ClinVar for Gene (Select 4893) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247867	NC_000001.10:g.(?_115215735)_(115258781_?)dup	AMPD1, NRAS	Duplication	RASopathy	GUncertain significance
Select item 3247866	NC_000001.10:g.(?_114437687)_(115576848_?)del	AP4B1, AMPD1 +12 more	Deletion	RASopathy	GUncertain significance
Select item 3222657	NM_002524.5(NRAS):c.272C>G (p.Ala91Gly)	NRAS (A91G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3202018	NM_002524.5(NRAS):c.385C>G (p.Gln129Glu)	NRAS (Q129E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3029607	NM_002524.5(NRAS):c.34_35delinsTT (p.Gly12Phe)	NRAS (G12F)	Indel (missense variant)	NRAS-related disorder	GLikely pathogenic
Select item 3007916	NM_002524.5(NRAS):c.21G>T (p.Val7=)	NRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2976959	NM_002524.5(NRAS):c.291-9C>T	NRAS	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2962199	NM_002524.5(NRAS):c.424A>G (p.Ile142Val)	NRAS (I142V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2920471	NM_002524.5(NRAS):c.225C>G (p.Gly75=)	NRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2919474	NM_002524.5(NRAS):c.394G>A (p.Glu132Lys)	NRAS (E132K)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2918970	NM_002524.5(NRAS):c.451-11dup	NRAS	Duplication (intron variant)	RASopathy	GBenign
Select item 2913123	NM_002524.5(NRAS):c.356A>G (p.Asp119Gly)	NRAS (D119G)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2903178	NM_002524.5(NRAS):c.186A>G (p.Glu62=)	NRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2903177	NM_002524.5(NRAS):c.264G>A (p.Lys88=)	NRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2901819	NM_002524.5(NRAS):c.112-7C>T	NRAS	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2900866	NM_002524.5(NRAS):c.436G>A (p.Ala146Thr)	NRAS (A146T)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2898768	NM_002524.5(NRAS):c.555A>G (p.Pro185=)	NRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2829403	NM_002524.5(NRAS):c.290+11C>G	NRAS	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2764276	NM_002524.5(NRAS):c.558T>C (p.Cys186=)	NRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2762882	NM_002524.5(NRAS):c.421T>C (p.Phe141Leu)	NRAS (F141L)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2749982	NM_002524.5(NRAS):c.404A>G (p.Lys135Arg)	NRAS (K135R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2746485	NM_002524.5(NRAS):c.166C>G (p.Leu56Val)	NRAS (L56V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2743098	NM_002524.5(NRAS):c.526G>T (p.Asp176Tyr)	NRAS (D176Y)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2739681	NM_002524.5(NRAS):c.450+3A>G	NRAS	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 2739181	NM_002524.5(NRAS):c.451-17A>C	NRAS	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2728972	NM_002524.5(NRAS):c.112-18del	NRAS	Deletion (intron variant)	RASopathy	GLikely benign
Select item 2717490	NM_002524.5(NRAS):c.490C>A (p.Arg164Ser)	NRAS (R164S)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2672090	NM_002524.5(NRAS):c.191_196dup (p.Ser65_Ala66insAspSer)	NRAS	Duplication (inframe_insertion)	Pyogenic granuloma	GLikely pathogenic
Select item 2639010	NM_002524.4(NRAS):c.-183G>A	NRAS	Single nucleotide variant	not provided	GLikely benign
Select item 2639009	NM_002524.5(NRAS):c.264G>C (p.Lys88Asn)	NRAS (K88N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639008	NM_002524.5(NRAS):c.*2221dup	NRAS	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 2639007	NM_002524.5(NRAS):c.*3385G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2635615	NM_002524.5(NRAS):c.283C>T (p.Leu95Phe)	NRAS (L95F)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 2505906	NM_002524.5(NRAS):c.371C>T (p.Thr124Ile)	NRAS (T124I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2452497	NM_002524.5(NRAS):c.157T>C (p.Leu53=)	NRAS	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	CSDE1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424476	NC_000001.10:g.(?_113456513)_(116311162_?)dup	AMPD1, AP4B1 +23 more	Duplication	RASopathy	GUncertain significance
Select item 2284381	NM_002524.5(NRAS):c.410A>G (p.Tyr137Cys)	NRAS (Y137C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2199811	NM_002524.5(NRAS):c.451-19dup	NRAS	Duplication (intron variant)	RASopathy	GBenign
Select item 2189829	NM_002524.5(NRAS):c.450+6G>T	NRAS	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 2185908	NM_002524.5(NRAS):c.305G>A (p.Arg102Gln)	NRAS (R102Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2180866	NM_002524.5(NRAS):c.41T>G (p.Val14Gly)	NRAS (V14G)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2176086	NM_002524.5(NRAS):c.18GGT[2] (p.Val9del)	NRAS (V9del)	Microsatellite (inframe_deletion)	RASopathy	GUncertain significance
Select item 2158031	NM_002524.5(NRAS):c.291-11C>A	NRAS	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2153924	NM_002524.5(NRAS):c.111+14G>T	NRAS	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2146548	NM_002524.5(NRAS):c.325G>A (p.Val109Ile)	NRAS (V109I)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2140266	NM_002524.5(NRAS):c.330T>C (p.Pro110=)	NRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2131100	NM_002524.5(NRAS):c.544A>T (p.Met182Leu)	NRAS (M182L)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2113743	NM_002524.5(NRAS):c.4A>G (p.Thr2Ala)	NRAS (T2A)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2089336	NM_002524.5(NRAS):c.291-14A>T	NRAS	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2074072	NM_002524.5(NRAS):c.450G>C (p.Gln150His)	NRAS (Q150H)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2059335	NM_002524.5(NRAS):c.290+4C>T	NRAS	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 2054868	NM_002524.5(NRAS):c.259A>T (p.Ser87Cys)	NRAS (S87C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2041687	NM_002524.5(NRAS):c.84T>C (p.Phe28=)	NRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2020829	NM_002524.5(NRAS):c.66G>A (p.Gln22=)	NRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2000338	NM_002524.5(NRAS):c.441G>T (p.Lys147Asn)	NRAS (K147N)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1987126	NM_002524.5(NRAS):c.425T>C (p.Ile142Thr)	NRAS (I142T)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1985945	NM_002524.5(NRAS):c.519C>T (p.Ser173=)	NRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 1945834	NM_002524.5(NRAS):c.112-14del	NRAS	Deletion (intron variant)	RASopathy	GLikely benign
Select item 1937169	NM_002524.5(NRAS):c.524ATG[3] (p.Asp176_Gly177insAsp)	NRAS	Microsatellite (inframe_insertion)	RASopathy	GUncertain significance
Select item 1907174	NM_002524.5(NRAS):c.450+6G>A	NRAS	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 1808291	GRCh37/hg19 1p13.2(chr1:114833697-115377089)x1	AMPD1, BCAS2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1803496	NM_002524.5(NRAS):c.304C>T (p.Arg102Ter)	NRAS (R102*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1792664	NM_002524.5(NRAS):c.252C>T (p.Ile84=)	NRAS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1789066	NM_002524.5(NRAS):c.228A>G (p.Glu76=)	NRAS	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 1788063	NM_002524.5(NRAS):c.222A>G (p.Thr74=)	NRAS	Single nucleotide variant (synonymous variant)	NRAS-related disorder +2 more	GBenign/Likely benign
Select item 1787607	NM_002524.5(NRAS):c.21G>A (p.Val7=)	NRAS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1786150	NM_002524.5(NRAS):c.107T>C (p.Ile36Thr)	NRAS (I36T)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 1777654	NM_002524.5(NRAS):c.166C>T (p.Leu56=)	NRAS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1748857	NM_002524.5(NRAS):c.564G>C (p.Val188=)	NRAS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1735495	NM_002524.5(NRAS):c.384A>G (p.Lys128=)	NRAS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1723143	NM_002524.5(NRAS):c.164T>C (p.Ile55Thr)	NRAS (I55T)	Single nucleotide variant (missense variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1723142	NM_002524.5(NRAS):c.180A>G (p.Gly60=)	NRAS	Single nucleotide variant (synonymous variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1719074	NM_002524.5(NRAS):c.454G>T (p.Val152Phe)	NRAS (V152F)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1714146	NM_002524.5(NRAS):c.430A>G (p.Thr144Ala)	NRAS (T144A)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1708361	NM_002524.5(NRAS):c.412G>A (p.Gly138Arg)	NRAS (G138R)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 1666539	NM_002524.5(NRAS):c.451-17A>G	NRAS	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 1618918	NM_002524.5(NRAS):c.451-10C>T	NRAS	Single nucleotide variant (intron variant)	NRAS-related disorder +1 more	GLikely benign
Select item 1618175	NM_002524.5(NRAS):c.451-14T>G	NRAS	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 1611261	NM_002524.5(NRAS):c.111+10A>G	NRAS	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 1583384	NM_002524.5(NRAS):c.451-11T>C	NRAS	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 1582458	NM_002524.5(NRAS):c.465T>G (p.Ala155=)	NRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 1582033	NM_002524.5(NRAS):c.273G>A (p.Ala91=)	NRAS	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1555925	NM_002524.5(NRAS):c.111+18C>G	NRAS	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 1548420	NM_002524.5(NRAS):c.451-12T>C	NRAS	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 1540947	NM_002524.5(NRAS):c.112-14C>T	NRAS	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1490849	NM_002524.5(NRAS):c.260G>A (p.Ser87Asn)	NRAS (S87N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1466357	NM_002524.5(NRAS):c.300T>G (p.Ile100Met)	NRAS (I100M)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1449526	NM_002524.5(NRAS):c.299T>C (p.Ile100Thr)	NRAS (I100T)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1445087	NM_002524.5(NRAS):c.297G>T (p.Gln99His)	NRAS (Q99H)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1419784	NM_002524.5(NRAS):c.331A>G (p.Met111Val)	NRAS (M111V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1380557	NM_002524.5(NRAS):c.140A>G (p.Asp47Gly)	NRAS (D47G)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1379022	NM_002524.5(NRAS):c.22G>A (p.Val8Met)	NRAS (V8M)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1361101	NM_002524.5(NRAS):c.499C>T (p.Arg167Ter)	NRAS (R167*)	Single nucleotide variant (nonsense)	RASopathy	GUncertain significance
Select item 1353931	NM_002524.5(NRAS):c.478G>A (p.Val160Ile)	NRAS (V160I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1349748	NM_002524.5(NRAS):c.562G>T (p.Val188Leu)	NRAS (V188L)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1335888	NM_002524.5(NRAS):c.108A>G (p.Ile36Met)	NRAS (I36M)	Single nucleotide variant (missense variant)	Noonan syndrome 6	GLikely pathogenic
Select item 1334643	NM_002524.5(NRAS):c.274G>A (p.Asp92Asn)	NRAS (D92N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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