ClinVar for MedGen (Select 462559) - ClinVar

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Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2054564	NM_017827.4(SARS2):c.176A>C (p.Asp59Ala)	LOC130064387, SARS2 (D59A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1613192	NM_017827.4(SARS2):c.1348-19G>A	SARS2	Single nucleotide variant (intron variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	GBenign/Likely benign
Select item 1420911	NM_017827.4(SARS2):c.17C>T (p.Ala6Val)	LOC130064387, SARS2 (A6V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1408148	NM_017827.4(SARS2):c.446T>C (p.Leu149Pro)	SARS2 (L149P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1291419	NM_017827.4(SARS2):c.393+112dup	SARS2	Duplication (intron variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	GBenign
Select item 1291409	NM_017827.4(SARS2):c.1413+39C>T	SARS2	Single nucleotide variant (intron variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	GBenign
Select item 1279405	NM_017827.4(SARS2):c.963-40G>C	SARS2	Single nucleotide variant (intron variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	GBenign
Select item 1229000	NM_017827.4(SARS2):c.268-27T>A	SARS2	Single nucleotide variant (intron variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	GBenign
Select item 1225394	NM_017827.4(SARS2):c.268-26C>A	SARS2	Single nucleotide variant (intron variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	GBenign
Select item 1196852	NM_017827.4(SARS2):c.988C>T (p.Arg330Trp)	SARS2 (R330W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1196088	NM_017827.4(SARS2):c.637G>A (p.Asp213Asn)	SARS2 (D213N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1033452	NM_017827.4(SARS2):c.820A>T (p.Met274Leu)	SARS2 (M274L +1 more)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 978825	NM_017827.4(SARS2):c.1205G>A (p.Arg402His)	SARS2 (R402H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 894516	NM_017827.4(SARS2):c.11C>T (p.Ser4Phe)	LOC130064387, SARS2 (S4F)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 894515	NM_017827.4(SARS2):c.84T>C (p.Asp28=)	LOC130064387, SARS2	Single nucleotide variant (synonymous variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 894514	NM_017827.4(SARS2):c.138G>T (p.Glu46Asp)	LOC130064387, SARS2 (E46D)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 894475	NM_017827.4(SARS2):c.862C>T (p.Pro288Ser)	SARS2 (P290S +1 more)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 894474	NM_017827.4(SARS2):c.877G>A (p.Asp293Asn)	SARS2 (D295N +1 more)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 894473	NM_017827.4(SARS2):c.900G>A (p.Ala300=)	SARS2	Single nucleotide variant (synonymous variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 894120	NM_017827.4(SARS2):c.230G>T (p.Arg77Leu)	LOC130064387, SARS2 (R77L)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 894119	NM_017827.4(SARS2):c.249G>A (p.Ser83=)	LOC130064387, SARS2	Single nucleotide variant (synonymous variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 894118	NM_017827.4(SARS2):c.315C>G (p.Ser105Arg)	SARS2 (S105R)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 894086	NM_017827.4(SARS2):c.1292G>A (p.Arg431His)	SARS2 (R431H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 894085	NM_017827.4(SARS2):c.1404C>A (p.Asn468Lys)	SARS2 (N468K +1 more)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	GUncertain significance
Select item 894084	NM_017827.4(SARS2):c.1428C>T (p.Leu476=)	SARS2	Single nucleotide variant (synonymous variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 894083	NM_017827.4(SARS2):c.1481C>T (p.Thr494Ile)	SARS2 (T494I +1 more)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 893261	NM_017827.4(SARS2):c.373G>A (p.Asp125Asn)	SARS2 (D125N)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 893260	NM_017827.4(SARS2):c.448G>A (p.Val150Ile)	SARS2 (V150I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 893233	NM_017827.4(SARS2):c.*99T>G	SARS2	Single nucleotide variant (3 prime UTR variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GLikely benign
Select item 893232	NM_017827.4(SARS2):c.*116C>T	SARS2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 893231	NM_017827.4(SARS2):c.*131C>T	SARS2	Single nucleotide variant (3 prime UTR variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 893053	NM_017827.4(SARS2):c.679C>T (p.Arg227Trp)	SARS2 (R227W +1 more)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 893052	NM_017827.4(SARS2):c.759+4T>C	SARS2	Single nucleotide variant (intron variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 893051	NM_017827.4(SARS2):c.794G>C (p.Arg265Pro)	SARS2 (R267P +1 more)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 893012	NM_017827.4(SARS2):c.*224C>T	SARS2	Single nucleotide variant (3 prime UTR variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 893011	NM_017827.4(SARS2):c.*250A>G	SARS2	Single nucleotide variant (3 prime UTR variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 774395	NM_006513.4(SARS1):c.1160G>A (p.Gly387Glu)	SARS1 (G387E)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	GBenign/Likely benign
Select item 711285	NM_006513.4(SARS1):c.1387+8T>C	LOC126805821, SARS1	Single nucleotide variant (intron variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	GBenign/Likely benign
Select item 681928	NM_017827.4(SARS2):c.795C>T (p.Arg265=)	SARS2	Single nucleotide variant (synonymous variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +2 more	GLikely benign
Select item 669445	NM_017827.4(SARS2):c.777G>A (p.Thr259=)	SARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 638611	NM_017827.4(SARS2):c.1347G>A (p.Thr449=)	SARS2	Single nucleotide variant (synonymous variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 559230	NM_017827.4(SARS2):c.1317C>T (p.Thr439=)	SARS2	Single nucleotide variant (synonymous variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 516609	NM_017827.4(SARS2):c.963-17T>C	SARS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 516608	NM_017827.4(SARS2):c.540C>T (p.Val180=)	SARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 515449	NM_017827.4(SARS2):c.91A>C (p.Arg31=)	LOC130064387, SARS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 506542	NM_017827.4(SARS2):c.1315A>T (p.Thr439Ser)	SARS2 (T439S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 432690	NM_017827.4(SARS2):c.694C>T (p.Arg232Cys)	SARS2 (R232C +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 423155	NM_017827.4(SARS2):c.1291C>T (p.Arg431Cys)	SARS2 (R431C +1 more)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	GUncertain significance
Select item 382975	NM_017827.4(SARS2):c.534+9C>T	SARS2	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 380990	NM_017827.4(SARS2):c.696C>T (p.Arg232=)	SARS2	Single nucleotide variant (synonymous variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	GBenign/Likely benign
Select item 378497	NM_017827.4(SARS2):c.576C>T (p.Val192=)	SARS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 378496	NM_017827.4(SARS2):c.364-14C>T	SARS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 329229	NM_017827.3(SARS2):c.-106A>T	LOC130064387, SARS2	Single nucleotide variant	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 329228	NM_017827.4(SARS2):c.-19G>T	LOC130064387, SARS2	Single nucleotide variant (5 prime UTR variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 329227	NM_017827.4(SARS2):c.-12T>C	LOC130064387, SARS2	Single nucleotide variant (5 prime UTR variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	GBenign
Select item 329226	NM_017827.4(SARS2):c.44G>C (p.Arg15Pro)	LOC130064387, SARS2 (R15P)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 329225	NM_017827.4(SARS2):c.175G>C (p.Asp59His)	LOC130064387, SARS2 (D59H)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 329224	NM_017827.4(SARS2):c.321G>A (p.Glu107=)	SARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 329223	NM_017827.4(SARS2):c.353G>A (p.Arg118Gln)	SARS2 (R118Q)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	GUncertain significance
Select item 329222	NM_017827.4(SARS2):c.394-5C>G	SARS2	Single nucleotide variant (intron variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 329221	NM_017827.4(SARS2):c.534+10G>A	SARS2	Single nucleotide variant (intron variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 329220	NM_017827.4(SARS2):c.535-15G>C	SARS2	Single nucleotide variant (intron variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 329219	NM_017827.4(SARS2):c.589+4G>A	SARS2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 329218	NM_017827.4(SARS2):c.654-11C>G	SARS2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 329217	NM_017827.4(SARS2):c.758G>A (p.Arg253Gln)	SARS2 (R253Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 329216	NM_017827.4(SARS2):c.888G>A (p.Leu296=)	SARS2	Single nucleotide variant (synonymous variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 329215	NM_017827.4(SARS2):c.916+10TG[2]	SARS2	Microsatellite (intron variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	GBenign/Likely benign
Select item 329214	NM_017827.4(SARS2):c.917-4C>T	SARS2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 329213	NM_017827.4(SARS2):c.963-10T>C	SARS2	Single nucleotide variant (intron variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 329212	NM_017827.4(SARS2):c.1160+4T>C	SARS2	Single nucleotide variant (intron variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	GBenign
Select item 329211	NM_017827.4(SARS2):c.1321G>A (p.Ala441Thr)	SARS2 (A441T +1 more)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 329210	NM_017827.4(SARS2):c.1347+10G>A	SARS2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 329209	NM_017827.4(SARS2):c.*22C>A	SARS2	Single nucleotide variant (3 prime UTR variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 329208	NM_017827.4(SARS2):c.*22C>T	SARS2	Single nucleotide variant (3 prime UTR variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 329207	NM_017827.4(SARS2):c.*79G>C	SARS2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 329206	NM_017827.4(SARS2):c.*140C>T	SARS2	Single nucleotide variant (3 prime UTR variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 329205	NM_017827.3(SARS2):c.*341G>C	SARS2	Single nucleotide variant	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GUncertain significance
Select item 242874	NM_017827.4(SARS2):c.1042T>C (p.Phe348Leu)	SARS2 (F350L +1 more)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GPathogenic
Select item 215114	NM_017827.4(SARS2):c.30G>A (p.Trp10Ter)	LOC130064387, SARS2 (W10*)	Single nucleotide variant (nonsense)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	GPathogenic/Likely pathogenic
Select item 215112	NM_017827.4(SARS2):c.796G>A (p.Gly266Arg)	SARS2 (G266R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 215109	NM_017827.4(SARS2):c.501G>A (p.Ala167=)	SARS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 215107	NM_017827.4(SARS2):c.390G>A (p.Gln130=)	SARS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 215106	NM_017827.4(SARS2):c.364-7C>A	SARS2	Single nucleotide variant (intron variant)	SARS2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 215105	NM_017827.4(SARS2):c.136G>A (p.Glu46Lys)	SARS2, LOC130064387 (E46K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 215104	NM_017827.4(SARS2):c.91A>G (p.Arg31Gly)	LOC130064387, SARS2 (R31G)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 215102	NM_017827.4(SARS2):c.310C>T (p.Arg104Trp)	SARS2 (R104W)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 138961	NM_017827.4(SARS2):c.248C>T (p.Ser83Leu)	LOC130064387, SARS2 (S83L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 138960	NM_017827.4(SARS2):c.103A>G (p.Thr35Ala)	LOC130064387, SARS2 (T35A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 138959	NM_017827.4(SARS2):c.273G>A (p.Ser91=)	SARS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 138958	NM_017827.4(SARS2):c.590-5T>A	SARS2	Single nucleotide variant (intron variant)	SARS2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 30982	NM_017827.4(SARS2):c.1169A>G (p.Asp390Gly)	SARS2 (D390G +1 more)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	GPathogenic

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Items: 93