asplenia ocoense - ClinVar - NCBI

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The following term was not found in ClinVar: ocoense.
Showing results for Asplenium ocoense. Your search for Asplenium ocoense retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1335917	NM_001170754.2(C1orf127):c.337C>T (p.Arg113Ter)	C1orf127 (R113*)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 149319	GRCh38/hg38 2p25.3-25.2(chr2:2797196-4697562)x3	ADI1, ALLC +55 more	Copy number gain	See cases	GUncertain significance
Select item 4755	NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter)	ZEB2 (R695* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 152747	GRCh38/hg38 2q24.1-24.2(chr2:158655460-159251819)x3	DAPL1, LOC110121120 +24 more	Copy number gain	See cases	GLikely benign
Select item 403395	NM_002295.6(RPSA):c.-8T>C	RPSA	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 64671	NM_002295.6(RPSA):c.25C>T (p.Gln9Ter)	RPSA (Q9*)	Single nucleotide variant (nonsense)	Familial isolated congenital asplenia	GPathogenic
Select item 1327975	NM_002295.6(RPSA):c.134-32C>T	RPSA	Single nucleotide variant (intron variant)	Familial isolated congenital asplenia +1 more	GBenign
Select item 64676	NM_002295.6(RPSA):c.161C>A (p.Thr54Asn)	RPSA (T54N)	Single nucleotide variant (missense variant)	Familial isolated congenital asplenia	GPathogenic
Select item 64677	NM_002295.6(RPSA):c.172C>T (p.Leu58Phe)	RPSA (L58F)	Single nucleotide variant (missense variant)	Familial isolated congenital asplenia	GPathogenic
Select item 2412689	NM_002295.6(RPSA):c.491A>T (p.Asn164Ile)	RPSA (N169I +1 more)	Single nucleotide variant (missense variant)	Familial isolated congenital asplenia	GUncertain significance
Select item 626159	NM_002295.6(RPSA):c.498+8T>A	RPSA	Single nucleotide variant (intron variant)	Familial isolated congenital asplenia +1 more	GConflicting classifications of pathogenicity
Select item 2671652	NM_002295.6(RPSA):c.508T>G (p.Ser170Ala)	RPSA (S170A +1 more)	Single nucleotide variant (missense variant)	Familial isolated congenital asplenia	GUncertain significance
Select item 403396	NM_002295.6(RPSA):c.519G>A (p.Leu173=)	RPSA	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 64674	NM_002295.6(RPSA):c.538C>T (p.Arg180Trp)	RPSA (R180W +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 64673	NM_002295.6(RPSA):c.538C>G (p.Arg180Gly)	RPSA (R180G +1 more)	Single nucleotide variant (missense variant)	Familial isolated congenital asplenia	GPathogenic
Select item 64675	NM_002295.6(RPSA):c.556C>T (p.Arg186Cys)	RPSA (R186C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 64672	NM_002295.6(RPSA):c.590_594dup (p.Pro199fs)	RPSA (P199fs +1 more)	Duplication (frameshift variant)	Familial isolated congenital asplenia	GPathogenic
Select item 266107	NM_152773.5(DYNLT2B):c.317+4A>T	DYNLT2B	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 17 with or without polydactyly	GPathogenic
Select item 520775	NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter)	DNAH5 (R2639*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 520776	NM_001369.3(DNAH5):c.3598+2T>C	DNAH5	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 39433	NM_004387.4(NKX2-5):c.707C>A (p.Pro236His)	NKX2-5 (P236H)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 454538	NM_001206927.2(DNAH8):c.10773C>G (p.Phe3591Leu)	DNAH8, DNAH8-AS1 (F3591L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 495942	NM_000492.4(CFTR):c.4061T>C (p.Met1354Thr)	CFTR (M1354T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 583141	NM_004959.5(NR5A1):c.1227C>G (p.Tyr409Ter)	NR5A1 (Y409*)	Single nucleotide variant (nonsense)	Oligosynaptic infertility +1 more	GLikely pathogenic
Select item 2444004	NM_018055.5(NODAL):c.1021G>T (p.Val341Leu)	NODAL (V208L +1 more)	Single nucleotide variant (missense variant)	congenital heart defects	GUncertain significance
Select item 8269	NM_018055.5(NODAL):c.778G>A (p.Gly260Arg)	NODAL (G260R +1 more)	Single nucleotide variant (missense variant)	Visceral heterotaxy +4 more	GConflicting classifications of pathogenicity
Select item 665042	NC_000011.10:g.(?_3856251)_(4091818_?)del	LOC112081391, LOC121832782 +13 more	Deletion	Stormorken syndrome +3 more	GPathogenic
Select item 1023359	NM_001382567.1(STIM1):c.4G>A (p.Asp2Asn)	LOC130005165, STIM1 (D2N)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 403496	NM_001382567.1(STIM1):c.7G>A (p.Val3Ile)	LOC130005165, STIM1 (V3I +1 more)	Single nucleotide variant (missense variant +4 more)	Stormorken syndrome +4 more	GUncertain significance
Select item 530876	NM_001382567.1(STIM1):c.9A>G (p.Val3=)	LOC130005165, STIM1 (Y2C)	Single nucleotide variant (synonymous variant +4 more)	Myopathy with tubular aggregates +2 more	GLikely benign
Select item 1327793	NM_001382567.1(STIM1):c.13G>A (p.Val5Ile)	LOC130005165, STIM1 (V5I)	Single nucleotide variant (missense variant +4 more)	Stormorken syndrome +3 more	GUncertain significance
Select item 1972577	NM_001382567.1(STIM1):c.15C>T (p.Val5=)	LOC130005165, STIM1 (S4F)	Single nucleotide variant (synonymous variant +4 more)	Myopathy with tubular aggregates +2 more	GLikely benign
Select item 1718450	NM_001382567.1(STIM1):c.20T>C (p.Leu7Pro)	STIM1 (L7P)	Single nucleotide variant (missense variant +4 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 1035654	NM_001382567.1(STIM1):c.22G>A (p.Ala8Thr)	STIM1 (A8T)	Single nucleotide variant (missense variant +4 more)	Immunodeficiency, common variable, 10 +4 more	GUncertain significance
Select item 2925807	NM_001382567.1(STIM1):c.45CCT[1] (p.Leu17del)	STIM1 (L17del +1 more)	Microsatellite (inframe_deletion +3 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 2926164	NM_001382567.1(STIM1):c.46C>T (p.Leu16Phe)	STIM1 (L16F)	Single nucleotide variant (missense variant +4 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 1474074	NM_001382567.1(STIM1):c.50T>G (p.Leu17Arg)	STIM1 (L17R +1 more)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 1137106	NM_001382567.1(STIM1):c.54C>T (p.His18=)	STIM1 (T17I)	Single nucleotide variant (synonymous variant +4 more)	Myopathy with tubular aggregates +2 more	GLikely benign
Select item 461736	NM_001382567.1(STIM1):c.57G>C (p.Gln19His)	STIM1 (Q19H +1 more)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 1524986	NM_001382567.1(STIM1):c.58G>A (p.Gly20Ser)	STIM1 (G20S)	Single nucleotide variant (missense variant +4 more)	Combined immunodeficiency due to STIM1 deficiency +3 more	GUncertain significance
Select item 1426521	NM_001382567.1(STIM1):c.62A>G (p.Gln21Arg)	STIM1 (Q21R +1 more)	Single nucleotide variant (intron variant +3 more)	Combined immunodeficiency due to STIM1 deficiency +3 more	GUncertain significance
Select item 2932746	NM_001382567.1(STIM1):c.64A>G (p.Ser22Gly)	STIM1 (S22G)	Single nucleotide variant (missense variant +4 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2954346	NM_001382567.1(STIM1):c.67C>T (p.Leu23Phe)	STIM1 (L23F)	Single nucleotide variant (missense variant +4 more)	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 2941846	NM_001382567.1(STIM1):c.68T>A (p.Leu23His)	STIM1 (L23H +1 more)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 1585797	NM_001382567.1(STIM1):c.69C>T (p.Leu23=)	STIM1 (S22L)	Single nucleotide variant (synonymous variant +4 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 2946366	NM_001382567.1(STIM1):c.79C>G (p.His27Asp)	STIM1 (H27D)	Single nucleotide variant (missense variant +4 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 942226	NM_001382567.1(STIM1):c.81C>A (p.His27Gln)	STIM1 (H27Q +1 more)	Single nucleotide variant (missense variant +3 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 1046761	NM_001382567.1(STIM1):c.91G>C (p.Ala31Pro)	STIM1 (A31P +1 more)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +3 more	GUncertain significance
Select item 2067637	NM_001382567.1(STIM1):c.92C>T (p.Ala31Val)	STIM1 (A31V +1 more)	Single nucleotide variant (missense variant +4 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1713281	NM_001382567.1(STIM1):c.98G>A (p.Gly33Glu)	STIM1 (E32K +1 more)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 572800	NM_001382567.1(STIM1):c.100A>T (p.Thr34Ser)	STIM1 (T34S +1 more)	Single nucleotide variant (missense variant +3 more)	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 2951979	NM_001382567.1(STIM1):c.101C>G (p.Thr34Ser)	STIM1 (T34S +1 more)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 1402094	NM_001382567.1(STIM1):c.101C>T (p.Thr34Ile)	STIM1 (T34I +1 more)	Single nucleotide variant (missense variant +3 more)	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 706295	NM_001382567.1(STIM1):c.105C>T (p.Ser35=)	STIM1 (A34V)	Single nucleotide variant (synonymous variant +4 more)	not provided +3 more	GLikely benign
Select item 2942925	NM_001382567.1(STIM1):c.107C>G (p.Ser36Trp)	STIM1 (R35G +1 more)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 931672	NM_001382567.1(STIM1):c.107C>T (p.Ser36Leu)	STIM1 (R35W +1 more)	Single nucleotide variant (missense variant +3 more)	Combined immunodeficiency due to STIM1 deficiency +3 more	GUncertain significance
Select item 1662168	NM_001382567.1(STIM1):c.108G>C (p.Ser36=)	STIM1 (R35P)	Single nucleotide variant (synonymous variant +4 more)	Stormorken syndrome +2 more	GLikely benign
Select item 1657616	NM_001382567.1(STIM1):c.108G>A (p.Ser36=)	STIM1 (R35Q)	Single nucleotide variant (synonymous variant +4 more)	Stormorken syndrome +2 more	GLikely benign
Select item 1002634	NM_001382567.1(STIM1):c.110G>C (p.Gly37Ala)	STIM1 (G36R +1 more)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 719609	NM_001382567.1(STIM1):c.111G>A (p.Gly37=)	STIM1 (G36E)	Single nucleotide variant (synonymous variant +4 more)	Stormorken syndrome +2 more	GBenign
Select item 2930879	NM_001382567.1(STIM1):c.112G>A (p.Ala38Thr)	STIM1 (A38T)	Single nucleotide variant (missense variant +4 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 258968	NM_001382567.1(STIM1):c.114C>G (p.Ala38=)	STIM1 (P37R)	Single nucleotide variant (synonymous variant +4 more)	not specified +4 more	GLikely benign
Select item 1475505	NM_001382567.1(STIM1):c.116A>G (p.Asn39Ser)	STIM1 (N39S +1 more)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 1352761	NM_001382567.1(STIM1):c.124G>A (p.Glu42Lys)	STIM1 (E42K)	Single nucleotide variant (missense variant +4 more)	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 1464891	NM_001382567.1(STIM1):c.127T>C (p.Ser43Pro)	STIM1 (S43P)	Single nucleotide variant (missense variant +4 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 2089137	NM_001382567.1(STIM1):c.129C>T (p.Ser43=)	STIM1 (P42L)	Single nucleotide variant (synonymous variant +4 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2167927	NM_001382567.1(STIM1):c.134C>G (p.Ala45Gly)	STIM1 (A45G +1 more)	Single nucleotide variant (missense variant +3 more)	Combined immunodeficiency due to STIM1 deficiency +3 more	GUncertain significance
Select item 950049	NM_001382567.1(STIM1):c.139+4A>G	STIM1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 530882	NM_001382567.1(STIM1):c.139+6G>A	STIM1	Single nucleotide variant (intron variant)	Myopathy with tubular aggregates +2 more	GLikely benign
Select item 1545401	NM_001382567.1(STIM1):c.139+7C>A	STIM1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 1570747	NM_001382567.1(STIM1):c.139+13T>A	STIM1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 1571999	NM_001382567.1(STIM1):c.139+16G>A	STIM1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 2170381	NM_001382567.1(STIM1):c.140-16T>G	STIM1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 1661732	NM_001382567.1(STIM1):c.140-15G>C	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GLikely benign
Select item 2924799	NM_001382567.1(STIM1):c.140-9C>T	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GLikely benign
Select item 2933355	NM_001382567.1(STIM1):c.140-5C>T	STIM1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2951479	NM_001382567.1(STIM1):c.143T>A (p.Phe48Tyr)	STIM1 (F48Y)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 645596	NM_001382567.1(STIM1):c.146G>A (p.Cys49Tyr)	STIM1 (C49Y)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 568734	NM_001382567.1(STIM1):c.149G>A (p.Arg50Gln)	STIM1 (R50Q)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2943919	NM_001382567.1(STIM1):c.160C>A (p.Pro54Thr)	STIM1 (P54T)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 1452705	NM_001382567.1(STIM1):c.163_164del (p.Leu55fs)	STIM1 (L55fs)	Deletion (frameshift variant +3 more)	Stormorken syndrome +2 more	GPathogenic
Select item 706287	NM_001382567.1(STIM1):c.177G>A (p.Glu59=)	STIM1	Single nucleotide variant (synonymous variant +3 more)	Stormorken syndrome +2 more	GLikely benign
Select item 663469	NM_001382567.1(STIM1):c.182A>G (p.Glu61Gly)	STIM1 (E61G)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 1125568	NM_001382567.1(STIM1):c.192C>T (p.Ser64=)	STIM1	Single nucleotide variant (synonymous variant +3 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 2063784	NM_001382567.1(STIM1):c.195C>T (p.Phe65=)	STIM1	Single nucleotide variant (synonymous variant +3 more)	Stormorken syndrome +2 more	GLikely benign
Select item 666040	NM_001382567.1(STIM1):c.196G>A (p.Glu66Lys)	STIM1 (E66K)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2921713	NM_001382567.1(STIM1):c.199G>A (p.Ala67Thr)	STIM1 (A67T)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 704895	NM_001382567.1(STIM1):c.201A>G (p.Ala67=)	STIM1	Single nucleotide variant (synonymous variant +3 more)	not provided +3 more	GBenign/Likely benign
Select item 952024	NM_001382567.1(STIM1):c.205C>T (p.Arg69Cys)	STIM1 (R69C)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2950825	NM_001382567.1(STIM1):c.206G>A (p.Arg69His)	STIM1 (R69H)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2932677	NM_001382567.1(STIM1):c.218A>G (p.Lys73Arg)	STIM1 (K73R)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 766387	NM_001382567.1(STIM1):c.228C>T (p.Asp76=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 461731	NM_001382567.1(STIM1):c.234T>C (p.Asp78=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GBenign
Select item 1499307	NM_001382567.1(STIM1):c.238A>G (p.Asn80Asp)	STIM1 (N80D +1 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 849947	NM_001382567.1(STIM1):c.239A>G (p.Asn80Ser)	STIM1 (N80S +1 more)	Single nucleotide variant (missense variant +2 more)	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 189363	NM_001382567.1(STIM1):c.239A>C (p.Asn80Thr)	STIM1 (N80T +1 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely pathogenic
Select item 2936337	NM_001382567.1(STIM1):c.240T>C (p.Asn80=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2937591	NM_001382567.1(STIM1):c.246T>C (p.Asp82=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2506361	NM_001382567.1(STIM1):c.251A>C (p.Asp84Ala)	STIM1 (D10A +1 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome	GLikely pathogenic
Select item 1395833	NM_001382567.1(STIM1):c.262A>G (p.Ser88Gly)	STIM1 (S14G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GLikely pathogenic

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