Related gene-specific medical variations for Gene (Select 54938) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2962188	NM_017827.4(SARS2):c.267+18G>A	LOC130064387, SARS2	Single nucleotide variant (intron 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 2876065	NM_017827.4(SARS2):c.57G>A (p.Arg19=)	LOC130064387, SARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2649827	NM_017827.4(SARS2):c.142G>A (p.Ala48Thr)	LOC130064387, SARS2 (A48T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2098252	NM_017827.4(SARS2):c.267+20C>T	LOC130064387, SARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2048371	NM_017827.4(SARS2):c.146G>A (p.Arg49His)	LOC130064387, SARS2 (R49H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1917439	NM_017827.4(SARS2):c.267+15G>A	LOC130064387, SARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1420911	NM_017827.4(SARS2):c.17C>T (p.Ala6Val)	LOC130064387, SARS2 (A6V)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1254774	NM_017827.4(SARS2):c.-5C>A	LOC130064387, SARS2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1254459	NM_017827.4(SARS2):c.173T>A (p.Leu58Gln)	LOC130064387, SARS2 (L58Q)	Single nucleotide variant (missense variant)	not provided	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 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 591944	NM_017827.4(SARS2):c.1396dup (p.Glu466fs)	SARS2 (E468fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 515449	NM_017827.4(SARS2):c.91A>C (p.Arg31=)	LOC130064387, SARS2	Single nucleotide variant (synonymous variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +2 more	GLikely benign
Select item 383489	NM_017827.4(SARS2):c.-23T>C	LOC130064387, SARS2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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)	not provided +1 more	GBenign
Select item 329226	NM_017827.4(SARS2):c.44G>C (p.Arg15Pro)	SARS2, LOC130064387 (R15P)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	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 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 215105	NM_017827.4(SARS2):c.136G>A (p.Glu46Lys)	LOC130064387, SARS2 (E46K)	Single nucleotide variant (missense variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +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 138961	NM_017827.4(SARS2):c.248C>T (p.Ser83Leu)	LOC130064387, SARS2 (S83L)	Single nucleotide variant (missense variant)	not provided +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

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Items: 38