C5681679[trait identifier] AND "Genome Diagnostics Laboratory, The Hos - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 515883	NM_002524.5(NRAS):c.432C>T (p.Thr144=)	NRAS	Single nucleotide variant (synonymous variant)	RASopathy +3 more	GConflicting classifications of pathogenicity
Select item 40476	NM_002524.5(NRAS):c.360G>A (p.Leu120=)	NRAS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 373003	NM_002524.5(NRAS):c.183A>T (p.Gln61His)	NRAS (Q61H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1334247	NM_002524.5(NRAS):c.179G>T (p.Gly60Val)	NRAS (G60V)	Single nucleotide variant (missense variant)	Noonan syndrome 6 +1 more	GConflicting classifications of pathogenicity
Select item 1070042	NM_002524.5(NRAS):c.173C>T (p.Thr58Ile)	NRAS (T58I)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +3 more	GPathogenic/Likely pathogenic
Select item 138538	NM_002524.5(NRAS):c.112-8A>G	NRAS	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1107573	NM_002524.5(NRAS):c.69A>G (p.Leu23=)	NRAS	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1334265	NM_002524.5(NRAS):c.42T>C (p.Val14=)	NRAS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 219097	NM_002524.5(NRAS):c.35G>C (p.Gly12Ala)	NRAS (G12A)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +3 more	GPathogenic/Likely pathogenic
Select item 39648	NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)	NRAS (G12D)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +6 more	GPathogenic/Likely pathogenic
Select item 177778	NM_002524.5(NRAS):c.34G>A (p.Gly12Ser)	NRAS (G12S)	Single nucleotide variant (missense variant)	Noonan syndrome 6 +3 more	GPathogenic
Select item 1334273	NM_006912.6(RIT1):c.635G>A (p.Arg212Gln)	RIT1 (R176Q +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +2 more	GUncertain significance
Select item 280150	NM_006912.6(RIT1):c.634C>T (p.Arg212Trp)	RIT1 (R212W +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1334274	NM_006912.6(RIT1):c.488C>T (p.Thr163Ile)	RIT1 (T127I +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +2 more	GUncertain significance
Select item 197790	NM_006912.6(RIT1):c.375C>T (p.Asp125=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome and Noonan-related syndrome +4 more	GBenign
Select item 280609	NM_006912.6(RIT1):c.365G>T (p.Arg122Leu)	RIT1 (R122L +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +3 more	GConflicting classifications of pathogenicity
Select item 1334275	NM_006912.6(RIT1):c.341T>A (p.Phe114Tyr)	RIT1 (F114Y +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +2 more	GUncertain significance
Select item 1334276	NM_006912.6(RIT1):c.292A>G (p.Ile98Val)	RIT1 (I115V +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 60509	NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)	RIT1 (G95A +2 more)	Single nucleotide variant (missense variant)	RASopathy +6 more	GPathogenic
Select item 190305	NM_006912.6(RIT1):c.270G>C (p.Met90Ile)	RIT1 (M90I +2 more)	Single nucleotide variant (missense variant)	RIT1-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 120250	NM_006912.6(RIT1):c.270G>A (p.Met90Ile)	RIT1 (M90I +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +4 more	GPathogenic/Likely pathogenic
Select item 561681	NM_006912.6(RIT1):c.268A>G (p.Met90Val)	RIT1 (M90V +2 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GPathogenic
Select item 183411	NM_006912.6(RIT1):c.265T>C (p.Tyr89His)	RIT1 (Y89H +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +3 more	GPathogenic
Select item 280151	NM_006912.6(RIT1):c.259G>C (p.Asp87His)	RIT1 (D87H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 181522	NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)	RIT1 (F82L +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 183408	NM_006912.6(RIT1):c.244T>G (p.Phe82Val)	RIT1 (F82V +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +4 more	GPathogenic
Select item 183407	NM_006912.6(RIT1):c.244T>C (p.Phe82Leu)	RIT1 (F82L +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 183405	NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)	RIT1 (E81G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 60506	NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)	RIT1 (A57G +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +7 more	GPathogenic
Select item 1334277	NM_006912.6(RIT1):c.145G>C (p.Asp49His)	RIT1 (D13H +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +1 more	GUncertain significance
Select item 505721	NM_006912.6(RIT1):c.45C>G (p.Pro15=)	RIT1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 509441	NM_006912.6(RIT1):c.38G>A (p.Ser13Asn)	RIT1 (S13N +1 more)	Single nucleotide variant (missense variant +1 more)	RIT1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1334285	NM_005633.4(SOS1):c.400_401dup	SOS1	Duplication (3 prime UTR variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 177950	NM_005633.4(SOS1):c.*4C>T	SOS1	Single nucleotide variant (3 prime UTR variant)	RASopathy	GBenign FDA Recognized database
Select item 1334286	NM_005633.4(SOS1):c.3967G>C (p.Gly1323Arg)	SOS1 (G1308R +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 517435	NM_005633.4(SOS1):c.3859A>G (p.Ile1287Val)	SOS1 (I1287V +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 572542	NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile)	SOS1 (T1279I +2 more)	Single nucleotide variant (missense variant)	RASopathy +4 more	GConflicting classifications of pathogenicity
Select item 1334288	NM_005633.4(SOS1):c.3741C>T (p.Ala1247=)	SOS1	Single nucleotide variant (synonymous variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 40734	NM_005633.4(SOS1):c.3729C>G (p.Asp1243Glu)	SOS1 (D1243E +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +4 more	GConflicting classifications of pathogenicity
Select item 45368	NM_005633.4(SOS1):c.3721A>G (p.Lys1241Glu)	SOS1 (K1241E +2 more)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 1 +6 more	GUncertain significance
Select item 336015	NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala)	SOS1 (P1237A +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 1334289	NM_005633.4(SOS1):c.3610A>G (p.Ile1204Val)	SOS1 (I1189V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 448939	NM_005633.4(SOS1):c.3552T>G (p.Pro1184=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 45362	NM_005633.4(SOS1):c.3391+7A>G	SOS1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 1334290	NM_005633.4(SOS1):c.3358G>A (p.Val1120Ile)	SOS1 (V1113I +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +1 more	GUncertain significance
Select item 40726	NM_005633.4(SOS1):c.3347-1G>A	SOS1	Single nucleotide variant (splice acceptor variant +1 more)	Noonan syndrome and Noonan-related syndrome +7 more	GUncertain significance
Select item 227956	NM_005633.4(SOS1):c.3060C>T (p.Asn1020=)	SOS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 40716	NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser)	SOS1 (N1011S +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 40714	NM_005633.4(SOS1):c.2997T>C (p.Asn999=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40713	NM_005633.4(SOS1):c.2988G>A (p.Pro996=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 1334291	NM_005633.4(SOS1):c.2832C>T (p.Asn944=)	SOS1	Single nucleotide variant (synonymous variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 40708	NM_005633.4(SOS1):c.2760G>A (p.Arg920=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 700501	NM_005633.4(SOS1):c.2674-9del	SOS1	Deletion (intron variant)	RASopathy +3 more	GLikely benign
Select item 1334209	NM_005633.4(SOS1):c.2616T>G (p.Leu872=)	SOS1	Single nucleotide variant (synonymous variant)	SOS1-related disorder +1 more	GLikely benign
Select item 1334292	NM_005633.4(SOS1):c.2611G>C (p.Val871Leu)	SOS1 (V864L +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 40706	NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys)	SOS1 (E846K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 477719	NM_005633.4(SOS1):c.2511-9del	SOS1	Deletion (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 40702	NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile)	SOS1 (L791I +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 45350	NM_005633.4(SOS1):c.2167+6T>G	SOS1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 40698	NM_005633.4(SOS1):c.2156G>C (p.Gly719Ala)	SOS1 (G719A +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 40697	NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr)	SOS1 (A708T +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 40692	NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu)	SOS1 (P655L +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 139225	NM_005633.4(SOS1):c.1953A>G (p.Pro651=)	SOS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 1334293	NM_005633.4(SOS1):c.1935A>G (p.Ile645Met)	SOS1 (I638M +1 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GUncertain significance
Select item 636262	NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile)	SOS1 (F623I +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GLikely pathogenic FDA Recognized database
Select item 40687	NM_005633.4(SOS1):c.1770G>A (p.Glu590=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40686	NM_005633.4(SOS1):c.1705C>G (p.Leu569Val)	SOS1 (L569V +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 40685	NM_005633.4(SOS1):c.1668A>C (p.Val556=)	SOS1	Single nucleotide variant (synonymous variant)	Noonan syndrome and Noonan-related syndrome +6 more	GBenign/Likely benign
Select item 12872	NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser)	SOS1 (R552S +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenic FDA Recognized database
Select item 40682	NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr)	SOS1 (R552T +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40678	NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg)	SOS1 (S548R +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 509738	NM_005633.4(SOS1):c.1621T>C (p.Leu541=)	SOS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 725181	NM_005633.4(SOS1):c.1554A>G (p.Leu518=)	SOS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 45348	NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)	SOS1 (R497Q +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 636445	NM_005633.4(SOS1):c.1433C>G (p.Pro478Arg)	SOS1 (P478R +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +1 more	GConflicting classifications of pathogenicity
Select item 45346	NM_005633.4(SOS1):c.1412G>C (p.Cys471Ser)	SOS1 (C471S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 45345	NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)	SOS1 (I437T +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4 +7 more	GPathogenic/Likely pathogenic
Select item 1334294	NM_005633.4(SOS1):c.1298_1300del (p.Glu433del)	SOS1 (E426del +1 more)	Deletion (inframe_deletion)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 40672	NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)	SOS1 (G434R +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4 +12 more	GPathogenic/Likely pathogenic
Select item 40669	NM_005633.4(SOS1):c.1297G>A (p.Glu433Lys)	SOS1 (E433K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +4 more	GPathogenic
Select item 1334295	NM_005633.4(SOS1):c.1286T>C (p.Ile429Thr)	SOS1 (I422T +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4 +2 more	GUncertain significance
Select item 40665	NM_005633.4(SOS1):c.1230G>A (p.Gln410=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 1334296	NM_005633.4(SOS1):c.1200G>A (p.Leu400=)	SOS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1334297	NM_005633.4(SOS1):c.1170A>G (p.Ile390Met)	SOS1 (I383M +1 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 45343	NM_005633.4(SOS1):c.1074+5G>C	SOS1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 1334298	NM_005633.4(SOS1):c.946T>A (p.Ser316Thr)	SOS1 (S309T +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 45379	NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr)	SOS1 (D309Y +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 286289	NM_005633.4(SOS1):c.890C>T (p.Ser297Leu)	SOS1 (S297L +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +3 more	GUncertain significance
Select item 40662	NM_005633.4(SOS1):c.806T>C (p.Met269Thr)	SOS1 (M269T +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 496312	NM_005633.4(SOS1):c.755T>C (p.Ile252Thr)	SOS1 (I252T +1 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GConflicting classifications of pathogenicity
Select item 40660	NM_005633.4(SOS1):c.749T>C (p.Val250Ala)	SOS1 (V250A +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 1334300	NM_005633.4(SOS1):c.599C>T (p.Thr200Ile)	SOS1 (T193I +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 1334299	NM_005633.4(SOS1):c.599C>G (p.Thr200Ser)	SOS1 (T193S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 40655	NM_005633.4(SOS1):c.570C>T (p.Asp190=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 45374	NM_005633.4(SOS1):c.553A>G (p.Ile185Val)	SOS1 (I185V +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 40649	NM_005633.4(SOS1):c.322G>A (p.Glu108Lys)	SOS1 (E108K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40643	NM_005633.4(SOS1):c.195A>C (p.Arg65=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40641	NM_005633.4(SOS1):c.109A>G (p.Thr37Ala)	SOS1 (T37A +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 45378	NM_005633.4(SOS1):c.87+9C>T	LOC129933535, SOS1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 282591	NM_005633.4(SOS1):c.39A>G (p.Glu13=)	LOC129933535, SOS1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign FDA Recognized database

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