987[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC126807213, LOC126807214 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC126807202, LOC126807203 +1026 more	Copy number gain	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	LOC129993194, LOC129993195 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 152109	GRCh38/hg38 4q31.23-31.3(chr4:149910581-150498400)x3	DCLK2, LOC110121159 +5 more	Copy number gain	See cases	GUncertain significance
Select item 282955	NM_001364905.1(LRBA):c.*9G>T	LRBA	Single nucleotide variant (3 prime UTR variant)	not specified	GConflicting classifications of pathogenicity
Select item 1005036	NM_001364905.1(LRBA):c.8552G>A (p.Arg2851His)	LRBA (R2850H +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 287379	NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys)	LRBA (R2862C +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +3 more	GConflicting classifications of pathogenicity
Select item 1548345	NM_001364905.1(LRBA):c.8550C>G (p.Thr2850=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2629236	NM_001364905.1(LRBA):c.8534A>G (p.His2845Arg)	LRBA (H2844R +3 more)	Single nucleotide variant (missense variant)	LRBA-related disorder	GUncertain significance
Select item 540394	NM_001364905.1(LRBA):c.8531G>A (p.Trp2844Ter)	LRBA (W2855* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1123458	NM_001364905.1(LRBA):c.8529G>T (p.Arg2843=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 857551	NM_001364905.1(LRBA):c.8528G>A (p.Arg2843Gln)	LRBA (R2854Q +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 968943	NM_001364905.1(LRBA):c.8527C>T (p.Arg2843Trp)	LRBA (R2843W +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 1550353	NM_001364905.1(LRBA):c.8526C>T (p.Asn2842=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 1425772	NM_001364905.1(LRBA):c.8515_8517del (p.Asn2839del)	LRBA (N2838del +3 more)	Deletion (inframe_deletion)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 724342	NM_001364905.1(LRBA):c.8517C>T (p.Asn2839=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GLikely benign
Select item 836509	NM_001364905.1(LRBA):c.8515A>G (p.Asn2839Asp)	LRBA (N2838D +3 more)	Single nucleotide variant (missense variant)	LRBA-related disorder +1 more	GUncertain significance
Select item 652172	NM_001364905.1(LRBA):c.8513A>C (p.Tyr2838Ser)	LRBA (Y2849S +3 more)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 939399	NM_001364905.1(LRBA):c.8508_8510dup (p.Leu2836dup)	LRBA	Duplication (inframe_insertion)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 1463777	NM_001364905.1(LRBA):c.8506C>G (p.Leu2836Val)	LRBA (L2835V +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 1957084	NM_001364905.1(LRBA):c.8500A>G (p.Ile2834Val)	LRBA (I2839V +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 1380601	NM_001364905.1(LRBA):c.8499C>A (p.Ser2833Arg)	LRBA (S2838R +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 1092830	NM_001364905.1(LRBA):c.8481T>C (p.Ser2827=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 962138	NM_001364905.1(LRBA):c.8469-1G>C	LRBA	Single nucleotide variant (splice acceptor variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 1545803	NM_001364905.1(LRBA):c.8469-10C>T	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2955088	NM_001364905.1(LRBA):c.8469-13G>C	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 1564044	NM_001364905.1(LRBA):c.8469-19CT[4]	LRBA	Microsatellite (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 1673084	NM_001364905.1(LRBA):c.8469-20_8469-18del	LRBA	Deletion (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 1265200	NM_001364905.1(LRBA):c.8469-52_8469-48dup	LRBA	Duplication (intron variant)	not provided	GBenign
Select item 2688430	NM_001364905.1(LRBA):c.8469-487A>C	LRBA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688468	NM_001364905.1(LRBA):c.8469-707_8469-705dup	LRBA	Duplication (intron variant)	not specified	GBenign
Select item 1257255	NM_001364905.1(LRBA):c.8468+182A>T	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272209	NM_001364905.1(LRBA):c.8468+132G>A	LRBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2704827	NM_001364905.1(LRBA):c.8468+19G>T	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2128949	NM_001364905.1(LRBA):c.8468+19G>A	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 1576882	NM_001364905.1(LRBA):c.8468+17G>C	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 1119271	NM_001364905.1(LRBA):c.8468+10G>T	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 1093574	NM_001364905.1(LRBA):c.8468+10del	LRBA	Deletion (intron variant)	Combined immunodeficiency due to LRBA deficiency	GConflicting classifications of pathogenicity
Select item 1540371	NM_001364905.1(LRBA):c.8468+9G>A	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 1661434	NM_001364905.1(LRBA):c.8468+7C>G	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 1060063	NM_001364905.1(LRBA):c.8468+5C>T	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 1435591	NM_001364905.1(LRBA):c.8468+3A>G	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 540401	NM_001364905.1(LRBA):c.8461G>A (p.Asp2821Asn)	LRBA (D2832N +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +2 more	GUncertain significance
Select item 714618	NM_001364905.1(LRBA):c.8460C>T (p.Tyr2820=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GBenign
Select item 645582	NM_001364905.1(LRBA):c.8458T>C (p.Tyr2820His)	LRBA (Y2825H +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 1650281	NM_001364905.1(LRBA):c.8454G>T (p.Leu2818=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 3021136	NM_001364905.1(LRBA):c.8451G>T (p.Ala2817=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 1116177	NM_001364905.1(LRBA):c.8451G>A (p.Ala2817=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 809687	NM_001364905.1(LRBA):c.8450C>T (p.Ala2817Val)	LRBA (A2817V +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 954329	NM_001364905.1(LRBA):c.8446A>G (p.Met2816Val)	LRBA (M2821V +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 1484581	NM_001364905.1(LRBA):c.8443G>A (p.Ala2815Thr)	LRBA (A2820T +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 649387	NM_001364905.1(LRBA):c.8441G>A (p.Arg2814Gln)	LRBA (R2819Q +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 568471	NM_001364905.1(LRBA):c.8440C>T (p.Arg2814Trp)	LRBA (R2814W +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1411588	NM_001364905.1(LRBA):c.8431G>T (p.Ala2811Ser)	LRBA (A2811S +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 969835	NM_001364905.1(LRBA):c.8431G>A (p.Ala2811Thr)	LRBA (A2816T +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 1416030	NM_001364905.1(LRBA):c.8430C>G (p.Asp2810Glu)	LRBA (D2809E +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GUncertain significance
Select item 1078919	NM_001364905.1(LRBA):c.8430C>T (p.Asp2810=)	LRBA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1695112	NM_001364905.1(LRBA):c.8426G>A (p.Cys2809Tyr)	LRBA (C2808Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2481492	NM_001364905.1(LRBA):c.8423G>T (p.Gly2808Val)	LRBA (G2808V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 827718	NM_001364905.1(LRBA):c.8422G>T (p.Gly2808Ter)	LRBA (G2807* +3 more)	Single nucleotide variant (nonsense)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 1141511	NM_001364905.1(LRBA):c.8421A>G (p.Pro2807=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2073005	NM_001364905.1(LRBA):c.8409C>T (p.Leu2803=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 1496522	NM_001364905.1(LRBA):c.8406G>C (p.Gln2802His)	LRBA (Q2801H +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 713202	NM_001364905.1(LRBA):c.8403G>C (p.Lys2801Asn)	LRBA (K2801N +3 more)	Single nucleotide variant (missense variant)	LRBA-related disorder +1 more	GBenign/Likely benign
Select item 2751283	NM_001364905.1(LRBA):c.8394G>C (p.Ser2798=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 1960763	NM_001364905.1(LRBA):c.8394G>A (p.Ser2798=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 403047	NM_001364905.1(LRBA):c.8393C>T (p.Ser2798Leu)	LRBA (S2809L +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 962504	NM_001364905.1(LRBA):c.8384G>A (p.Arg2795Gln)	LRBA (R2794Q +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 1019383	NM_001364905.1(LRBA):c.8377G>A (p.Val2793Met)	LRBA (V2792M +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 2159513	NM_001364905.1(LRBA):c.8376C>T (p.Val2792=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2323669	NM_001364905.1(LRBA):c.8368G>A (p.Gly2790Arg)	LRBA (G2789R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1039230	NM_001364905.1(LRBA):c.8365A>G (p.Arg2789Gly)	LRBA (R2794G +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 1487683	NM_001364905.1(LRBA):c.8364C>G (p.Asp2788Glu)	LRBA (D2793E +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 1939435	NM_001364905.1(LRBA):c.8362G>A (p.Asp2788Asn)	LRBA (D2787N +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 636668	NM_001364905.1(LRBA):c.8350C>T (p.Leu2784Phe)	LRBA (L2784F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 943255	NM_001364905.1(LRBA):c.8333G>A (p.Arg2778Gln)	LRBA (R2789Q +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 648944	NM_001364905.1(LRBA):c.8332C>T (p.Arg2778Ter)	LRBA (R2777* +3 more)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to LRBA deficiency	GPathogenic
Select item 2982657	NM_001364905.1(LRBA):c.8331C>T (p.Ser2777=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 540415	NM_001364905.1(LRBA):c.8328G>A (p.Leu2776=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency +1 more	GBenign
Select item 1035642	NM_001364905.1(LRBA):c.8318C>T (p.Ala2773Val)	LRBA (A2772V +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 571100	NM_001364905.1(LRBA):c.8317G>A (p.Ala2773Thr)	LRBA (A2784T +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 1147216	NM_001364905.1(LRBA):c.8317-9G>A	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 779594	NM_001364905.1(LRBA):c.8317-341T>C	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GBenign
Select item 1564066	NM_001364905.1(LRBA):c.8316+18T>C	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2814598	NM_001364905.1(LRBA):c.8316+13G>A	LRBA	Single nucleotide variant (intron variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 3016634	NM_001364905.1(LRBA):c.8307T>C (p.Asp2769=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2096010	NM_001364905.1(LRBA):c.8307T>A (p.Asp2769Glu)	LRBA (D2769E +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 2130062	NM_001364905.1(LRBA):c.8305G>A (p.Asp2769Asn)	LRBA (D2774N +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 856341	NM_001364905.1(LRBA):c.8299A>G (p.Thr2767Ala)	LRBA (T2766A +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 964012	NM_001364905.1(LRBA):c.8295G>A (p.Met2765Ile)	LRBA (M2765I +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 1110682	NM_001364905.1(LRBA):c.8292G>A (p.Thr2764=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2167145	NM_001364905.1(LRBA):c.8291C>T (p.Thr2764Met)	LRBA (T2763M +3 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to LRBA deficiency	GUncertain significance
Select item 1625368	NM_001364905.1(LRBA):c.8286G>A (p.Gln2762=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign
Select item 2797793	NM_001364905.1(LRBA):c.8283C>T (p.Leu2761=)	LRBA	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to LRBA deficiency	GLikely benign

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