29112[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 182

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 148966	GRCh38/hg38 3p25.2(chr3:12487565-12997325)x3	CAND2, IQSEC1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 3055055	NM_001134382.3(IQSEC1):c.1589_1591del	IQSEC1 (S963del)	Deletion (3 prime UTR variant)	IQSEC1-related disorder	GLikely benign
Select item 2367836	NM_001134382.3(IQSEC1):c.3326G>A (p.Gly1109Asp)	IQSEC1 (G1109D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2249006	NM_001134382.3(IQSEC1):c.3326G>T (p.Gly1109Val)	IQSEC1 (G1109V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 783367	NM_001134382.3(IQSEC1):c.3250G>A (p.Val1084Met)	IQSEC1 (V1192M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2227605	NM_001134382.3(IQSEC1):c.3244G>A (p.Ala1082Thr)	IQSEC1 (A1082T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2268964	NM_001134382.3(IQSEC1):c.3239C>T (p.Pro1080Leu)	IQSEC1 (P1080L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2892712	NM_001134382.3(IQSEC1):c.3233C>T (p.Pro1078Leu)	IQSEC1 (P1186L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3110669	NM_001134382.3(IQSEC1):c.3224G>A (p.Gly1075Asp)	IQSEC1 (G1183D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 710916	NM_001134382.3(IQSEC1):c.3202G>A (p.Ala1068Thr)	IQSEC1 (A1068T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3068027	NM_001134382.3(IQSEC1):c.3140_3163del (p.His1047_Ala1055delinsPro)	IQSEC1	Deletion (inframe_indel +2 more)	Intellectual developmental disorder with short stature and behavioral abnormalities	GUncertain significance
Select item 2386647	NM_001134382.3(IQSEC1):c.3143C>T (p.Pro1048Leu)	IQSEC1 (P1048L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2399263	NM_001134382.3(IQSEC1):c.3133C>T (p.His1045Tyr)	IQSEC1 (H1153Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2319030	NM_001134382.3(IQSEC1):c.3130C>T (p.His1044Tyr)	IQSEC1 (H1044Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 783996	NM_001134382.3(IQSEC1):c.3117G>A (p.Pro1039=)	IQSEC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2653549	NM_001134382.3(IQSEC1):c.3078G>A (p.Gly1026=)	IQSEC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2855636	NM_001134382.3(IQSEC1):c.3064GCC[1] (p.Ala1023del)	IQSEC1 (A1131del +1 more)	Microsatellite (inframe_deletion +2 more)	not provided	GBenign
Select item 2653550	NM_001134382.3(IQSEC1):c.3069C>T (p.Ala1023=)	IQSEC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 780377	NM_001134382.3(IQSEC1):c.3067G>C (p.Ala1023Pro)	IQSEC1 (A1023P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1176149	NM_001134382.3(IQSEC1):c.3066C>T (p.Ala1022=)	IQSEC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 734117	NM_001134382.3(IQSEC1):c.3039G>A (p.Leu1013=)	IQSEC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2531159	NM_001134382.3(IQSEC1):c.3029G>A (p.Gly1010Asp)	IQSEC1 (G1010D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1805056	NM_001134382.3(IQSEC1):c.3028G>A (p.Gly1010Ser)	IQSEC1 (G1010S +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder with short stature and behavioral abnormalities	GUncertain significance
Select item 3110668	NM_001134382.3(IQSEC1):c.2984C>T (p.Pro995Leu)	IQSEC1 (P995L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2396190	NM_001134382.3(IQSEC1):c.2983C>T (p.Pro995Ser)	IQSEC1 (P1103S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2653551	NM_001134382.3(IQSEC1):c.2979A>C (p.Pro993=)	IQSEC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 767885	NM_001134382.3(IQSEC1):c.2976_2977= (p.Leu992_Pro993=)	IQSEC1	Variation (no sequence alteration +1 more)	not provided	GBenign
Select item 2578934	NM_001134382.3(IQSEC1):c.2970A>C (p.Pro990=)	IQSEC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3286446	NM_001134382.3(IQSEC1):c.2900C>A (p.Ser967Tyr)	IQSEC1 (S967Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3286443	NM_001134382.3(IQSEC1):c.2890A>G (p.Asn964Asp)	IQSEC1 (N1072D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2653552	NM_001134382.3(IQSEC1):c.2889C>T (p.Pro963=)	IQSEC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2397920	NM_001134382.3(IQSEC1):c.2858A>T (p.Glu953Val)	IQSEC1 (E1061V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2364740	NM_001134382.3(IQSEC1):c.2836C>T (p.Arg946Trp)	IQSEC1 (R1054W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2132248	NM_001134382.3(IQSEC1):c.2834G>A (p.Arg945His)	IQSEC1 (R1053H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1335502	NM_001134382.3(IQSEC1):c.2815A>C (p.Ile939Leu)	IQSEC1 (H814P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2553359	NM_001134382.3(IQSEC1):c.2810C>T (p.Ser937Phe)	IQSEC1 (S1045F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2355354	NM_001134382.3(IQSEC1):c.2780C>T (p.Ala927Val)	IQSEC1 (A1035V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 984563	NM_001134382.3(IQSEC1):c.2764G>A (p.Gly922Arg)	IQSEC1 (G1030R +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental abnormality	GLikely benign
Select item 2553035	NM_001134382.3(IQSEC1):c.2747C>T (p.Ser916Leu)	IQSEC1 (S808L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622741	NM_001134382.3(IQSEC1):c.2737C>T (p.Arg913Trp)	IQSEC1 (R805W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110667	NM_001134382.3(IQSEC1):c.2726G>A (p.Ser909Asn)	IQSEC1 (S1017N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621810	NM_001134382.3(IQSEC1):c.2698G>A (p.Gly900Ser)	IQSEC1 (G900S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352180	NM_001134382.3(IQSEC1):c.2642A>G (p.Lys881Arg)	IQSEC1 (K895R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110666	NM_001134382.3(IQSEC1):c.2605G>T (p.Val869Leu)	IQSEC1 (V883L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461951	NM_001134382.3(IQSEC1):c.2605G>A (p.Val869Met)	IQSEC1 (V869M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712979	NM_001134382.3(IQSEC1):c.2602G>A (p.Val868Ile)	IQSEC1 (V882I +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with short stature and behavioral abnormalities +1 more	GLikely benign
Select item 2612362	NM_001134382.3(IQSEC1):c.2519C>T (p.Thr840Ile)	IQSEC1 (T732I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221353	NM_001134382.3(IQSEC1):c.2509A>C (p.Lys837Gln)	IQSEC1 (K729Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110664	NM_001134382.3(IQSEC1):c.2495A>G (p.Asn832Ser)	IQSEC1 (N724S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1176150	NM_001134382.3(IQSEC1):c.2487C>T (p.Asn829=)	IQSEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2275206	NM_001134382.3(IQSEC1):c.2412C>A (p.Asn804Lys)	IQSEC1 (N804K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496082	NM_001134382.3(IQSEC1):c.2406C>G (p.Phe802Leu)	IQSEC1 (F802L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339608	NM_001134382.3(IQSEC1):c.2354C>T (p.Thr785Met)	IQSEC1 (T677M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110662	NM_001134382.3(IQSEC1):c.2272G>A (p.Gly758Arg)	IQSEC1 (G772R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1805203	NM_001134382.3(IQSEC1):c.2194C>T (p.Leu732Phe)	IQSEC1 (L624F +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with short stature and behavioral abnormalities	GUncertain significance
Select item 3233722	NM_001134382.3(IQSEC1):c.2190+5G>A	IQSEC1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3110661	NM_001134382.3(IQSEC1):c.2159C>T (p.Pro720Leu)	IQSEC1 (P734L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242203	NM_001134382.3(IQSEC1):c.2095A>G (p.Lys699Glu)	IQSEC1 (K699E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2790308	NM_001134382.3(IQSEC1):c.2089G>C (p.Glu697Gln)	IQSEC1 (E697Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2614066	NM_001134382.3(IQSEC1):c.2087G>T (p.Arg696Leu)	IQSEC1 (R710L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455755	NM_001134382.3(IQSEC1):c.2081G>T (p.Arg694Leu)	IQSEC1 (R708L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323434	NM_001134382.3(IQSEC1):c.2080C>A (p.Arg694Ser)	IQSEC1 (R802S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222647	NM_001134382.3(IQSEC1):c.2074C>G (p.Arg692Gly)	IQSEC1 (R800G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338897	NM_001134382.3(IQSEC1):c.2059A>C (p.Met687Leu)	IQSEC1 (M687L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286445	NM_001134382.3(IQSEC1):c.2044C>G (p.Pro682Ala)	IQSEC1 (P682A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469196	NM_001134382.3(IQSEC1):c.2009A>G (p.Lys670Arg)	IQSEC1 (K562R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653553	NM_001134382.3(IQSEC1):c.1983G>C (p.Arg661=)	IQSEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3286448	NM_001134382.3(IQSEC1):c.1979A>G (p.Glu660Gly)	IQSEC1 (E552G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390471	NM_001134382.3(IQSEC1):c.1904C>T (p.Pro635Leu)	IQSEC1 (P527L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254681	NM_001134382.3(IQSEC1):c.1903C>G (p.Pro635Ala)	IQSEC1 (P527A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229299	NM_001134382.3(IQSEC1):c.1898G>A (p.Arg633Gln)	IQSEC1 (R647Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653554	NM_001134382.3(IQSEC1):c.1887G>A (p.Val629=)	IQSEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2298484	NM_001134382.3(IQSEC1):c.1846G>T (p.Ala616Ser)	IQSEC1 (A508S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879574	NM_001134382.3(IQSEC1):c.1800C>T (p.His600=)	IQSEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653555	NM_001134382.3(IQSEC1):c.1743C>T (p.Asp581=)	IQSEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653556	NM_001134382.3(IQSEC1):c.1722C>T (p.Asp574=)	IQSEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3286441	NM_001134382.3(IQSEC1):c.1717C>G (p.Arg573Gly)	IQSEC1 (R465G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110660	NM_001134382.3(IQSEC1):c.1711T>G (p.Phe571Val)	IQSEC1 (F679V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540294	NM_001134382.3(IQSEC1):c.1684G>A (p.Glu562Lys)	IQSEC1 (E562K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342054	NM_001134382.3(IQSEC1):c.1604G>A (p.Arg535His)	IQSEC1 (R427H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 735697	NM_001134382.3(IQSEC1):c.1548C>T (p.Ile516=)	IQSEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341849	NM_001134382.3(IQSEC1):c.1530C>T (p.Arg510=)	IQSEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742524	NM_001134382.3(IQSEC1):c.1527C>T (p.Ile509=)	IQSEC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1331647	NM_001134382.3(IQSEC1):c.1470dup (p.Tyr491fs)	IQSEC1 (Y383fs +3 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3286447	NM_001134382.3(IQSEC1):c.1452G>T (p.Gln484His)	IQSEC1 (Q484H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788849	NM_001134382.3(IQSEC1):c.1428G>A (p.Ser476=)	IQSEC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2441985	NM_001134382.3(IQSEC1):c.1381A>G (p.Ser461Gly)	IQSEC1 (S353G +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with short stature and behavioral abnormalities	GUncertain significance
Select item 2343381	NM_001134382.3(IQSEC1):c.1331A>C (p.Gln444Pro)	IQSEC1 (Q444P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286439	NM_001134382.3(IQSEC1):c.1291C>A (p.Leu431Met)	IQSEC1 (L431M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653557	NM_001134382.3(IQSEC1):c.1286G>A (p.Arg429Lys)	IQSEC1 (R321K +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3110659	NM_001134382.3(IQSEC1):c.1277G>A (p.Arg426Gln)	IQSEC1 (R426Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513777	NM_001134382.3(IQSEC1):c.1271G>A (p.Arg424Gln)	IQSEC1 (R424Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2