"Ambry Genetics"[submitter] AND "SPRED1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1334303	NM_152594.3(SPRED1):c.-2A>T	SPRED1	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 965391	NM_152594.3(SPRED1):c.6C>A (p.Ser2Arg)	SPRED1 (S2R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1092673	NM_152594.3(SPRED1):c.15G>C (p.Thr5=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome +2 more	GLikely benign
Select item 47967	NM_152594.3(SPRED1):c.26A>T (p.Asp9Val)	SPRED1 (D9V)	Single nucleotide variant (missense variant)	Legius syndrome +4 more	GBenign/Likely benign
Select item 1978868	NM_152594.3(SPRED1):c.28A>G (p.Asn10Asp)	SPRED1 (N10D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 415718	NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys)	SPRED1 (N10K)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +4 more	GBenign/Likely benign
Select item 1177280	NM_152594.3(SPRED1):c.42T>C (p.Tyr14=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1334304	NM_152594.3(SPRED1):c.43G>A (p.Ala15Thr)	SPRED1 (A15T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 372718	NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter)	SPRED1 (R16*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 981594	NM_152594.3(SPRED1):c.47G>A (p.Arg16Gln)	SPRED1 (R16Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1329066	NM_152594.3(SPRED1):c.60G>C (p.Val20=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 373025	NM_152594.3(SPRED1):c.71G>A (p.Arg24Gln)	SPRED1 (R24Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 1765780	NM_152594.3(SPRED1):c.90A>C (p.Gly30=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome +1 more	GLikely benign
Select item 3322360	NM_152594.3(SPRED1):c.109A>G (p.Ser37Gly)	SPRED1 (S37G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 468789	NM_152594.3(SPRED1):c.115C>G (p.Leu39Val)	SPRED1 (L39V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1741683	NM_152594.3(SPRED1):c.117A>G (p.Leu39=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome +1 more	GLikely benign
Select item 1752599	NM_152594.3(SPRED1):c.121A>T (p.Ser41Cys)	SPRED1 (S41C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1128752	NM_152594.3(SPRED1):c.123C>T (p.Ser41=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome +1 more	GLikely benign
Select item 47965	NM_152594.3(SPRED1):c.124G>A (p.Val42Ile)	SPRED1 (V42I)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1400180	NM_152594.3(SPRED1):c.157A>G (p.Asn53Asp)	SPRED1 (N53D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3322361	NM_152594.3(SPRED1):c.160G>A (p.Gly54Ser)	SPRED1 (G54S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 887070	NM_152594.3(SPRED1):c.170A>G (p.Asp57Gly)	SPRED1 (D57G)	Single nucleotide variant (missense variant)	Legius syndrome +3 more	GUncertain significance
Select item 3322362	NM_152594.3(SPRED1):c.175T>C (p.Phe59Leu)	SPRED1 (F59L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 47966	NM_152594.3(SPRED1):c.177T>C (p.Phe59=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1683403	NM_152594.3(SPRED1):c.189G>C (p.Glu63Asp)	SPRED1 (E63D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 451047	NM_152594.3(SPRED1):c.196A>C (p.Arg66=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 536696	NM_152594.3(SPRED1):c.208-6T>C	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome +1 more	GConflicting classifications of pathogenicity
Select item 573472	NM_152594.3(SPRED1):c.234dup (p.Asp79fs)	SPRED1 (D79fs)	Duplication (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 1789831	NM_152594.3(SPRED1):c.233A>G (p.Lys78Arg)	SPRED1 (K78R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1989832	NM_152594.3(SPRED1):c.241A>G (p.Ile81Val)	SPRED1 (I81V)	Single nucleotide variant (missense variant)	Legius syndrome +1 more	GUncertain significance
Select item 3229266	NM_152594.3(SPRED1):c.242T>C (p.Ile81Thr)	SPRED1 (I81T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3229267	NM_152594.3(SPRED1):c.255C>T (p.Val85=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 41371	NM_152594.3(SPRED1):c.291G>A (p.Lys97=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 520837	NM_152594.3(SPRED1):c.305C>G (p.Thr102Arg)	SPRED1 (T102R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 700598	NM_152594.3(SPRED1):c.306G>A (p.Thr102=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 2454062	NM_152594.3(SPRED1):c.327T>G (p.Ala109=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1809	NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter)	SPRED1 (R117*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic
Select item 918167	NM_152594.3(SPRED1):c.353G>A (p.Arg118Lys)	SPRED1 (R118K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2568299	NM_152594.3(SPRED1):c.365A>T (p.Asp122Val)	SPRED1 (D122V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3229268	NM_152594.3(SPRED1):c.374A>G (p.Gln125Arg)	SPRED1 (Q125R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 516692	NM_152594.3(SPRED1):c.376+3A>T	SPRED1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1734671	NM_152594.3(SPRED1):c.376+15C>A	SPRED1	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1735247	NM_152594.3(SPRED1):c.381C>T (p.Cys127=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 385514	NM_152594.3(SPRED1):c.384C>T (p.Pro128=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 3229269	NM_152594.3(SPRED1):c.388T>C (p.Ser130Pro)	SPRED1 (S130P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 664866	NM_152594.3(SPRED1):c.403G>C (p.Glu135Gln)	SPRED1 (E135Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2568297	NM_152594.3(SPRED1):c.405A>G (p.Glu135=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3229270	NM_152594.3(SPRED1):c.413A>G (p.Asp138Gly)	SPRED1 (D138G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1643863	NM_152594.3(SPRED1):c.426A>G (p.Ala142=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1606632	NM_152594.3(SPRED1):c.438T>C (p.Asp146=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1740911	NM_152594.3(SPRED1):c.447T>C (p.Ser149=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1483862	NM_152594.3(SPRED1):c.455T>C (p.Val152Ala)	SPRED1 (V152A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 521350	NM_152594.3(SPRED1):c.493dup (p.Ser165fs)	SPRED1 (S165fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1745032	NM_152594.3(SPRED1):c.504T>C (p.Tyr168=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1004068	NM_152594.3(SPRED1):c.511T>C (p.Ser171Pro)	SPRED1 (S171P)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +2 more	GUncertain significance
Select item 1745704	NM_152594.3(SPRED1):c.515A>C (p.Asn172Thr)	SPRED1 (N172T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2192999	NM_152594.3(SPRED1):c.519A>G (p.Ile173Met)	SPRED1 (I173M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2587851	NM_152594.3(SPRED1):c.523C>A (p.Pro175Thr)	SPRED1 (P175T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1396990	NM_152594.3(SPRED1):c.526_528del (p.Ser176del)	SPRED1 (S176del)	Deletion (inframe_deletion)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1371090	NM_152594.3(SPRED1):c.527C>T (p.Ser176Phe)	SPRED1 (S176F)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 961884	NM_152594.3(SPRED1):c.535G>A (p.Glu179Lys)	SPRED1 (E179K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2587852	NM_152594.3(SPRED1):c.547G>A (p.Ala183Thr)	SPRED1 (A183T)	Single nucleotide variant (missense variant)	Legius syndrome +1 more	GUncertain significance
Select item 981596	NM_152594.3(SPRED1):c.563T>C (p.Met188Thr)	SPRED1 (M188T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1916832	NM_152594.3(SPRED1):c.567A>T (p.Gln189His)	SPRED1 (Q189H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1749212	NM_152594.3(SPRED1):c.570C>T (p.Ser190=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome +1 more	GLikely benign
Select item 2568300	NM_152594.3(SPRED1):c.576C>T (p.Ala192=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome +1 more	GLikely benign
Select item 1426302	NM_152594.3(SPRED1):c.578A>G (p.Asn193Ser)	SPRED1 (N193S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 229269	NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile)	SPRED1 (T196I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1750296	NM_152594.3(SPRED1):c.588A>T (p.Thr196=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome +1 more	GLikely benign
Select item 2335310	NM_152594.3(SPRED1):c.592G>T (p.Gly198Cys)	SPRED1 (G198C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2454060	NM_152594.3(SPRED1):c.593G>C (p.Gly198Ala)	SPRED1 (G198A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 388363	NM_152594.3(SPRED1):c.594T>C (p.Gly198=)	SPRED1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 2587850	NM_152594.3(SPRED1):c.599C>T (p.Pro200Leu)	SPRED1 (P200L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2955685	NM_152594.3(SPRED1):c.602G>T (p.Gly201Val)	SPRED1 (G201V)	Single nucleotide variant (missense variant)	Legius syndrome +1 more	GUncertain significance
Select item 2919600	NM_152594.3(SPRED1):c.607G>A (p.Asp203Asn)	SPRED1 (D203N)	Single nucleotide variant (missense variant)	Legius syndrome +1 more	GUncertain significance
Select item 1752847	NM_152594.3(SPRED1):c.631T>C (p.Tyr211His)	SPRED1 (Y211H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1639506	NM_152594.3(SPRED1):c.633C>T (p.Tyr211=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 536689	NM_152594.3(SPRED1):c.634G>A (p.Val212Ile)	SPRED1 (V212I)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +2 more	GBenign/Likely benign
Select item 956668	NM_152594.3(SPRED1):c.640C>T (p.Arg214Trp)	SPRED1 (R214W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1753486	NM_152594.3(SPRED1):c.642G>A (p.Arg214=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1360401	NM_152594.3(SPRED1):c.645A>C (p.Gln215His)	SPRED1 (Q215H)	Single nucleotide variant (missense variant)	Legius syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1754908	NM_152594.3(SPRED1):c.668T>A (p.Leu223Gln)	SPRED1 (L223Q)	Single nucleotide variant (missense variant)	Legius syndrome +1 more	GUncertain significance
Select item 722267	NM_152594.3(SPRED1):c.669A>G (p.Leu223=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome +1 more	GLikely benign
Select item 47970	NM_152594.3(SPRED1):c.675C>T (p.Ser225=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome +4 more	GBenign/Likely benign
Select item 536690	NM_152594.3(SPRED1):c.685G>T (p.Val229Phe)	SPRED1 (V229F)	Single nucleotide variant (missense variant)	Legius syndrome +1 more	GUncertain significance
Select item 1094718	NM_152594.3(SPRED1):c.687C>A (p.Val229=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3169363	NM_152594.3(SPRED1):c.721G>C (p.Asp241His)	SPRED1 (D241H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1759658	NM_152594.3(SPRED1):c.758T>G (p.Ile253Ser)	SPRED1 (I253S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2587849	NM_152594.3(SPRED1):c.770G>T (p.Arg257Leu)	SPRED1 (R257L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1045811	NM_152594.3(SPRED1):c.770G>A (p.Arg257His)	SPRED1 (R257H)	Single nucleotide variant (missense variant)	Legius syndrome +1 more	GUncertain significance
Select item 1761178	NM_152594.3(SPRED1):c.790delinsAA (p.Pro264fs)	SPRED1 (P264fs)	Indel (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 280174	NM_152594.3(SPRED1):c.807T>G (p.Asn269Lys)	SPRED1 (N269K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2447509	NM_152594.3(SPRED1):c.826G>A (p.Ala276Thr)	SPRED1 (A276T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 2587855	NM_152594.3(SPRED1):c.829G>A (p.Asp277Asn)	SPRED1 (D277N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3322357	NM_152594.3(SPRED1):c.853C>G (p.Pro285Ala)	SPRED1 (P285A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3229271	NM_152594.3(SPRED1):c.860G>A (p.Ser287Asn)	SPRED1 (S287N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1473684	NM_152594.3(SPRED1):c.875A>G (p.Tyr292Cys)	SPRED1 (Y292C)	Single nucleotide variant (missense variant)	Legius syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2587854	NM_152594.3(SPRED1):c.877C>G (p.Leu293Val)	SPRED1 (L293V)	Single nucleotide variant (missense variant)	Legius syndrome +1 more	GUncertain significance
Select item 386548	NM_152594.3(SPRED1):c.879G>A (p.Leu293=)	SPRED1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 241991	NM_152594.3(SPRED1):c.886T>C (p.Cys296Arg)	SPRED1 (C296R)	Single nucleotide variant (missense variant)	Legius syndrome +1 more	GLikely benign

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