7989[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 150274	GRCh38/hg38 1p13.2(chr1:114499327-114926423)x1	AMPD1, BCAS2 +19 more	Copy number loss	See cases	GUncertain significance
Select item 876141	NM_002524.5(NRAS):c.*3500G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 291939	NM_002524.5(NRAS):c.*3499C>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 876142	NM_002524.5(NRAS):c.*3430T>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291940	NM_002524.5(NRAS):c.*3404T>C	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291941	NM_002524.5(NRAS):c.*3392T>C	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 2639007	NM_002524.5(NRAS):c.*3385G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 291942	NM_002524.5(NRAS):c.*3384C>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GBenign
Select item 291943	NM_002524.5(NRAS):c.*3366G>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 876279	NM_002524.5(NRAS):c.*3362T>C	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876280	NM_002524.5(NRAS):c.*3341A>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876281	NM_002524.5(NRAS):c.*3306A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 291944	NM_002524.5(NRAS):c.*3219C>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 876282	NM_002524.5(NRAS):c.*3103G>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291945	NM_002524.5(NRAS):c.*3062C>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876283	NM_002524.5(NRAS):c.*3020A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291946	NM_002524.5(NRAS):c.*2965del	NRAS	Deletion (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 291947	NM_002524.5(NRAS):c.*2860G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291948	NM_002524.5(NRAS):c.*2844T>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 874294	NM_002524.5(NRAS):c.*2816T>C	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 874295	NM_002524.5(NRAS):c.*2811C>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291949	NM_002524.5(NRAS):c.*2805T>C	NRAS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 291950	NM_002524.5(NRAS):c.*2784T>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 874296	NM_002524.5(NRAS):c.*2767C>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291951	NM_002524.5(NRAS):c.*2714G>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291952	NM_002524.5(NRAS):c.*2677A>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291953	NM_002524.5(NRAS):c.*2667T>C	NRAS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 291954	NM_002524.5(NRAS):c.*2662G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 291955	NM_002524.5(NRAS):c.*2630G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 875227	NM_002524.5(NRAS):c.*2618A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6 +1 more	GConflicting classifications of pathogenicity
Select item 875228	NM_002524.5(NRAS):c.*2589G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291956	NM_002524.5(NRAS):c.*2546C>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 875229	NM_002524.5(NRAS):c.*2523A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876186	NM_002524.5(NRAS):c.*2517A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 291957	NM_002524.5(NRAS):c.2510_2515del	NRAS	Deletion (3 prime UTR variant)	Noonan syndrome	GLikely benign
Select item 291958	NM_002524.5(NRAS):c.*2513T>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6 +1 more	GConflicting classifications of pathogenicity
Select item 291959	NM_002524.5(NRAS):c.*2464A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 876187	NM_002524.5(NRAS):c.*2412G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876188	NM_002524.5(NRAS):c.*2328G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291960	NM_002524.5(NRAS):c.*2327C>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 876189	NM_002524.5(NRAS):c.*2226G>C	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 2639008	NM_002524.5(NRAS):c.*2221dup	NRAS	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 876190	NM_002524.5(NRAS):c.*2188C>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291961	NM_002524.5(NRAS):c.*2178G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876327	NM_002524.5(NRAS):c.*1974T>C	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876328	NM_002524.5(NRAS):c.*1936C>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876329	NM_002524.5(NRAS):c.*1914A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876330	NM_002524.5(NRAS):c.*1887T>C	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876331	NM_002524.5(NRAS):c.*1845T>C	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291962	NM_002524.5(NRAS):c.*1656C>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291963	NM_002524.5(NRAS):c.*1643G>C	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 874356	NM_002524.5(NRAS):c.*1629C>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 874357	NM_002524.5(NRAS):c.*1571A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 874358	NM_002524.5(NRAS):c.*1509A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 874359	NM_002524.5(NRAS):c.*1466A>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291964	NM_002524.5(NRAS):c.*1382G>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 874360	NM_002524.5(NRAS):c.*1105C>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291965	NM_002524.5(NRAS):c.1062_1063del	NRAS	Deletion (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 291966	NM_002524.5(NRAS):c.*935dup	NRAS	Duplication (3 prime UTR variant)	Noonan syndrome	GUncertain significance
Select item 291967	NM_002524.5(NRAS):c.*872C>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6 +1 more	GBenign
Select item 291968	NM_002524.5(NRAS):c.*774A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291969	NM_002524.5(NRAS):c.*740G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GBenign
Select item 875279	NM_002524.5(NRAS):c.*687A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GBenign
Select item 875280	NM_002524.5(NRAS):c.*651C>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291970	NM_002524.5(NRAS):c.*583T>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 291971	NM_002524.5(NRAS):c.*536C>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291972	NM_002524.5(NRAS):c.*416A>C	NRAS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 291973	NM_002524.5(NRAS):c.*346G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 291974	NM_002524.5(NRAS):c.*344A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876239	NM_002524.5(NRAS):c.*340G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291975	NM_002524.5(NRAS):c.*111A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 381903	NM_002524.5(NRAS):c.43+20G>A	NRAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 378279	NM_002524.5(NRAS):c.*5A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1010637	NM_002524.5(NRAS):c.539_*4+1del	NRAS	Deletion (splice donor variant)	RASopathy	GUncertain significance
Select item 561354	NM_002524.5(NRAS):c.565A>G (p.Met189Val)	NRAS (M189V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1748857	NM_002524.5(NRAS):c.564G>C (p.Val188=)	NRAS	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 1349748	NM_002524.5(NRAS):c.562G>T (p.Val188Leu)	NRAS (V188L)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 180717	NM_002524.5(NRAS):c.562G>A (p.Val188Met)	NRAS (V188M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 644733	NM_002524.5(NRAS):c.561G>A (p.Val187=)	NRAS	Single nucleotide variant (synonymous 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 2898768	NM_002524.5(NRAS):c.555A>G (p.Pro185=)	NRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 1313158	NM_002524.5(NRAS):c.554C>T (p.Pro185Leu)	NRAS (P185L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 179025	NM_002524.5(NRAS):c.553C>T (p.Pro185Ser)	NRAS (P185S)	Single nucleotide variant (missense variant)	RASopathy +2 more	GConflicting classifications of pathogenicity
Select item 2131100	NM_002524.5(NRAS):c.544A>T (p.Met182Leu)	NRAS (M182L)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3365937	NM_002524.5(NRAS):c.542G>A (p.Cys181Tyr)	NRAS (C181Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307680	NM_002524.5(NRAS):c.542G>T (p.Cys181Phe)	NRAS (C181F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1090778	NM_002524.5(NRAS):c.531G>A (p.Gly177=)	NRAS	Single nucleotide variant (synonymous 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 2743098	NM_002524.5(NRAS):c.526G>T (p.Asp176Tyr)	NRAS (D176Y)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 392204	NM_002524.5(NRAS):c.525T>C (p.Asp175=)	NRAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1985945	NM_002524.5(NRAS):c.519C>T (p.Ser173=)	NRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 134991	NM_002524.5(NRAS):c.504G>C (p.Met168Ile)	NRAS (M168I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 997897	NM_002524.5(NRAS):c.503T>A (p.Met168Lys)	NRAS (M168K)	Single nucleotide variant (missense variant)	not specified	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 3300991	NM_002524.5(NRAS):c.491G>T (p.Arg164Leu)	NRAS (R164L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2717490	NM_002524.5(NRAS):c.490C>A (p.Arg164Ser)	NRAS (R164S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1064816	NM_002524.5(NRAS):c.490C>T (p.Arg164Cys)	NRAS (R164C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 1353931	NM_002524.5(NRAS):c.478G>A (p.Val160Ile)	NRAS (V160I)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance

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