J Shirani - ClinVar - NCBI

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The following term was not found in ClinVar: Shirani.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488048	NM_001330311.2(DVL1):c.1683_1698del (p.Ser562fs)	LOC129929114, DVL1 (S562fs +1 more)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2	GLikely pathogenic
Select item 488046	NM_001330311.2(DVL1):c.1698del (p.Ser567fs)	DVL1, LOC129929114 (S542fs +1 more)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2	GLikely pathogenic
Select item 488045	NM_001330311.2(DVL1):c.1687_1691dup (p.Ser564fs)	DVL1, LOC129929114 (S564fs +1 more)	Duplication (frameshift variant)	Autosomal dominant Robinow syndrome 2	GLikely pathogenic
Select item 208044	NM_001330311.2(DVL1):c.1580_1592del (p.His527fs)	DVL1 (H502fs +1 more)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2	GPathogenic
Select item 488047	NM_001330311.2(DVL1):c.1571_1583del (p.Pro524fs)	DVL1 (P499fs +1 more)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2	GPathogenic/Likely pathogenic
Select item 225697	NM_001170535.3(ATAD3A):c.158C>T (p.Thr53Ile)	ATAD3A (T53I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 225696	NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp)	ATAD3A (R528W +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome +1 more	GPathogenic/Likely pathogenic
Select item 876360	NM_015102.5(NPHP4):c.694C>T (p.Arg232Cys)	NPHP4 (R232C)	Single nucleotide variant (5 prime UTR variant +3 more)	Nephronophthisis 4 +2 more	GUncertain significance
Select item 3236602	NM_015557.3(CHD5):c.79+5G>A	CHD5	Single nucleotide variant (intron variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 804431	NM_207396.3(RNF207):c.1109+1G>A	RNF207	Single nucleotide variant (splice donor variant)	Long QT syndrome	GLikely pathogenic
Select item 426957	NM_020631.6(PLEKHG5):c.718G>A (p.Asp240Asn)	PLEKHG5 (D240N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 88675	NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)	PIK3CD (E1021K +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14 +5 more	GPathogenic
Select item 1050789	NM_022787.4(NMNAT1):c.299+526_*968dup	NMNAT1	Duplication (splice acceptor variant +1 more)	Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis +1 more	GPathogenic
Select item 1050790	NM_022787.4(NMNAT1):c.439+5G>T	NMNAT1	Single nucleotide variant (intron variant)	Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis	GPathogenic
Select item 845745	NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys)	NMNAT1 (R237C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9 +1 more	GPathogenic/Likely pathogenic
Select item 368793	NM_001365951.3(KIF1B):c.-260C>T	KIF1B, LOC129929363	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 291463	NM_001365951.3(KIF1B):c.-26TA[7]	KIF1B, LOC129388446	Microsatellite (5 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 1327573	NM_001365951.3(KIF1B):c.101C>T (p.Ser34Leu)	KIF1B, LOC129388446 (S34L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 642188	NM_001365951.3(KIF1B):c.215G>A (p.Arg72His)	KIF1B (R72H)	Single nucleotide variant (missense variant)	Neuroblastoma +3 more	GConflicting classifications of pathogenicity
Select item 129399	NM_001365951.3(KIF1B):c.285C>G (p.Ala95=)	KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +6 more	GBenign
Select item 291467	NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=)	KIF1B	Single nucleotide variant (synonymous variant)	Neuroblastoma +4 more	GConflicting classifications of pathogenicity
Select item 1333979	NM_001365951.3(KIF1B):c.445A>G (p.Ile149Val)	KIF1B (I149V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 260542	NM_001365951.3(KIF1B):c.720+17C>T	KIF1B	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 291501	NM_001365951.3(KIF1B):c.883-10_883-7del	KIF1B	Deletion (intron variant)	Pheochromocytoma +2 more	GConflicting classifications of pathogenicity
Select item 291510	NM_001365951.3(KIF1B):c.1038-5del	KIF1B	Deletion (intron variant)	Pheochromocytoma +3 more	GConflicting classifications of pathogenicity
Select item 408309	NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val)	KIF1B (I523V +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 177960	NM_001365951.3(KIF1B):c.1777+10C>T	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +6 more	GBenign
Select item 1710958	NM_001365951.3(KIF1B):c.2115+6012C>G	KIF1B (S691R)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 1691542	NM_001365951.3(KIF1B):c.2115+6476T>C	KIF1B (V846A)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 1327571	NM_001365951.3(KIF1B):c.2115+6545C>A	KIF1B (P869Q)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 2503519	NM_001365951.3(KIF1B):c.2115+7115C>A	KIF1B (P1059Q)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 2577893	NM_001365951.3(KIF1B):c.2115+7270G>A	KIF1B (G1111S)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 2577888	NM_001365951.3(KIF1B):c.2115+7343G>A	KIF1B (R1135Q)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 1320291	NM_001365951.3(KIF1B):c.2174C>T (p.Ala725Val)	KIF1B (A679V +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +1 more	GUncertain significance
Select item 373920	NM_001365951.3(KIF1B):c.2611G>A (p.Glu871Lys)	KIF1B (E825K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +6 more	GUncertain significance
Select item 1421525	NM_001365951.3(KIF1B):c.2642A>G (p.Tyr881Cys)	KIF1B (Y881C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 845482	NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)	KIF1B, LOC126805614 (T949M +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GUncertain significance
Select item 1320293	NM_001365951.3(KIF1B):c.3163G>T (p.Gly1055Cys)	KIF1B (G1009C +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +1 more	GUncertain significance
Select item 1728203	NM_001365951.3(KIF1B):c.3290A>G (p.Lys1097Arg)	KIF1B (K1097R +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +1 more	GUncertain significance
Select item 1032652	NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His)	KIF1B (R1145H +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +4 more	GUncertain significance
Select item 1018792	NM_001365951.3(KIF1B):c.3650G>A (p.Arg1217His)	KIF1B (R1171H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1738516	NM_001365951.3(KIF1B):c.4321A>T (p.Ile1441Phe)	KIF1B (I1395F +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1423585	NM_001365951.3(KIF1B):c.4601T>G (p.Leu1534Arg)	KIF1B (L1488R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 917115	NM_001365951.3(KIF1B):c.4753-20C>A	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 695344	NM_001365951.3(KIF1B):c.5097-9C>T	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 1041517	NM_001365951.3(KIF1B):c.5176C>T (p.Arg1726Cys)	KIF1B (R1680C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 855407	NM_001365951.3(KIF1B):c.5203A>G (p.Ser1735Gly)	KIF1B (S1689G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +3 more	GConflicting classifications of pathogenicity
Select item 543240	NM_001365951.3(KIF1B):c.5225G>A (p.Arg1742His)	KIF1B (R1696H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 1710968	NM_001365951.3(KIF1B):c.5300C>G (p.Thr1767Ser)	KIF1B (T1721S +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +1 more	GUncertain significance
Select item 129401	NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=)	KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +6 more	GBenign
Select item 291588	NM_001365951.3(KIF1B):c.*249CA[19]	KIF1B	Microsatellite (3 prime UTR variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 291587	NM_001365951.3(KIF1B):c.*249CA[18]	KIF1B	Microsatellite (3 prime UTR variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 291586	NM_001365951.3(KIF1B):c.*249CA[17]	KIF1B	Microsatellite (3 prime UTR variant)	not provided +3 more	GUncertain significance
Select item 291591	NM_001365951.3(KIF1B):c.*249CA[13]	KIF1B	Microsatellite (3 prime UTR variant)	Neuroblastoma +2 more	GUncertain significance
Select item 291590	NM_001365951.3(KIF1B):c.*249CA[14]	KIF1B	Microsatellite (3 prime UTR variant)	Neuroblastoma +2 more	GUncertain significance
Select item 291589	NM_001365951.3(KIF1B):c.*249CA[15]	KIF1B	Microsatellite (3 prime UTR variant)	Pheochromocytoma +3 more	GBenign
Select item 291592	NM_001365951.3(KIF1B):c.281_286del	KIF1B	Deletion (3 prime UTR variant)	Neuroblastoma +2 more	GUncertain significance
Select item 291593	NM_001365951.3(KIF1B):c.281_282dup	KIF1B	Duplication (3 prime UTR variant)	Neuroblastoma +2 more	GUncertain significance
Select item 291598	NM_001365951.3(KIF1B):c.*454CT[1]	KIF1B	Microsatellite (3 prime UTR variant)	Neuroblastoma +2 more	GUncertain significance
Select item 291603	NM_001365951.3(KIF1B):c.*1104C>T	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma +2 more	GUncertain significance
Select item 291609	NM_001365951.3(KIF1B):c.*1363dup	KIF1B	Duplication (3 prime UTR variant)	Neuroblastoma +2 more	GUncertain significance
Select item 291617	NM_001365951.3(KIF1B):c.*2032T>A	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma +2 more	GUncertain significance
Select item 291636	NM_001365951.3(KIF1B):c.*2978dup	KIF1B	Duplication (3 prime UTR variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 291646	NM_001365951.3(KIF1B):c.*3644dup	KIF1B	Duplication (3 prime UTR variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 291658	NM_001365951.3(KIF1B):c.*4127dup	KIF1B	Duplication (3 prime UTR variant)	Pheochromocytoma +2 more	GLikely benign
Select item 291660	NM_001365951.3(KIF1B):c.*4279dup	KIF1B	Duplication (3 prime UTR variant)	Pheochromocytoma +2 more	GLikely benign
Select item 291666	NM_001365951.3(KIF1B):c.4664_4665insG	KIF1B	Insertion (3 prime UTR variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 368794	NM_015074.3(KIF1B):c.*5019T>C	KIF1B	Single nucleotide variant	not provided +3 more	GBenign
Select item 5230	NM_007375.4(TARDBP):c.881G>C (p.Gly294Ala)	TARDBP (G294A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1750908	NM_007375.4(TARDBP):c.1213A>G (p.Met405Val)	TARDBP (M405V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +2 more	GUncertain significance
Select item 2672097	NM_004958.4(MTOR):c.5662T>C (p.Phe1888Leu)	MTOR (F1472L +1 more)	Single nucleotide variant (missense variant)	Overgrowth syndrome	GLikely pathogenic
Select item 190121	NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe)	MTOR (C1483F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2672094	NM_004958.4(MTOR):c.4376C>A (p.Ala1459Asp)	MTOR (A1043D +1 more)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II	GPathogenic
Select item 3521	NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)	MTHFR (E470A)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +3 more	GBenign/Likely benign; other
Select item 996033	NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)	MTHFR (I153M +1 more)	Single nucleotide variant (missense variant)	Neural tube defects, folate-sensitive +3 more	GPathogenic/Likely pathogenic
Select item 2044480	NM_000302.4(PLOD1):c.467-2A>G	PLOD1	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GLikely pathogenic
Select item 1377914	NM_000302.4(PLOD1):c.467-2del	PLOD1	Deletion (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 580535	NM_000302.4(PLOD1):c.1095C>T (p.Gly365=)	PLOD1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 265507	NM_000302.4(PLOD1):c.1651-2A>G	PLOD1	Single nucleotide variant (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
Select item 214656	NM_014874.4(MFN2):c.58C>T (p.His20Tyr)	MFN2 (H20Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2281	NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)	MFN2 (R104W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +7 more	GPathogenic
Select item 585713	NM_014874.4(MFN2):c.467G>T (p.Ser156Ile)	MFN2 (S156I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 202171	NM_014874.4(MFN2):c.746C>T (p.Ser249Phe)	MFN2 (S249F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +1 more	GPathogenic/Likely pathogenic
Select item 214653	NM_014874.4(MFN2):c.749G>A (p.Arg250Gln)	MFN2 (R250Q)	Single nucleotide variant (missense variant)	MFN2-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 155730	NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)	MFN2 (R259C)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 577496	NM_014874.4(MFN2):c.776G>A (p.Arg259His)	MFN2 (R259H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 30738	NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)	MFN2 (T362M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +6 more	GPathogenic/Likely pathogenic
Select item 245944	NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln)	MFN2 (R364Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 217161	NM_014874.4(MFN2):c.1126A>G (p.Met376Val)	MFN2 (M376V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +3 more	GPathogenic/Likely pathogenic
Select item 2282	NM_014874.4(MFN2):c.1403G>A (p.Arg468His)	MFN2 (R468H)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 214634	NM_014874.4(MFN2):c.1574A>G (p.Asn525Ser)	MFN2 (N525S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GConflicting classifications of pathogenicity
Select item 637714	NM_014874.4(MFN2):c.1910C>T (p.Ser637Phe)	MFN2 (S637F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 2269	NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)	MFN2 (W740S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +7 more	GPathogenic/Likely pathogenic
Select item 1784194	NM_007272.3(CTRC):c.-1C>T	CTRC	Single nucleotide variant (5 prime UTR variant)	Hereditary pancreatitis	GUncertain significance
Select item 1397450	NM_007272.3(CTRC):c.86G>A (p.Arg29Gln)	CTRC (R29Q)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2921107	NM_007272.3(CTRC):c.132G>A (p.Gln44=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GConflicting classifications of pathogenicity
Select item 8180	NM_007272.3(CTRC):c.164G>A (p.Trp55Ter)	CTRC (W55*)	Single nucleotide variant (nonsense)	Hereditary pancreatitis	GPathogenic
Select item 1330384	NM_007272.3(CTRC):c.181G>A (p.Gly61Arg)	CTRC (G61R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GConflicting classifications of pathogenicity
Select item 1782301	NM_007272.3(CTRC):c.190_193del (p.Ile64fs)	CTRC (I64fs)	Deletion (frameshift variant)	Hereditary pancreatitis	GPathogenic
Select item 874807	NM_007272.3(CTRC):c.205G>A (p.Val69Ile)	CTRC (V69I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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