ClinVar for Gene (Select 54938) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380617	NM_017827.4(SARS2):c.337G>A (p.Val113Met)	SARS2 (V113M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380616	NM_017827.4(SARS2):c.1414_1415delinsCT (p.Asp472Leu)	SARS2 (D472L +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 3370077	NM_017827.4(SARS2):c.937G>A (p.Val313Met)	SARS2 (V313M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369998	NM_017827.4(SARS2):c.1429G>A (p.Val477Met)	SARS2 (V477M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369199	NM_017827.4(SARS2):c.1442T>A (p.Leu481His)	SARS2 (L481H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343240	NM_017827.4(SARS2):c.1546G>T (p.Ala516Ser)	SARS2 (A516S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341665	NM_017827.4(SARS2):c.402G>A (p.Lys134=)	SARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3336945	NM_017827.4(SARS2):c.1507C>G (p.Pro503Ala)	SARS2 (P503A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3316166	NM_017827.4(SARS2):c.707C>T (p.Ala236Val)	SARS2 (A238V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316165	NM_017827.4(SARS2):c.1538G>A (p.Gly513Asp)	SARS2 (G513D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3253195	NM_017827.4(SARS2):c.56G>A (p.Arg19Gln)	LOC130064387, SARS2 (R19Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252709	NM_017827.4(SARS2):c.7G>A (p.Ala3Thr)	LOC130064387, SARS2 (A3T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3237538	NM_017827.4(SARS2):c.217G>C (p.Ala73Pro)	LOC130064387, SARS2 (A73P)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 3157854	NM_017827.4(SARS2):c.82G>T (p.Asp28Tyr)	LOC130064387, SARS2 (D28Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157853	NM_017827.4(SARS2):c.563T>G (p.Val188Gly)	SARS2 (V188G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065638	NM_017827.4(SARS2):c.655C>T (p.Arg219Cys)	SARS2 (R219C +1 more)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3050363	NM_017827.4(SARS2):c.393+201G>A	SARS2	Single nucleotide variant (synonymous variant +1 more)	SARS2-related disorder	GLikely benign
Select item 3042088	NM_033362.3(MRPS12):c.-272G>A	LOC130064387, MRPS12 +1 more	Single nucleotide variant (5 prime UTR variant)	MRPS12-related disorder	GLikely benign
Select item 3019388	NM_017827.4(SARS2):c.680G>A (p.Arg227Gln)	SARS2 (R229Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019157	NM_017827.4(SARS2):c.1161-5C>T	SARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009930	NM_017827.4(SARS2):c.590-19G>A	SARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001818	NM_017827.4(SARS2):c.808-4C>G	SARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991129	NM_017827.4(SARS2):c.1151T>A (p.Leu384Ter)	SARS2 (L384* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2986325	NM_017827.4(SARS2):c.589+19C>T	SARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971704	NM_017827.4(SARS2):c.1503C>T (p.Ile501=)	SARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971273	NM_017827.4(SARS2):c.589+7C>T	SARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971014	NM_017827.4(SARS2):c.1254+10G>C	SARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2962188	NM_017827.4(SARS2):c.267+18G>A	LOC130064387, SARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954673	NM_017827.4(SARS2):c.1050+14G>A	SARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906735	NM_017827.4(SARS2):c.537C>T (p.Pro179=)	SARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906091	NM_017827.4(SARS2):c.762C>T (p.Gly254=)	SARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902523	NM_017827.4(SARS2):c.228C>T (p.Leu76=)	LOC130064387, SARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899250	NM_017827.4(SARS2):c.120C>T (p.Asn40=)	LOC130064387, SARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892257	NM_017827.4(SARS2):c.436C>T (p.Arg146Trp)	SARS2 (R146W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2888929	NM_017827.4(SARS2):c.1030C>T (p.Arg344Ter)	SARS2 (R346* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2876065	NM_017827.4(SARS2):c.57G>A (p.Arg19=)	LOC130064387, SARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875920	NM_017827.4(SARS2):c.1142_1143del (p.Glu381fs)	SARS2 (E383fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2834061	NM_017827.4(SARS2):c.1053G>A (p.Val351=)	SARS2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2829932	NM_017827.4(SARS2):c.468G>A (p.Glu156=)	SARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817542	NM_017827.4(SARS2):c.808-6C>T	SARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796134	NM_017827.4(SARS2):c.364-13T>C	SARS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2777999	NM_017827.4(SARS2):c.210C>T (p.Ala70=)	LOC130064387, SARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776556	NM_017827.4(SARS2):c.1245C>T (p.Arg415=)	SARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717787	NM_017827.4(SARS2):c.916+7A>G	SARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2649827	NM_017827.4(SARS2):c.142G>A (p.Ala48Thr)	LOC130064387, SARS2 (A48T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2649826	NM_017827.4(SARS2):c.858C>T (p.Ile286=)	SARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617132	NM_017827.4(SARS2):c.1243C>T (p.Arg415Cys)	SARS2 (R417C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615392	NM_017827.4(SARS2):c.1340C>T (p.Ala447Val)	SARS2 (A449V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574961	NM_017827.4(SARS2):c.500C>T (p.Ala167Val)	SARS2 (A167V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574738	NM_017827.4(SARS2):c.603A>G (p.Gln201=)	SARS2	Single nucleotide variant (synonymous variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2565653	NM_017827.4(SARS2):c.422G>A (p.Arg141His)	SARS2 (R141H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2540183	NM_017827.4(SARS2):c.577G>A (p.Gly193Arg)	SARS2 (G195R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516291	NM_017827.4(SARS2):c.794G>A (p.Arg265His)	SARS2 (R265H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2501528	NM_017827.4(SARS2):c.650A>C (p.Gln217Pro)	SARS2 (Q217P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2486565	NM_017827.4(SARS2):c.1537G>A (p.Gly513Ser)	SARS2 (G513S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2430389	NM_017827.4(SARS2):c.1255-3C>T	SARS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2428266	NM_017827.4(SARS2):c.597C>T (p.Ser199=)	SARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	DPF1, ECH1 +34 more	Duplication	RYR1-related disorder	GUncertain significance
Select item 2421329	NM_017827.4(SARS2):c.187T>C (p.Phe63Leu)	LOC130064387, SARS2 (F63L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2313851	NM_017827.4(SARS2):c.1519C>G (p.Arg507Gly)	SARS2 (R507G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285632	NM_017827.4(SARS2):c.1388C>T (p.Ala463Val)	SARS2 (A463V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278366	NM_017827.4(SARS2):c.835A>T (p.Asn279Tyr)	SARS2 (N279Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269967	NM_017827.4(SARS2):c.1089G>C (p.Gln363His)	SARS2 (Q363H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267963	NM_017827.4(SARS2):c.1321G>T (p.Ala441Ser)	SARS2 (A441S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217856	NM_017827.4(SARS2):c.1244G>A (p.Arg415His)	SARS2 (R417H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2192207	NM_017827.4(SARS2):c.1101G>T (p.Leu367=)	SARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191276	NM_017827.4(SARS2):c.415C>T (p.Arg139Trp)	SARS2 (R139W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2178303	NM_017827.4(SARS2):c.1359C>T (p.Thr453=)	SARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2173492	NM_017827.4(SARS2):c.1197C>T (p.Pro399=)	SARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2166294	NM_017827.4(SARS2):c.1389G>A (p.Ala463=)	SARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2160144	NM_017827.4(SARS2):c.577_580dup (p.Asp194fs)	SARS2 (D196fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2148539	NM_017827.4(SARS2):c.1286A>G (p.Gln429Arg)	SARS2 (Q429R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123657	NM_017827.4(SARS2):c.1348-13G>A	SARS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2100476	NM_017827.4(SARS2):c.1546G>C (p.Ala516Pro)	SARS2 (A516P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098252	NM_017827.4(SARS2):c.267+20C>T	LOC130064387, SARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2079671	NM_017827.4(SARS2):c.373_377delinsTACC (p.Asp125fs)	SARS2 (D125fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 2078578	NM_017827.4(SARS2):c.1417G>A (p.Gly473Ser)	SARS2 (G475S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076906	NM_017827.4(SARS2):c.720C>T (p.His240=)	SARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075925	NM_017827.4(SARS2):c.858C>G (p.Ile286Met)	SARS2 (I286M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2062739	NM_017827.4(SARS2):c.476T>A (p.Leu159His)	SARS2 (L161H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2060090	NM_017827.4(SARS2):c.428G>A (p.Arg143Gln)	SARS2 (R143Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2054564	NM_017827.4(SARS2):c.176A>C (p.Asp59Ala)	LOC130064387, SARS2 (D59A)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	GUncertain significance
Select item 2054158	NM_017827.4(SARS2):c.541G>A (p.Gly181Arg)	SARS2 (G183R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050144	NM_017827.4(SARS2):c.358C>T (p.Leu120=)	SARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2048371	NM_017827.4(SARS2):c.146G>A (p.Arg49His)	LOC130064387, SARS2 (R49H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2021800	NM_017827.4(SARS2):c.531C>A (p.Asp177Glu)	SARS2 (D179E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2017431	NM_017827.4(SARS2):c.1161-10T>A	SARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2004693	NM_017827.4(SARS2):c.1004C>A (p.Thr335Lys)	SARS2 (T337K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998484	NM_017827.4(SARS2):c.1429G>T (p.Val477Leu)	SARS2 (V477L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990486	NM_017827.4(SARS2):c.1414-17G>C	SARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1989426	NM_017827.4(SARS2):c.1018C>T (p.Arg340Trp)	SARS2 (R340W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1989378	NM_017827.4(SARS2):c.363+12G>A	SARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1968932	NM_017827.4(SARS2):c.394-16C>T	SARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1966939	NM_017827.4(SARS2):c.252G>C (p.Ala84=)	LOC130064387, SARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964275	NM_017827.4(SARS2):c.427C>G (p.Arg143Gly)	SARS2 (R143G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1956138	NM_017827.4(SARS2):c.700G>C (p.Ala234Pro)	SARS2 (A234P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954550	NM_017827.4(SARS2):c.654-5C>T	SARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931914	NM_017827.4(SARS2):c.1519C>T (p.Arg507Trp)	SARS2 (R509W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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