ClinVar for Gene (Select 8036) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3226186	NM_007373.4(SHOC2):c.725C>A (p.Thr242Lys)	SHOC2 (T242K)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3226185	NM_007373.4(SHOC2):c.654C>T (p.Ser218=)	SHOC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3226184	NM_007373.4(SHOC2):c.1609C>T (p.Leu537=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3226183	NM_007373.4(SHOC2):c.1154A>G (p.Asn385Ser)	SHOC2 (N339S +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3226182	NM_007373.4(SHOC2):c.1090C>T (p.His364Tyr)	SHOC2 (H318Y +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3161865	NM_007373.4(SHOC2):c.626A>C (p.Lys209Thr)	SHOC2 (K209T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3161864	NM_007373.4(SHOC2):c.21A>C (p.Lys7Asn)	SHOC2 (K7N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 3061176	NM_007373.4(SHOC2):c.16G>A (p.Gly6Arg)	SHOC2 (G6R)	Single nucleotide variant (missense variant)	SHOC2-related condition	GUncertain significance
Select item 3049667	NM_007373.4(SHOC2):c.1422+5A>G	SHOC2	Single nucleotide variant (intron variant)	SHOC2-related condition	GLikely benign
Select item 3017949	NM_007373.4(SHOC2):c.972+16G>A	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3017204	NM_007373.4(SHOC2):c.842-16_842-15insG	SHOC2	Insertion (intron variant)	RASopathy	GLikely benign
Select item 3016703	NM_007373.4(SHOC2):c.261T>C (p.Asn87=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 3016298	NM_007373.4(SHOC2):c.321A>C (p.Leu107Phe)	SHOC2 (L107F)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3015127	NM_007373.4(SHOC2):c.1515A>G (p.Leu505=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 3011897	NM_007373.4(SHOC2):c.102T>G (p.Phe34Leu)	SHOC2 (F34L)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2998050	NM_007373.4(SHOC2):c.1541-20T>A	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2996187	NM_007373.4(SHOC2):c.1130G>A (p.Arg377Lys)	SHOC2 (R377K +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2993247	NM_007373.4(SHOC2):c.703+17T>G	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2993126	NM_007373.4(SHOC2):c.826C>T (p.Leu276Phe)	SHOC2 (L276F)	Single nucleotide variant (missense variant +2 more)	RASopathy	GUncertain significance
Select item 2987062	NM_007373.4(SHOC2):c.1297T>C (p.Ser433Pro)	SHOC2 (S433P +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2985968	NM_007373.4(SHOC2):c.1625A>G (p.Lys542Arg)	SHOC2 (K496R +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2978506	NM_007373.4(SHOC2):c.1580A>T (p.Asn527Ile)	SHOC2 (N481I +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2957705	NM_007373.4(SHOC2):c.569G>A (p.Arg190Lys)	SHOC2 (R190K)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2919783	NM_007373.4(SHOC2):c.459A>G (p.Leu153=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2918530	NM_007373.4(SHOC2):c.1541-6A>G	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2915908	NM_007373.4(SHOC2):c.786G>A (p.Gln262=)	SHOC2	Single nucleotide variant (synonymous variant +2 more)	RASopathy	GLikely benign
Select item 2915041	NM_007373.4(SHOC2):c.1285-5A>C	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2913857	NM_007373.4(SHOC2):c.1290T>C (p.Leu430=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 2913471	NM_007373.4(SHOC2):c.1032G>A (p.Gln344=)	SHOC2	Single nucleotide variant (non-coding transcript variant +1 more)	RASopathy	GLikely benign
Select item 2912183	NM_007373.4(SHOC2):c.212C>T (p.Thr71Met)	SHOC2 (T71M)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2910221	NM_007373.4(SHOC2):c.842-16T>G	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2906236	NM_007373.4(SHOC2):c.584C>T (p.Thr195Ile)	SHOC2 (T195I)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2905959	NM_007373.4(SHOC2):c.951T>C (p.Asn317=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	RASopathy +1 more	GLikely benign
Select item 2905577	NM_007373.4(SHOC2):c.919A>G (p.Ser307Gly)	SHOC2 (S307G +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2905283	NM_007373.4(SHOC2):c.1540+9C>T	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2902925	NM_007373.4(SHOC2):c.1162-15T>C	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2902277	NM_007373.4(SHOC2):c.408G>A (p.Gln136=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2901392	NM_007373.4(SHOC2):c.972+19A>G	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2893344	NM_007373.4(SHOC2):c.1219T>C (p.Leu407=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 2887165	NM_007373.4(SHOC2):c.1161+15G>C	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2882839	NM_007373.4(SHOC2):c.1162-18T>G	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2880831	NM_007373.4(SHOC2):c.90C>T (p.Ala30=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2875204	NM_007373.4(SHOC2):c.974G>A (p.Ser325Asn)	SHOC2 (S325N +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2859237	NM_007373.4(SHOC2):c.451C>T (p.Leu151=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2850800	NM_007373.4(SHOC2):c.519G>C (p.Met173Ile)	SHOC2 (M173I)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic
Select item 2849663	NM_007373.4(SHOC2):c.1693C>A (p.Pro565Thr)	SHOC2 (P519T +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2849185	NM_007373.4(SHOC2):c.1254T>C (p.Pro418=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 2847622	NM_007373.4(SHOC2):c.1434G>C (p.Leu478Phe)	SHOC2 (L432F +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2845159	NM_007373.4(SHOC2):c.703+8G>A	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2836061	NM_007373.4(SHOC2):c.471A>G (p.Ser157=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2832027	NM_007373.4(SHOC2):c.972+11del	SHOC2	Deletion (intron variant)	RASopathy	GLikely benign
Select item 2827817	NM_007373.4(SHOC2):c.1503T>C (p.Leu501=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 2825582	NM_007373.4(SHOC2):c.1324C>G (p.His442Asp)	SHOC2 (H396D +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2820376	NM_007373.4(SHOC2):c.1541-6A>C	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2817899	NM_007373.4(SHOC2):c.1541-18G>C	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2815839	NM_007373.4(SHOC2):c.1176A>G (p.Thr392=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 2811678	NM_007373.4(SHOC2):c.91T>C (p.Ser31Pro)	SHOC2 (S31P)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2808499	NM_007373.4(SHOC2):c.663C>T (p.Ser221=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2807258	NM_007373.4(SHOC2):c.1692dup (p.Pro565fs)	SHOC2 (P519fs +1 more)	Duplication (frameshift variant +1 more)	RASopathy	GUncertain significance
Select item 2804581	NM_007373.4(SHOC2):c.88G>A (p.Ala30Thr)	SHOC2 (A30T)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2795797	NM_007373.4(SHOC2):c.22G>C (p.Glu8Gln)	SHOC2 (E8Q)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2781300	NM_007373.4(SHOC2):c.1490C>G (p.Thr497Arg)	SHOC2 (T497R +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2776754	NM_007373.4(SHOC2):c.1281T>C (p.Leu427=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 2770738	NM_007373.4(SHOC2):c.103G>A (p.Gly35Arg)	SHOC2 (G35R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2759629	NM_007373.4(SHOC2):c.644C>G (p.Ser215Ter)	SHOC2 (S215*)	Single nucleotide variant (nonsense)	RASopathy	GUncertain significance
Select item 2749309	NM_007373.4(SHOC2):c.47C>G (p.Pro16Arg)	SHOC2 (P16R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2734891	NM_007373.4(SHOC2):c.1162-13T>C	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2732305	NM_007373.4(SHOC2):c.1292T>C (p.Ile431Thr)	SHOC2 (I385T +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2732229	NM_007373.4(SHOC2):c.711A>G (p.Leu237=)	SHOC2	Single nucleotide variant (synonymous variant +2 more)	RASopathy	GLikely benign
Select item 2725429	NM_007373.4(SHOC2):c.236C>G (p.Pro79Arg)	SHOC2 (P79R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2724657	NM_007373.4(SHOC2):c.580C>T (p.Leu194Phe)	SHOC2 (L194F)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2715205	NM_007373.4(SHOC2):c.154G>T (p.Asp52Tyr)	SHOC2 (D52Y)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2714748	NM_007373.4(SHOC2):c.713G>A (p.Cys238Tyr)	SHOC2 (C238Y)	Single nucleotide variant (missense variant +2 more)	RASopathy	GUncertain significance
Select item 2711844	NM_007373.4(SHOC2):c.1482dup (p.Asn495Ter)	SHOC2 (N449* +1 more)	Duplication (nonsense +1 more)	RASopathy	GUncertain significance
Select item 2710103	NM_007373.4(SHOC2):c.1213G>C (p.Val405Leu)	SHOC2 (V359L +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2709847	NM_007373.4(SHOC2):c.1422+15G>T	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2708371	NM_007373.4(SHOC2):c.468T>C (p.Asn156=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2706629	NM_007373.4(SHOC2):c.338A>G (p.His113Arg)	SHOC2 (H113R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2701279	NM_007373.4(SHOC2):c.1164C>A (p.Asp388Glu)	SHOC2 (D342E +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2697920	NM_007373.4(SHOC2):c.1097G>T (p.Arg366Leu)	SHOC2 (R320L +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2696509	NM_007373.4(SHOC2):c.183A>T (p.Gln61His)	SHOC2 (Q61H)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2693157	NM_007373.4(SHOC2):c.794A>C (p.Asn265Thr)	SHOC2 (N265T)	Single nucleotide variant (missense variant +2 more)	RASopathy	GUncertain significance
Select item 2692932	NM_007373.4(SHOC2):c.843A>T (p.Gly281=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 2691413	NM_007373.4(SHOC2):c.605A>G (p.Asn202Ser)	SHOC2 (N202S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2640836	NM_007373.4(SHOC2):c.1365A>G (p.Leu455=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640835	NM_007373.4(SHOC2):c.656T>C (p.Met219Thr)	SHOC2 (M219T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640834	NM_007373.4(SHOC2):c.11G>A (p.Ser4Asn)	SHOC2 (S4N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636303	NM_007373.4(SHOC2):c.1650C>G (p.Asn550Lys)	SHOC2 (N504K +1 more)	Single nucleotide variant (missense variant +1 more)	SHOC2-related condition	GUncertain significance
Select item 2580339	GRCh37/hg19 10q25.2(chr10:112021329-113054313)x3	ADRA2A, BBIP1 +7 more	Copy number gain	RASopathy	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2565490	NM_007373.4(SHOC2):c.1292T>A (p.Ile431Asn)	SHOC2 (I431N +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2503516	NM_007373.4(SHOC2):c.145G>A (p.Asp49Asn)	SHOC2 (D49N)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1 +1 more	GUncertain significance
Select item 2499955	NM_007373.4(SHOC2):c.557C>T (p.Ser186Leu)	SHOC2 (S186L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2450871	NM_007373.4(SHOC2):c.1257G>C (p.Glu419Asp)	SHOC2 (E373D +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2450870	NM_007373.4(SHOC2):c.256A>G (p.Ser86Gly)	SHOC2 (S86G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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