ClinVar for Gene (Select 357) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370369	GRCh38/hg38 Xp22.33-22.2(chrX:11091-10219826)x1	AKAP17A, ANOS1 +145 more	Copy number loss	Intellectual disability	GPathogenic
Select item 3358546	NM_001649.4(SHROOM2):c.1590C>T (p.Arg530=)	SHROOM2	Single nucleotide variant (synonymous variant)	SHROOM2-related disorder	GLikely benign
Select item 3352162	NM_001649.4(SHROOM2):c.3342C>T (p.Ser1114=)	SHROOM2	Single nucleotide variant (5 prime UTR variant +1 more)	SHROOM2-related disorder	GLikely benign
Select item 3318392	NM_001649.4(SHROOM2):c.4109A>G (p.Lys1370Arg)	SHROOM2 (K1370R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318391	NM_001649.4(SHROOM2):c.1693C>G (p.Leu565Val)	SHROOM2 (L565V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318390	NM_001649.4(SHROOM2):c.3062A>C (p.Tyr1021Ser)	SHROOM2 (Y1021S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3318389	NM_001649.4(SHROOM2):c.1685G>C (p.Ser562Thr)	SHROOM2 (S562T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318388	NM_001649.4(SHROOM2):c.4118C>A (p.Ser1373Tyr)	SHROOM2 (S1373Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318387	NM_001649.4(SHROOM2):c.1000A>G (p.Lys334Glu)	SHROOM2 (K334E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318385	NM_001649.4(SHROOM2):c.3038G>A (p.Gly1013Glu)	SHROOM2 (G1013E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3318384	NM_001649.4(SHROOM2):c.3847C>A (p.Pro1283Thr)	SHROOM2 (P1283T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318383	NM_001649.4(SHROOM2):c.1619A>G (p.Lys540Arg)	SHROOM2 (K540R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3318382	NM_001649.4(SHROOM2):c.4184A>G (p.Asn1395Ser)	SHROOM2 (N1395S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318381	NM_001649.4(SHROOM2):c.1730G>T (p.Ser577Ile)	SHROOM2 (S577I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318380	NM_001649.4(SHROOM2):c.2869G>A (p.Glu957Lys)	SHROOM2 (E957K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3318379	NM_001649.4(SHROOM2):c.10G>A (p.Ala4Thr)	SHROOM2 (A4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318378	NM_001649.4(SHROOM2):c.1275C>A (p.Ser425Arg)	SHROOM2 (S425R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3161960	NM_001649.4(SHROOM2):c.950C>T (p.Pro317Leu)	SHROOM2 (P317L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161959	NM_001649.4(SHROOM2):c.913C>A (p.Pro305Thr)	SHROOM2 (P305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161958	NM_001649.4(SHROOM2):c.682G>A (p.Asp228Asn)	SHROOM2 (D228N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161957	NM_001649.4(SHROOM2):c.616C>T (p.Arg206Cys)	SHROOM2 (R206C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161956	NM_001649.4(SHROOM2):c.4746G>T (p.Lys1582Asn)	SHROOM2 (K1582N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161955	NM_001649.4(SHROOM2):c.4355G>A (p.Arg1452Gln)	SHROOM2 (R287Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161954	NM_001649.4(SHROOM2):c.3752G>A (p.Ser1251Asn)	SHROOM2 (S1251N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161952	NM_001649.4(SHROOM2):c.3604G>A (p.Asp1202Asn)	SHROOM2 (D37N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161951	NM_001649.4(SHROOM2):c.3125A>G (p.His1042Arg)	SHROOM2 (H1042R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3161950	NM_001649.4(SHROOM2):c.2960C>T (p.Pro987Leu)	SHROOM2 (P987L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3161949	NM_001649.4(SHROOM2):c.2911C>T (p.Arg971Trp)	SHROOM2 (R971W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3161948	NM_001649.4(SHROOM2):c.2833G>A (p.Glu945Lys)	SHROOM2 (E945K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161947	NM_001649.4(SHROOM2):c.266C>T (p.Ala89Val)	SHROOM2 (A89V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161946	NM_001649.4(SHROOM2):c.2611G>A (p.Gly871Ser)	SHROOM2 (G871S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161945	NM_001649.4(SHROOM2):c.2573C>T (p.Ala858Val)	SHROOM2 (A858V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161944	NM_001649.4(SHROOM2):c.2311G>A (p.Glu771Lys)	SHROOM2 (E771K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161943	NM_001649.4(SHROOM2):c.1984C>T (p.Arg662Cys)	SHROOM2 (R662C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161942	NM_001649.4(SHROOM2):c.1742C>T (p.Pro581Leu)	SHROOM2 (P581L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161941	NM_001649.4(SHROOM2):c.1135G>A (p.Gly379Arg)	SHROOM2 (G379R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161940	NM_001649.4(SHROOM2):c.1114T>C (p.Ser372Pro)	SHROOM2 (S372P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161939	NM_001649.4(SHROOM2):c.1061A>G (p.Gln354Arg)	SHROOM2 (Q354R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3161938	NM_001649.4(SHROOM2):c.1058C>T (p.Ala353Val)	SHROOM2 (A353V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062553	GRCh37/hg19 Xp22.2(chrX:9828366-9951184)	SHROOM2	Copy number gain	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062505	GRCh37/hg19 Xp22.31-22.2(chrX:6759774-10831816)	WWC3, ANOS1 +13 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3060870	NM_001649.4(SHROOM2):c.222C>T (p.Ile74=)	SHROOM2	Single nucleotide variant (synonymous variant)	SHROOM2-related disorder	GLikely benign
Select item 3059954	NM_001649.4(SHROOM2):c.4821G>C (p.Leu1607Phe)	SHROOM2 (L1607F +2 more)	Single nucleotide variant (missense variant)	SHROOM2-related disorder	GBenign
Select item 3059401	NM_001649.4(SHROOM2):c.399A>G (p.Pro133=)	SHROOM2	Single nucleotide variant (synonymous variant)	SHROOM2-related disorder	GBenign
Select item 3057231	NM_001649.4(SHROOM2):c.3210C>T (p.Arg1070=)	SHROOM2	Single nucleotide variant (5 prime UTR variant +1 more)	SHROOM2-related disorder	GLikely benign
Select item 3056854	NM_001649.4(SHROOM2):c.4311+10T>A	LOC126863206, SHROOM2	Single nucleotide variant (intron variant)	SHROOM2-related disorder	GBenign
Select item 3056483	NM_001649.4(SHROOM2):c.1164A>G (p.Pro388=)	SHROOM2	Single nucleotide variant (synonymous variant)	SHROOM2-related disorder	GBenign
Select item 3056143	NM_001649.4(SHROOM2):c.2826C>A (p.Asp942Glu)	SHROOM2 (D942E)	Single nucleotide variant (missense variant)	SHROOM2-related disorder	GBenign
Select item 3056052	NM_001649.4(SHROOM2):c.3854G>T (p.Gly1285Val)	SHROOM2 (G120V +1 more)	Single nucleotide variant (missense variant)	SHROOM2-related disorder	GBenign
Select item 3055945	NM_001649.4(SHROOM2):c.3756A>G (p.Thr1252=)	SHROOM2	Single nucleotide variant (synonymous variant)	SHROOM2-related disorder	GBenign
Select item 3055627	NM_001649.4(SHROOM2):c.2535C>T (p.Thr845=)	SHROOM2	Single nucleotide variant (synonymous variant)	SHROOM2-related disorder	GLikely benign
Select item 3055522	NM_001649.4(SHROOM2):c.411C>T (p.Thr137=)	SHROOM2	Single nucleotide variant (synonymous variant)	SHROOM2-related disorder	GBenign
Select item 3055430	NM_001649.4(SHROOM2):c.783G>A (p.Ser261=)	SHROOM2	Single nucleotide variant (synonymous variant)	SHROOM2-related disorder	GBenign
Select item 3053815	NM_001649.4(SHROOM2):c.2573C>G (p.Ala858Gly)	SHROOM2 (A858G)	Single nucleotide variant (missense variant)	SHROOM2-related disorder	GBenign
Select item 3053176	NM_001649.4(SHROOM2):c.2694G>A (p.Ala898=)	SHROOM2	Single nucleotide variant (synonymous variant)	SHROOM2-related disorder	GLikely benign
Select item 3052825	NM_001649.4(SHROOM2):c.2453T>G (p.Leu818Arg)	SHROOM2 (L818R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3052263	NM_001649.4(SHROOM2):c.1985G>A (p.Arg662His)	SHROOM2 (R662H)	Single nucleotide variant (missense variant)	SHROOM2-related disorder	GLikely benign
Select item 3050847	NM_001649.4(SHROOM2):c.4464C>T (p.Phe1488=)	SHROOM2	Single nucleotide variant (synonymous variant)	SHROOM2-related disorder	GLikely benign
Select item 3049614	NM_001649.4(SHROOM2):c.2453T>C (p.Leu818Pro)	SHROOM2 (L818P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047916	NM_001649.4(SHROOM2):c.3991G>T (p.Ala1331Ser)	SHROOM2 (A1331S +1 more)	Single nucleotide variant (missense variant)	SHROOM2-related disorder	GLikely benign
Select item 3046849	NM_001649.4(SHROOM2):c.4163C>T (p.Ala1388Val)	SHROOM2 (A1388V +1 more)	Single nucleotide variant (missense variant)	SHROOM2-related disorder	GLikely benign
Select item 3046794	NM_001649.4(SHROOM2):c.3237C>T (p.Asp1079=)	SHROOM2	Single nucleotide variant (5 prime UTR variant +1 more)	SHROOM2-related disorder	GLikely benign
Select item 3046703	NM_001649.4(SHROOM2):c.2569G>A (p.Ala857Thr)	SHROOM2 (A857T)	Single nucleotide variant (missense variant)	SHROOM2-related disorder	GLikely benign
Select item 3044496	NM_001649.4(SHROOM2):c.1426G>C (p.Gly476Arg)	SHROOM2 (G476R)	Single nucleotide variant (missense variant)	SHROOM2-related disorder	GBenign
Select item 3043214	NM_001649.4(SHROOM2):c.3948G>A (p.Ser1316=)	SHROOM2	Single nucleotide variant (synonymous variant)	SHROOM2-related disorder	GLikely benign
Select item 3042475	NM_001649.4(SHROOM2):c.960T>A (p.Pro320=)	SHROOM2	Single nucleotide variant (synonymous variant)	SHROOM2-related disorder	GLikely benign
Select item 3042352	NM_001649.4(SHROOM2):c.4383C>T (p.Asp1461=)	SHROOM2	Single nucleotide variant (synonymous variant)	SHROOM2-related disorder	GBenign
Select item 3042208	NM_001649.4(SHROOM2):c.483G>A (p.Glu161=)	SHROOM2	Single nucleotide variant (synonymous variant)	SHROOM2-related disorder	GBenign
Select item 3042069	NM_001649.4(SHROOM2):c.2889G>A (p.Pro963=)	SHROOM2	Single nucleotide variant (synonymous variant)	SHROOM2-related disorder	GBenign
Select item 3041429	NM_001649.4(SHROOM2):c.2458G>A (p.Gly820Arg)	SHROOM2 (G820R)	Single nucleotide variant (missense variant)	SHROOM2-related disorder	GBenign
Select item 3040315	NM_001649.4(SHROOM2):c.1549C>T (p.Arg517Cys)	SHROOM2 (R517C)	Single nucleotide variant (missense variant)	SHROOM2-related disorder	GBenign
Select item 3039747	NM_001649.4(SHROOM2):c.1639G>A (p.Ala547Thr)	SHROOM2 (A547T)	Single nucleotide variant (missense variant)	SHROOM2-related disorder	GBenign
Select item 3039407	NM_001649.4(SHROOM2):c.2693C>T (p.Ala898Val)	SHROOM2 (A898V)	Single nucleotide variant (missense variant)	SHROOM2-related disorder	GBenign
Select item 3039254	NM_001649.4(SHROOM2):c.3489G>A (p.Thr1163=)	SHROOM2	Single nucleotide variant (5 prime UTR variant +1 more)	SHROOM2-related disorder	GBenign
Select item 3038819	NM_001649.4(SHROOM2):c.4662C>T (p.Arg1554=)	SHROOM2	Single nucleotide variant (synonymous variant)	SHROOM2-related disorder	GLikely benign
Select item 3038364	NM_001649.4(SHROOM2):c.2859A>G (p.Ala953=)	SHROOM2	Single nucleotide variant (synonymous variant)	SHROOM2-related disorder	GBenign
Select item 3037727	NM_001649.4(SHROOM2):c.1318G>A (p.Ala440Thr)	SHROOM2 (A440T)	Single nucleotide variant (missense variant)	SHROOM2-related disorder	GLikely benign
Select item 3037500	NM_001649.4(SHROOM2):c.2794G>T (p.Ala932Ser)	SHROOM2 (A932S)	Single nucleotide variant (missense variant)	SHROOM2-related disorder	GBenign
Select item 3037492	NM_001649.4(SHROOM2):c.1789C>T (p.Arg597Trp)	SHROOM2 (R597W)	Single nucleotide variant (missense variant)	SHROOM2-related disorder	GLikely benign
Select item 3037305	NM_001649.4(SHROOM2):c.4423A>G (p.Ile1475Val)	SHROOM2 (I1475V +2 more)	Single nucleotide variant (missense variant)	SHROOM2-related disorder	GBenign
Select item 3035257	NM_001649.4(SHROOM2):c.3657C>A (p.Ser1219Arg)	SHROOM2 (S1219R +1 more)	Single nucleotide variant (missense variant)	SHROOM2-related disorder	GLikely benign
Select item 3034500	NM_001649.4(SHROOM2):c.409A>G (p.Thr137Ala)	SHROOM2 (T137A)	Single nucleotide variant (missense variant)	SHROOM2-related disorder	GBenign
Select item 3033393	NM_001649.4(SHROOM2):c.1827G>A (p.Pro609=)	SHROOM2	Single nucleotide variant (synonymous variant)	SHROOM2-related disorder	GLikely benign
Select item 2689974	NM_001649.4(SHROOM2):c.4718C>T (p.Ala1573Val)	SHROOM2 (A1573V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2659959	NM_001649.4(SHROOM2):c.4152C>T (p.Pro1384=)	SHROOM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659958	NM_001649.4(SHROOM2):c.3699C>T (p.Ala1233=)	SHROOM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659957	NM_001649.4(SHROOM2):c.2810G>A (p.Arg937Gln)	SHROOM2 (R937Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659956	NM_001649.4(SHROOM2):c.2558A>G (p.Asn853Ser)	SHROOM2 (N853S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2659955	NM_001649.4(SHROOM2):c.2379G>A (p.Thr793=)	SHROOM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659954	NM_001649.4(SHROOM2):c.1840G>A (p.Ala614Thr)	SHROOM2 (A614T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659953	NM_001649.4(SHROOM2):c.390G>A (p.Ala130=)	SHROOM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623821	NM_001649.4(SHROOM2):c.3537G>C (p.Gln1179His)	SHROOM2 (Q1179H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619580	NM_001649.4(SHROOM2):c.3553C>A (p.Pro1185Thr)	SHROOM2 (P20T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603335	NM_001649.4(SHROOM2):c.3380C>T (p.Pro1127Leu)	SHROOM2 (P1127L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2600098	NM_001649.4(SHROOM2):c.3529G>A (p.Ala1177Thr)	SHROOM2 (A1177T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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