cava the otuhanica - ClinVar

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Items: 69

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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1335917	NM_001170754.2(C1orf127):c.337C>T (p.Arg113Ter)	C1orf127 (R113*)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 986287	NM_005850.5(SF3B4):c.1163del (p.Pro388fs)	SF3B4 (P388fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 183410	NM_006912.6(RIT1):c.251C>T (p.Ala84Val)	RIT1 (A84V +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome +3 more	GPathogenic/Likely pathogenic
Select item 655	NM_000130.5(F5):c.1160T>C (p.Ile387Thr)	F5 (I387T)	Single nucleotide variant (missense variant)	Thrombophilia due to activated protein C resistance	GPathogenic
Select item 18034	NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe)	SERPINC1 (L131F +2 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenic FDA Recognized database
Select item 7639	NM_003240.5(LEFTY2):c.940C>T (p.Arg314Ter)	LEFTY2 (R314* +1 more)	Single nucleotide variant (nonsense)	Left-right axis malformations	GUncertain significance
Select item 1311183	NM_015662.3(IFT172):c.39+5G>A	IFT172	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 985196	NM_014014.5(SNRNP200):c.1967C>T (p.Pro656Leu)	SNRNP200 (P656L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 218339	NM_000965.5(RARB):c.638T>C (p.Leu213Pro)	RARB (L213P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 6858	NM_001106.4(ACVR2B):c.119G>A (p.Arg40His)	ACVR2B (R40H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 423924	NM_000335.5(SCN5A):c.2077C>T (p.Arg693Cys)	SCN5A (R693C)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +10 more	GUncertain significance
Select item 804171	NM_153717.3(EVC):c.758C>G (p.Ser253Ter)	EVC (S253*)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GPathogenic
Select item 804172	NM_153717.3(EVC):c.2376del (p.Tyr793fs)	EVC (Y793fs)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GPathogenic
Select item 443059	GRCh37/hg19 4q32.3(chr4:164801123-165481802)x3	ANP32C, MARCHF1	Copy number gain	See cases	GUncertain significance
Select item 929445	NM_001369.3(DNAH5):c.11028+5G>A	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3 +1 more	GUncertain significance
Select item 65636	NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)	DNAH5 (P3606fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 488784	NM_194454.3(KRIT1):c.690C>G (p.Tyr230Ter)	KRIT1 (Y230*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 30098	NM_001308093.3(GATA4):c.889G>T (p.Gly297Cys)	GATA4 (G296C +2 more)	Single nucleotide variant (missense variant +1 more)	Atrial septal defect 2	GPathogenic
Select item 50853	NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln)	GNAQ (R183Q)	Single nucleotide variant (missense variant)	Capillary malformation +7 more	GPathogenic/Likely pathogenic OOncogenic
Select item 520027	NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met)	NOTCH1 (V1739M)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +7 more	GConflicting classifications of pathogenicity
Select item 432678	NM_000141.5(FGFR2):c.149A>T (p.Tyr50Phe)	FGFR2 (Y50F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3148909	GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3	ADARB2, AKR1C1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 3148908	GRCh37/hg19 10p15.3(chr10:100048-1247374)x1	ADARB2, DIP2C +6 more	Copy number loss	See cases	GPathogenic
Select item 53018	NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)	KCNQ1 (R594Q +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +9 more	GPathogenic/Likely pathogenic
Select item 15514	NM_000518.5(HBB):c.-140C>T	HBB, LOC106099062 +1 more	Single nucleotide variant	beta Thalassemia +3 more	GPathogenic/Likely pathogenic
Select item 635274	NM_001127392.3(MYRF):c.3118A>G (p.Arg1040Gly)	MYRF (R1040G +1 more)	Single nucleotide variant (missense variant)	Cardiac-urogenital syndrome	GPathogenic
Select item 142068	NM_003002.4(SDHD):c.155C>A (p.Ser52Ter)	SDHD (S52*)	Single nucleotide variant (nonsense +2 more)	Cowden syndrome 3 +4 more	GPathogenic
Select item 992642	NM_003482.4(KMT2D):c.10394del (p.Gly3465fs)	KMT2D (G3465fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 520531	NM_002471.4(MYH6):c.5594G>A (p.Arg1865Gln)	MYH6 (R1865Q)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +7 more	GUncertain significance
Select item 441832	GRCh37/hg19 15q26.3(chr15:100614375-100911698)x1	ADAMTS17	Copy number loss	See cases	GLikely benign
Select item 375271	NM_133450.4(ANKS3):c.439C>A (p.His147Asn)	ANKS3 (H147N +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 135628	NM_005901.6(SMAD2):c.822G>C (p.Trp274Cys)	SMAD2 (W244C +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 8, with or without heterotaxy	GPathogenic
Select item 6747	NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)	CERS1, GDF1 +1 more (C227*)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-RELATED DISORDERS +3 more	GPathogenic/Likely pathogenic
Select item 177694	NM_000363.5(TNNI3):c.592C>G (p.Leu198Val)	TNNI3 (L198V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GLikely pathogenic
Select item 1684393	NM_030773.4(TUBB1):c.423G>A (p.Gly141=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 986239	NM_001347721.2(DYRK1A):c.121A>G (p.Ser41Gly)	DYRK1A (S12G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1917290	NM_006031.6(PCNT):c.8960G>A (p.Arg2987Gln)	PCNT (R2790Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 986240	NM_015330.6(SPECC1L):c.1208T>G (p.Met403Arg)	SPECC1L, SPECC1L-ADORA2A (M403R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 636284	GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1	C22orf39, CDC45 +47 more	Copy number loss	Velocardiofacial syndrome +1 more	GPathogenic
Select item 986344	NM_005676.5(RBM10):c.117_132del (p.Met39fs)	RBM10 (M104fs +1 more)	Deletion (frameshift variant)	TARP syndrome	GLikely pathogenic
Select item 2505113	NM_005676.5(RBM10):c.121_124dup (p.Arg42fs)	RBM10 (R107fs +1 more)	Duplication (frameshift variant)	TARP syndrome	Gnot provided
Select item 433146	NM_005676.5(RBM10):c.159del (p.Lys54fs)	RBM10 (K54fs +1 more)	Deletion (frameshift variant)	TARP syndrome	GPathogenic
Select item 1700155	NM_005676.5(RBM10):c.292C>T (p.Arg98Ter)	RBM10 (R163* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 2429214	NM_005676.5(RBM10):c.331C>T (p.Gln111Ter)	RBM10 (Q111* +1 more)	Single nucleotide variant (nonsense +1 more)	TARP syndrome	GLikely pathogenic
Select item 1699224	NM_005676.5(RBM10):c.373G>T (p.Glu125Ter)	RBM10 (E125* +1 more)	Single nucleotide variant (nonsense +1 more)	TARP syndrome	GPathogenic
Select item 976116	NM_005676.5(RBM10):c.396dup (p.Leu133fs)	RBM10 (L133fs +1 more)	Duplication (frameshift variant +1 more)	TARP syndrome	GLikely pathogenic
Select item 137613	NM_005676.5(RBM10):c.448C>T (p.Gln150Ter)	RBM10 (Q150* +2 more)	Single nucleotide variant (nonsense)	TARP syndrome	GPathogenic
Select item 3254884	NM_005676.5(RBM10):c.579_586dup (p.Asn196fs)	RBM10 (N119fs +2 more)	Duplication (frameshift variant)	TARP syndrome	GPathogenic
Select item 689781	NM_005676.5(RBM10):c.724+2T>C	LOC126863252, RBM10	Single nucleotide variant (splice donor variant)	TARP syndrome	GPathogenic
Select item 2435380	NM_005676.5(RBM10):c.856G>A (p.Ala286Thr)	RBM10, LOC126863252 (A209T +2 more)	Single nucleotide variant (missense variant)	TARP syndrome	GUncertain significance
Select item 2435381	NM_005676.5(RBM10):c.995G>A (p.Arg332His)	RBM10 (R255H +2 more)	Single nucleotide variant (missense variant)	TARP syndrome	GUncertain significance
Select item 11644	NM_005676.5(RBM10):c.1235G>A (p.Trp412Ter)	RBM10 (W412* +4 more)	Single nucleotide variant (nonsense)	TARP syndrome	GPathogenic
Select item 436516	NM_005676.5(RBM10):c.1249-1G>A	RBM10	Single nucleotide variant (splice acceptor variant)	TARP syndrome	GPathogenic
Select item 1030008	NM_005676.5(RBM10):c.1476G>T (p.Ser492=)	RBM10	Single nucleotide variant (synonymous variant)	TARP syndrome	GUncertain significance
Select item 1323521	NM_005676.5(RBM10):c.1722C>G (p.Tyr574Ter)	RBM10 (Y496* +4 more)	Single nucleotide variant (nonsense)	TARP syndrome	GPathogenic
Select item 977462	NM_005676.5(RBM10):c.1804_1805del (p.Ser602fs)	RBM10 (S524fs +4 more)	Microsatellite (frameshift variant)	TARP syndrome	GPathogenic
Select item 1206235	NM_005676.5(RBM10):c.1891G>C (p.Ala631Pro)	RBM10 (A553P +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 11643	NM_005676.5(RBM10):c.1893dup (p.Pro632fs)	RBM10 (P697fs +4 more)	Duplication (frameshift variant)	TARP syndrome	GPathogenic
Select item 1806258	NM_005676.5(RBM10):c.1974G>C (p.Trp658Cys)	RBM10 (W580C +4 more)	Single nucleotide variant (missense variant)	TARP syndrome	GLikely pathogenic
Select item 1806104	NM_005676.5(RBM10):c.1993_1996del (p.Gln665fs)	RBM10 (Q587fs +4 more)	Microsatellite (frameshift variant)	TARP syndrome	GPathogenic
Select item 2671930	NM_005676.5(RBM10):c.2100+1G>A	RBM10	Single nucleotide variant (splice donor variant)	TARP syndrome	GLikely pathogenic
Select item 871200	NM_005676.5(RBM10):c.2296C>T (p.Arg766Cys)	RBM10 (R765C +4 more)	Single nucleotide variant (missense variant)	TARP syndrome +1 more	GLikely pathogenic
Select item 1697973	NM_005676.5(RBM10):c.2326C>T (p.Arg776Trp)	RBM10 (R698W +4 more)	Single nucleotide variant (missense variant)	TARP syndrome	GLikely pathogenic
Select item 1333475	NM_005676.5(RBM10):c.2514C>G (p.Tyr838Ter)	RBM10 (Y760* +4 more)	Single nucleotide variant (nonsense)	TARP syndrome	GLikely pathogenic
Select item 29955	NM_003413.4(ZIC3):c.163GCC[3] (p.Ala54_Ala55dup)	ZIC3	Microsatellite (inframe_insertion)	VACTERL association, X-linked, with or without hydrocephalus	GPathogenic
Select item 3233415	NM_001330661.1(ZIC3):c.1224+3286A>G	ZIC3	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 625791	GRCh37/hg19 Xp11.23(chrX:47039376-47040521)	RBM10	Copy number loss	TARP syndrome	GPathogenic

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Items: 69