ClinVar for Gene (Select 23096) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3110684	NM_001111125.3(IQSEC2):c.3670C>A (p.Pro1224Thr)	IQSEC2 (P1224T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3110683	NM_001111125.3(IQSEC2):c.3353G>C (p.Gly1118Ala)	IQSEC2 (G1118A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110681	NM_001111125.3(IQSEC2):c.2662A>G (p.Ile888Val)	IQSEC2 (I888V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110680	NM_001111125.3(IQSEC2):c.1273C>T (p.Arg425Trp)	IQSEC2 (R425W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068932	NM_001111125.3(IQSEC2):c.3624A>G (p.Leu1208=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3067752	NM_001111125.3(IQSEC2):c.3933C>G (p.Ala1311=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3065610	NM_001111125.3(IQSEC2):c.2703del (p.Ala902fs)	IQSEC2 (A697fs +1 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 1	GLikely pathogenic
Select item 3064512	NM_001111125.3(IQSEC2):c.4387G>A (p.Ala1463Thr)	IQSEC2 (A1463T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GUncertain significance
Select item 3062570	GRCh37/hg19 Xp11.22(chrX:53130035-53289919)	IQSEC2, KDM5C	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 3062509	GRCh37/hg19 Xp11.22(chrX:53155402-53787878)	HSD17B10, HUWE1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3046959	NM_001111125.3(IQSEC2):c.3222C>T (p.Ser1074=)	IQSEC2	Single nucleotide variant (synonymous variant)	IQSEC2-related condition	GLikely benign
Select item 3044483	NM_001111125.3(IQSEC2):c.3452-10G>A	IQSEC2	Single nucleotide variant (intron variant)	IQSEC2-related condition	GLikely benign
Select item 3040318	NM_001111125.3(IQSEC2):c.1630G>A (p.Glu544Lys)	IQSEC2 (E339K +1 more)	Single nucleotide variant (missense variant)	IQSEC2-related condition	GUncertain significance
Select item 3037055	NM_001243197.2(IQSEC2):c.12C>T (p.Pro4=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	IQSEC2-related condition	GLikely benign
Select item 3032952	NM_001111125.3(IQSEC2):c.122G>A (p.Arg41Gln)	IQSEC2 (R41Q)	Single nucleotide variant (missense variant)	IQSEC2-related condition	GUncertain significance
Select item 3029747	NM_001111125.3(IQSEC2):c.437G>A (p.Gly146Asp)	IQSEC2 (G146D)	Single nucleotide variant (missense variant)	IQSEC2-related condition	GUncertain significance
Select item 3029289	NM_001111125.3(IQSEC2):c.1124C>T (p.Ser375Leu)	IQSEC2 (S170L +1 more)	Single nucleotide variant (missense variant)	IQSEC2-related condition	GUncertain significance
Select item 3025183	NM_001111125.3(IQSEC2):c.960G>A (p.Ser320=)	IQSEC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019870	NM_001111125.3(IQSEC2):c.291C>G (p.Phe97Leu)	IQSEC2 (F97L)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 3018878	NM_001111125.3(IQSEC2):c.384T>C (p.Ala128=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 3018129	NM_001111125.3(IQSEC2):c.1402-12C>G	IQSEC2	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 3014807	NM_001111125.3(IQSEC2):c.533C>T (p.Ala178Val)	IQSEC2 (A178V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 3012366	NM_001111125.3(IQSEC2):c.2460-15T>C	IQSEC2	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 3011452	NM_001111125.3(IQSEC2):c.645C>T (p.Pro215=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 3009118	NM_001111125.3(IQSEC2):c.373A>C (p.Asn125His)	IQSEC2 (N125H)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 3008380	NM_001111125.3(IQSEC2):c.4226G>A (p.Arg1409Gln)	IQSEC2 (R1409Q)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GBenign
Select item 3007791	NM_001111125.3(IQSEC2):c.1401+8T>C	IQSEC2	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 3002774	NM_001111125.3(IQSEC2):c.1557C>T (p.Tyr519=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 3002455	NM_001111125.3(IQSEC2):c.2182G>A (p.Gly728Ser)	IQSEC2 (G728S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 3001815	NM_001111125.3(IQSEC2):c.1936C>T (p.Arg646Cys)	IQSEC2 (R646C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 3000525	NM_001111125.3(IQSEC2):c.4256A>C (p.His1419Pro)	IQSEC2 (H1419P)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2996561	NM_001111125.3(IQSEC2):c.2346A>G (p.Ser782=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2991072	NM_001111125.3(IQSEC2):c.765C>T (p.Asp255=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2989914	NM_001111125.3(IQSEC2):c.2621A>G (p.Gln874Arg)	IQSEC2 (Q874R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2984908	NM_001111125.3(IQSEC2):c.1615C>T (p.Pro539Ser)	IQSEC2 (P334S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1 +1 more	GUncertain significance
Select item 2984113	NM_001111125.3(IQSEC2):c.3296A>G (p.Lys1099Arg)	IQSEC2 (K894R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2983561	NM_001111125.3(IQSEC2):c.1937G>A (p.Arg646His)	IQSEC2 (R646H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2977967	NM_001111125.3(IQSEC2):c.447C>T (p.Ala149=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2977196	NM_001111125.3(IQSEC2):c.1485G>A (p.Gln495=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2975701	NM_001111125.3(IQSEC2):c.1836C>T (p.Arg612=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2961197	NM_001111125.3(IQSEC2):c.776C>T (p.Ala259Val)	IQSEC2 (A259V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2955935	NM_001111125.3(IQSEC2):c.2889+20G>T	IQSEC2	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2917951	NM_001111125.3(IQSEC2):c.801C>T (p.Pro267=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2915314	NM_001111125.3(IQSEC2):c.2304A>G (p.Pro768=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2913989	NM_001111125.3(IQSEC2):c.2469G>A (p.Val823=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2910443	NM_001111125.3(IQSEC2):c.596C>A (p.Pro199Gln)	IQSEC2 (P199Q)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2909373	NM_001111125.3(IQSEC2):c.3414C>T (p.Gly1138=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GBenign
Select item 2907580	NM_001111125.3(IQSEC2):c.2117A>G (p.Asn706Ser)	IQSEC2 (N501S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2904230	NM_001111125.3(IQSEC2):c.3715C>T (p.His1239Tyr)	IQSEC2 (H1239Y)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2900891	NM_001111125.3(IQSEC2):c.624C>A (p.Gly208=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2898396	NM_001111125.3(IQSEC2):c.1105C>A (p.Arg369=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2898395	NM_001111125.3(IQSEC2):c.1110A>C (p.Leu370=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2898394	NM_001111125.3(IQSEC2):c.3252G>A (p.Gln1084=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2893812	NM_001111125.3(IQSEC2):c.1668A>G (p.Pro556=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2890789	NM_001111125.3(IQSEC2):c.3723C>T (p.His1241=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 2881772	NM_001111125.3(IQSEC2):c.2106C>T (p.Ser702=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2874279	NM_001111125.3(IQSEC2):c.944G>A (p.Arg315His)	IQSEC2 (R110H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2866665	NM_001111125.3(IQSEC2):c.822G>A (p.Leu274=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2866178	NM_001111125.3(IQSEC2):c.2943G>A (p.Val981=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2864436	NM_001111125.3(IQSEC2):c.4044A>C (p.Gly1348=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 2864430	NM_001111125.3(IQSEC2):c.1893C>A (p.Thr631=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2863190	NM_001111125.3(IQSEC2):c.2147C>T (p.Ser716Phe)	IQSEC2 (S511F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2854471	NM_001111125.3(IQSEC2):c.1712G>T (p.Gly571Val)	IQSEC2 (G571V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2849006	NM_001111125.3(IQSEC2):c.4281A>G (p.Pro1427=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 2847595	NM_001111125.3(IQSEC2):c.2618G>C (p.Arg873Pro)	IQSEC2 (R873P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2846087	NM_001111125.3(IQSEC2):c.3210G>A (p.Leu1070=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2843194	NM_001111125.3(IQSEC2):c.2582+4T>G	IQSEC2	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 1	GBenign
Select item 2842286	NM_001111125.3(IQSEC2):c.968A>G (p.Tyr323Cys)	IQSEC2 (Y323C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2841629	NM_001111125.3(IQSEC2):c.3002A>G (p.Asn1001Ser)	IQSEC2 (N1001S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2841275	NM_001111125.3(IQSEC2):c.3099G>A (p.Gln1033=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2837471	NM_001111125.3(IQSEC2):c.1561G>A (p.Asp521Asn)	IQSEC2 (D521N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2837460	NM_001111125.3(IQSEC2):c.2758A>G (p.Asn920Asp)	IQSEC2 (N920D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2837307	NM_001111125.3(IQSEC2):c.1158C>T (p.Ser386=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2835720	NM_001111125.3(IQSEC2):c.44G>A (p.Ser15Asn)	IQSEC2 (S15N)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2834652	NM_001111125.3(IQSEC2):c.2167G>T (p.Glu723Ter)	IQSEC2 (E723* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 1	GPathogenic
Select item 2832576	NM_001111125.3(IQSEC2):c.539C>T (p.Pro180Leu)	IQSEC2 (P180L)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2831746	NM_001111125.3(IQSEC2):c.2531T>A (p.Ile844Asn)	IQSEC2 (I844N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2831745	NM_001111125.3(IQSEC2):c.2539C>A (p.Gln847Lys)	IQSEC2 (Q847K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2830224	NM_001111125.3(IQSEC2):c.838C>T (p.His280Tyr)	IQSEC2 (H75Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2829967	NM_001111125.3(IQSEC2):c.3884A>T (p.Gln1295Leu)	IQSEC2 (Q1295L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2829903	NM_001111125.3(IQSEC2):c.2839C>T (p.His947Tyr)	IQSEC2 (H742Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2827526	NM_001111125.3(IQSEC2):c.702_705del (p.Arg235fs)	IQSEC2 (R235fs)	Deletion (frameshift variant)	Intellectual disability, X-linked 1	GPathogenic
Select item 2826799	NM_001111125.3(IQSEC2):c.1892C>T (p.Thr631Ile)	IQSEC2 (T426I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2825038	NM_001111125.3(IQSEC2):c.4136C>T (p.Pro1379Leu)	IQSEC2 (P1379L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2822015	NM_001111125.3(IQSEC2):c.1764T>C (p.Ala588=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GBenign
Select item 2821088	NM_001111125.3(IQSEC2):c.2652T>C (p.Leu884=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2820581	NM_001111125.3(IQSEC2):c.1402-124_1533del	IQSEC2	Deletion (splice acceptor variant)	Intellectual disability, X-linked 1	GLikely pathogenic
Select item 2819002	NM_001111125.3(IQSEC2):c.239G>A (p.Arg80Gln)	IQSEC2 (R80Q)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2816268	NM_001111125.3(IQSEC2):c.1000-6_1001dup	IQSEC2	Duplication (splice acceptor variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2815670	NM_001111125.3(IQSEC2):c.2890-13C>T	IQSEC2	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2813908	NM_001111125.3(IQSEC2):c.1997C>T (p.Pro666Leu)	IQSEC2 (P461L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2813777	NM_001111125.3(IQSEC2):c.2873T>C (p.Ile958Thr)	IQSEC2 (I958T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2813374	NM_001111125.3(IQSEC2):c.2848C>T (p.Gln950Ter)	IQSEC2 (Q950* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 1	GPathogenic
Select item 2813182	NM_001111125.3(IQSEC2):c.1147A>G (p.Ile383Val)	IQSEC2 (I178V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2812486	NM_001111125.3(IQSEC2):c.3907C>T (p.Leu1303=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1	GLikely benign
Select item 2810846	NM_001111125.3(IQSEC2):c.2977C>T (p.His993Tyr)	IQSEC2 (H788Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2810419	NM_001111125.3(IQSEC2):c.1878C>T (p.Cys626=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1	GLikely benign
Select item 2809710	NM_001111125.3(IQSEC2):c.903del (p.Ser302fs)	IQSEC2 (S302fs +1 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 1	GPathogenic

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