1):c.525T>C (p.His175=)	GUCY1A1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1579498	NM_001130682.3(GUCY1A1):c.1911A>T (p.Arg637=)	GUCY1A1 (I586F)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1554485	NM_001130682.3(GUCY1A1):c.1717-7C>A	GUCY1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1548259	NM_001130682.3(GUCY1A1):c.1717-14T>A	GUCY1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1527132	GRCh37/hg19 4q32.1(chr4:156496866-156956631)	ASIC5, CTSO +3 more	Copy number loss	not specified	GUncertain significance
Select item 1480589	NM_001130682.3(GUCY1A1):c.649G>A (p.Gly217Ser)	GUCY1A1 (G217S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1437310	NM_001130682.3(GUCY1A1):c.1135A>G (p.Ile379Val)	GUCY1A1 (I210V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1432946	NM_001130682.3(GUCY1A1):c.1534C>T (p.Arg512Cys)	GUCY1A1 (R277C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1323042	NM_001130682.3(GUCY1A1):c.1086+1G>T	GUCY1A1	Single nucleotide variant (splice donor variant)	Moyamoya disease with early-onset achalasia	GPathogenic
Select item 1285312	NM_001130682.3(GUCY1A1):c.1074A>G (p.Lys358=)	GUCY1A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 1032479	NM_001130682.3(GUCY1A1):c.630C>T (p.Thr210=)	GUCY1A1	Single nucleotide variant (synonymous variant +2 more)	Moyamoya disease with early-onset achalasia +1 more	GConflicting classifications of pathogenicity
Select item 1031673	NM_001130682.3(GUCY1A1):c.1535G>A (p.Arg512His)	GUCY1A1 (R343H +2 more)	Single nucleotide variant (missense variant)	Moyamoya disease with early-onset achalasia	GUncertain significance
Select item 982720	NM_001130682.3(GUCY1A1):c.1687G>A (p.Val563Ile)	GUCY1A1 (V328I +2 more)	Single nucleotide variant (missense variant)	Moyamoya disease with early-onset achalasia	GUncertain significance
Select item 814618	GRCh37/hg19 4q32.1(chr4:156578400-158404825)x1	GRIA2, GUCY1B1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 814616	GRCh37/hg19 4q31.3-32.1(chr4:153061243-157994448)x1	PLRG1, CTSO +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 794574	NM_001130682.3(GUCY1A1):c.1488G>A (p.Gln496=)	GUCY1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790313	NM_001130682.3(GUCY1A1):c.1437T>C (p.Asn479=)	GUCY1A1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 780510	NM_001130682.3(GUCY1A1):c.1650G>A (p.Ala550=)	GUCY1A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776027	NM_001130682.3(GUCY1A1):c.366A>G (p.Ala122=)	GUCY1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 745974	NM_001130682.3(GUCY1A1):c.1734C>T (p.His578=)	GUCY1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 732167	NM_001130682.3(GUCY1A1):c.1863A>G (p.Thr621=)	GUCY1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 727091	NM_001130682.3(GUCY1A1):c.12G>A (p.Thr4=)	GUCY1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 721688	NM_001130682.3(GUCY1A1):c.390G>A (p.Glu130=)	GUCY1A1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 715600	NM_001130682.3(GUCY1A1):c.73G>A (p.Val25Ile)	GUCY1A1 (V25I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 711123	NM_001130682.3(GUCY1A1):c.822G>A (p.Ser274=)	GUCY1A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688826	GRCh37/hg19 4q32.1(chr4:156496866-156952792)x1	ASIC5, CTSO +3 more	Copy number loss	not provided	GUncertain significance
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 687887	GRCh37/hg19 4q31.3-32.1(chr4:154907679-159012980)x1	ASIC5, CTSO +15 more	Copy number loss	not provided	GUncertain significance
Select item 685696	GRCh37/hg19 4q32.1(chr4:156610216-156842193)x3	ASIC5, GUCY1A1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562985	GRCh37/hg19 4q31.3-32.1(chr4:154763131-158404825)x1	MAP9, LRAT +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 559599	NM_001130682.3(GUCY1A1):c.1954G>T (p.Gly652Ter)	GUCY1A1 (G652* +1 more)	Single nucleotide variant (nonsense)	Moyamoya disease with early-onset achalasia	GPathogenic

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