18582[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC132088736, LOC132088737 +557 more	Copy number loss	See cases	GPathogenic
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 144500	GRCh38/hg38 1p31.1(chr1:78680456-81327787)x3	ADGRL2, ADGRL4 +8 more	Copy number gain	See cases	GUncertain significance
Select item 147870	GRCh38/hg38 1p31.1(chr1:80621564-82040802)x1	ADGRL2, LINC01781 +5 more	Copy number loss	See cases	GBenign
Select item 151317	GRCh38/hg38 1p31.1(chr1:80970822-81457887)x4	ADGRL2, LOC120893143 +1 more	Copy number gain	See cases	GBenign
Select item 3058339	NM_001366006.2(ADGRL2):c.-9G>A	ADGRL2	Single nucleotide variant (5 prime UTR variant +1 more)	ADGRL2-related disorder	GLikely benign
Select item 2589260	NM_001366006.2(ADGRL2):c.8C>T (p.Ser3Phe)	ADGRL2 (S3F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638898	NM_001366006.2(ADGRL2):c.26G>A (p.Arg9Gln)	ADGRL2 (R9Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3087570	NM_001366006.2(ADGRL2):c.44T>C (p.Ile15Thr)	ADGRL2 (I15T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296825	NM_001366006.2(ADGRL2):c.94C>G (p.Pro32Ala)	ADGRL2 (P32A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638899	NM_001366006.2(ADGRL2):c.123C>T (p.Ser41=)	ADGRL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2336246	NM_001366006.2(ADGRL2):c.145C>G (p.Leu49Val)	ADGRL2 (L49V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383240	NM_001366006.2(ADGRL2):c.175A>G (p.Ile59Val)	ADGRL2 (I59V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297309	NM_001366006.2(ADGRL2):c.288G>T (p.Arg96Ser)	ADGRL2 (R96S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039606	NM_001366006.2(ADGRL2):c.321T>A (p.Thr107=)	ADGRL2	Single nucleotide variant (synonymous variant +1 more)	ADGRL2-related disorder	GLikely benign
Select item 2326681	NM_001366006.2(ADGRL2):c.571G>T (p.Ala191Ser)	ADGRL2 (A187S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300944	NM_001366006.2(ADGRL2):c.613T>C (p.Tyr205His)	ADGRL2 (Y205H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617335	NM_001366006.2(ADGRL2):c.905T>A (p.Phe302Tyr)	ADGRL2 (F302Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638900	NM_001366006.2(ADGRL2):c.1026C>T (p.Asn342=)	ADGRL2	Single nucleotide variant (synonymous variant +1 more)	ADGRL2-related disorder +1 more	GLikely benign
Select item 3087408	NM_001366006.2(ADGRL2):c.1105A>G (p.Ile369Val)	ADGRL2 (I369V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607992	NM_001366006.2(ADGRL2):c.1157A>G (p.Asn386Ser)	ADGRL2 (N386S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229293	NM_001366006.2(ADGRL2):c.1177T>C (p.Ser393Pro)	ADGRL2 (S389P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525856	NM_001366006.2(ADGRL2):c.1204G>A (p.Ala402Thr)	ADGRL2 (A398T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464096	NM_001366006.2(ADGRL2):c.1249C>G (p.Leu417Val)	ADGRL2 (L413V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456722	NM_001366006.2(ADGRL2):c.1268C>T (p.Ser423Leu)	ADGRL2 (S419L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225217	NM_001366006.2(ADGRL2):c.1288C>G (p.Gln430Glu)	ADGRL2 (Q430E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055525	NM_001366006.2(ADGRL2):c.1320A>T (p.Gly440=)	ADGRL2	Single nucleotide variant (synonymous variant +1 more)	ADGRL2-related disorder	GBenign
Select item 2483413	NM_001366006.2(ADGRL2):c.1361T>C (p.Val454Ala)	ADGRL2 (V450A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 740851	NM_001366006.2(ADGRL2):c.1389A>G (p.Thr463=)	ADGRL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3087438	NM_001366006.2(ADGRL2):c.1519C>T (p.Leu507Phe)	ADGRL2 (L503F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087441	NM_001366006.2(ADGRL2):c.1525A>G (p.Met509Val)	ADGRL2 (M505V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615819	NM_001366006.2(ADGRL2):c.1552A>G (p.Lys518Glu)	ADGRL2 (K518E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607273	NM_001366006.2(ADGRL2):c.1574G>A (p.Cys525Tyr)	ADGRL2 (C521Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038465	NM_001366006.2(ADGRL2):c.1617C>T (p.Ser539=)	ADGRL2	Single nucleotide variant (synonymous variant +1 more)	ADGRL2-related disorder	GLikely benign
Select item 779220	NM_001366006.2(ADGRL2):c.1664A>G (p.Lys555Arg)	ADGRL2 (K551R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2207896	NM_001366006.2(ADGRL2):c.1699G>A (p.Val567Met)	ADGRL2 (V563M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3045309	NM_001366006.2(ADGRL2):c.1734T>C (p.Asp578=)	ADGRL2	Single nucleotide variant (synonymous variant +1 more)	ADGRL2-related disorder	GBenign
Select item 3035183	NM_001366006.2(ADGRL2):c.1741C>T (p.Leu581=)	ADGRL2	Single nucleotide variant (synonymous variant +1 more)	ADGRL2-related disorder	GLikely benign
Select item 3051598	NM_001366006.2(ADGRL2):c.1890A>G (p.Lys630=)	ADGRL2	Single nucleotide variant (synonymous variant +1 more)	ADGRL2-related disorder	GLikely benign
Select item 3087459	NM_001366006.2(ADGRL2):c.1913C>G (p.Ala638Gly)	ADGRL2 (A638G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087463	NM_001366006.2(ADGRL2):c.2015T>C (p.Ile672Thr)	ADGRL2 (I655T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231793	NM_001366006.2(ADGRL2):c.2032G>T (p.Val678Leu)	ADGRL2 (V661L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2209603	NM_001366006.2(ADGRL2):c.2077G>A (p.Gly693Ser)	ADGRL2 (G676S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307490	NM_001366006.2(ADGRL2):c.2113G>A (p.Ala705Thr)	ADGRL2 (A688T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3053105	NM_001366006.2(ADGRL2):c.2240G>T (p.Arg747Leu)	ADGRL2 (R730L +2 more)	Single nucleotide variant (missense variant +1 more)	ADGRL2-related disorder	GLikely benign
Select item 2638901	NM_001366006.2(ADGRL2):c.2277A>G (p.Ser759=)	ADGRL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 743281	NM_001366006.2(ADGRL2):c.2295G>A (p.Glu765=)	ADGRL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638902	NM_001366006.2(ADGRL2):c.2298C>T (p.Ser766=)	ADGRL2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2457518	NM_001366006.2(ADGRL2):c.2465C>T (p.Thr822Met)	ADGRL2 (T805M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087486	NM_001366006.2(ADGRL2):c.2594G>C (p.Cys865Ser)	ADGRL2 (C848S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329581	NM_001366006.2(ADGRL2):c.2641A>G (p.Ser881Gly)	ADGRL2 (S881G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087494	NM_001366006.2(ADGRL2):c.2672G>C (p.Cys891Ser)	ADGRL2 (C874S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3033758	NM_001366006.2(ADGRL2):c.2734-4G>A	ADGRL2	Single nucleotide variant (intron variant)	ADGRL2-related disorder	GLikely benign
Select item 2294710	NM_001366006.2(ADGRL2):c.2773T>A (p.Phe925Ile)	ADGRL2 (F908I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087499	NM_001366006.2(ADGRL2):c.2866T>A (p.Tyr956Asn)	ADGRL2 (Y939N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250260	NM_001366006.2(ADGRL2):c.2917G>A (p.Ala973Thr)	ADGRL2 (A956T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346600	NM_001366006.2(ADGRL2):c.2966A>G (p.His989Arg)	ADGRL2 (H985R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302915	NM_001366006.2(ADGRL2):c.2996T>C (p.Ile999Thr)	ADGRL2 (I999T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535313	NM_001366006.2(ADGRL2):c.3065A>C (p.Lys1022Thr)	ADGRL2 (K1018T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481672	NM_001366006.2(ADGRL2):c.3092C>G (p.Ser1031Cys)	ADGRL2 (S1027C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484197	NM_001366006.2(ADGRL2):c.3122T>G (p.Val1041Gly)	ADGRL2 (V1024G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336590	NM_001366006.2(ADGRL2):c.3269C>T (p.Ala1090Val)	ADGRL2 (A1073V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493442	NM_001366006.2(ADGRL2):c.3334C>T (p.Leu1112Phe)	ADGRL2 (L1095F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056444	NM_001366006.2(ADGRL2):c.3381A>G (p.Arg1127=)	ADGRL2	Single nucleotide variant (synonymous variant +1 more)	ADGRL2-related disorder	GBenign
Select item 3087523	NM_001366006.2(ADGRL2):c.3392G>A (p.Arg1131His)	ADGRL2 (R1114H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087528	NM_001366006.2(ADGRL2):c.3398C>A (p.Ser1133Tyr)	ADGRL2 (S1116Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242569	NM_001366006.2(ADGRL2):c.3466T>G (p.Phe1156Val)	ADGRL2 (F1171V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2211903	NM_001366006.2(ADGRL2):c.3485A>G (p.Asn1162Ser)	ADGRL2 (N1158S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3053882	NM_001366006.2(ADGRL2):c.3509-9_3509-8del	ADGRL2	Deletion (intron variant)	ADGRL2-related disorder	GLikely benign
Select item 3038680	NM_001366006.2(ADGRL2):c.3605A>G (p.Asn1202Ser)	ADGRL2 (N1202S +1 more)	Single nucleotide variant (missense variant +2 more)	ADGRL2-related disorder	GBenign
Select item 3056110	NM_001366006.2(ADGRL2):c.3637+309A>G	ADGRL2	Single nucleotide variant (synonymous variant +3 more)	ADGRL2-related disorder	GBenign
Select item 3042802	NM_001366006.2(ADGRL2):c.3641C>A (p.Thr1214Asn)	ADGRL2 (T1214N)	Single nucleotide variant (missense variant +1 more)	ADGRL2-related disorder	GLikely benign
Select item 3042178	NM_001366006.2(ADGRL2):c.3688G>C (p.Ala1230Pro)	ADGRL2 (A1164P +3 more)	Single nucleotide variant (missense variant +2 more)	ADGRL2-related disorder	GBenign
Select item 3048503	NM_001366006.2(ADGRL2):c.3726C>T (p.Asn1242=)	ADGRL2	Single nucleotide variant (synonymous variant +2 more)	ADGRL2-related disorder	GLikely benign
Select item 3043992	NM_001366006.2(ADGRL2):c.3746G>T (p.Gly1249Val)	ADGRL2 (G1183V +3 more)	Single nucleotide variant (missense variant +2 more)	ADGRL2-related disorder	GBenign
Select item 2622229	NM_001366006.2(ADGRL2):c.3763G>C (p.Val1255Leu)	ADGRL2 (V1249L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2289056	NM_001366006.2(ADGRL2):c.3763G>A (p.Val1255Met)	ADGRL2 (V1249M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2323717	NM_001366006.2(ADGRL2):c.3779G>A (p.Cys1260Tyr)	ADGRL2 (C1254Y +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2383271	NM_001366006.2(ADGRL2):c.3790C>A (p.Leu1264Met)	ADGRL2 (L1211M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2316722	NM_001366006.2(ADGRL2):c.3847C>T (p.Arg1283Trp)	ADGRL2 (R1217W +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 784951	NM_001366006.2(ADGRL2):c.3882G>A (p.Thr1294=)	ADGRL2	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 3052915	NM_001366006.2(ADGRL2):c.3889G>A (p.Val1297Ile)	ADGRL2 (V1231I +3 more)	Single nucleotide variant (missense variant +2 more)	ADGRL2-related disorder	GBenign
Select item 2411932	NM_001366006.2(ADGRL2):c.3895C>T (p.Pro1299Ser)	ADGRL2 (P1233S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3045124	NM_001366006.2(ADGRL2):c.3913A>G (p.Ser1305Gly)	ADGRL2 (S1239G +3 more)	Single nucleotide variant (missense variant +2 more)	ADGRL2-related disorder	GBenign
Select item 2309121	NM_001366006.2(ADGRL2):c.3956T>C (p.Met1319Thr)	ADGRL2 (M1313T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2249811	NM_001366006.2(ADGRL2):c.4009C>A (p.Leu1337Ile)	ADGRL2 (L1284I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3049645	NM_001366006.2(ADGRL2):c.4013T>C (p.Ile1338Thr)	ADGRL2 (I1272T +3 more)	Single nucleotide variant (missense variant +2 more)	ADGRL2-related disorder	GLikely benign
Select item 2521199	NM_001366006.2(ADGRL2):c.4070G>A (p.Gly1357Glu)	ADGRL2 (G1304E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3037885	NM_001366006.2(ADGRL2):c.4082A>G (p.Tyr1361Cys)	ADGRL2 (Y1295C +3 more)	Single nucleotide variant (missense variant +2 more)	ADGRL2-related disorder	GBenign
Select item 3049584	NM_001366006.2(ADGRL2):c.4107T>C (p.Ala1369=)	ADGRL2	Single nucleotide variant (synonymous variant +2 more)	ADGRL2-related disorder	GLikely benign
Select item 3087560	NM_001366006.2(ADGRL2):c.4114C>T (p.His1372Tyr)	ADGRL2 (H1372Y +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3087561	NM_001366006.2(ADGRL2):c.4137C>A (p.Asp1379Glu)	ADGRL2 (D1379E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3037276	NM_001366006.2(ADGRL2):c.4166G>A (p.Arg1389Lys)	ADGRL2 (R1323K +3 more)	Single nucleotide variant (missense variant +2 more)	ADGRL2-related disorder	GBenign
Select item 3043712	NM_001366006.2(ADGRL2):c.4180C>G (p.Pro1394Ala)	ADGRL2 (P1328A +3 more)	Single nucleotide variant (missense variant +2 more)	ADGRL2-related disorder	GBenign
Select item 2288798	NM_001366006.2(ADGRL2):c.4258A>G (p.Met1420Val)	ADGRL2 (M1420V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3087564	NM_001366006.2(ADGRL2):c.4328A>G (p.Tyr1443Cys)	ADGRL2 (Y1377C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3087566	NM_001366006.2(ADGRL2):c.4377A>T (p.Arg1459Ser)	ADGRL2 (R1453S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	DNAJB4, DNASE2B +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527137	GRCh37/hg19 1p31.1(chr1:79960197-82532594)	ADGRL2, LOC101927434	Copy number gain	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic

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