ADGRL3[gene] - ClinVar

Search results

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	See cases	GPathogenic
Select item 145654	GRCh38/hg38 4q13.1(chr4:61178277-62895417)x1	ADGRL3, ADGRL3-AS1 +8 more	Copy number loss	See cases	GLikely benign
Select item 154466	GRCh38/hg38 4q13.1(chr4:61356169-62527994)x3	ADGRL3, ADGRL3-AS1 +7 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 148603	GRCh38/hg38 4q13.1(chr4:61375984-61631530)x1	ADGRL3, LOC121053182	Copy number loss	See cases	GUncertain significance
Select item 3272355	NM_001387552.1(ADGRL3):c.260C>G (p.Ala87Gly)	ADGRL3 (A19G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546572	NM_001387552.1(ADGRL3):c.296G>A (p.Arg99His)	ADGRL3 (R31H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282061	NM_001387552.1(ADGRL3):c.358A>G (p.Met120Val)	ADGRL3 (M52V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087630	NM_001387552.1(ADGRL3):c.530C>T (p.Pro177Leu)	ADGRL3 (P109L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654778	NM_001387552.1(ADGRL3):c.675G>A (p.Ala225=)	ADGRL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2570159	NM_001387552.1(ADGRL3):c.728C>G (p.Thr243Ser)	ADGRL3 (T243S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462658	NM_001387552.1(ADGRL3):c.778A>G (p.Ile260Val)	ADGRL3 (I187V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087684	NM_001387552.1(ADGRL3):c.793A>G (p.Thr265Ala)	ADGRL3 (T103A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209232	NM_001387552.1(ADGRL3):c.1078C>G (p.Pro360Ala)	ADGRL3 (P287A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391780	NM_001387552.1(ADGRL3):c.1251G>T (p.Lys417Asn)	ADGRL3 (K349N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272378	NM_001387552.1(ADGRL3):c.1391G>T (p.Ser464Ile)	ADGRL3 (S396I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324105	NM_001387552.1(ADGRL3):c.1471T>C (p.Ser491Pro)	ADGRL3 (S418P +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3272414	NM_001387552.1(ADGRL3):c.1472C>G (p.Ser491Cys)	ADGRL3 (S329C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087583	NM_001387552.1(ADGRL3):c.1514G>A (p.Ser505Asn)	ADGRL3 (S432N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331588	NM_001387552.1(ADGRL3):c.1537C>T (p.Arg513Trp)	ADGRL3 (R346W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257258	NM_001387552.1(ADGRL3):c.1638T>C (p.Asp546=)	ADGRL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3272434	NM_001387552.1(ADGRL3):c.1667C>T (p.Ser556Leu)	ADGRL3 (S389L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520718	NM_001387552.1(ADGRL3):c.1693A>G (p.Ser565Gly)	ADGRL3 (S492G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364110	NM_001387552.1(ADGRL3):c.1739G>A (p.Arg580His)	ADGRL3 (R413H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272425	NM_001387552.1(ADGRL3):c.1745G>A (p.Gly582Glu)	ADGRL3 (G415E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087598	NM_001387552.1(ADGRL3):c.1780A>G (p.Ile594Val)	ADGRL3 (I427V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253275	NM_001387552.1(ADGRL3):c.1781T>C (p.Ile594Thr)	ADGRL3 (I427T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220227	NM_001387552.1(ADGRL3):c.1876A>G (p.Ile626Val)	ADGRL3 (I558V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272386	NM_001387552.1(ADGRL3):c.2366A>T (p.His789Leu)	ADGRL3 (H622L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399002	NM_001387552.1(ADGRL3):c.2451C>A (p.Asn817Lys)	ADGRL3 (N749K +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272404	NM_001387552.1(ADGRL3):c.2471C>T (p.Ser824Phe)	ADGRL3 (S806F +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359555	NM_001387552.1(ADGRL3):c.2501C>T (p.Thr834Met)	ADGRL3 (T740M +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087608	NM_001387552.1(ADGRL3):c.2545G>A (p.Val849Ile)	ADGRL3 (V682I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272371	NM_001387552.1(ADGRL3):c.2651C>G (p.Pro884Arg)	ADGRL3 (P798R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341429	NM_001387552.1(ADGRL3):c.2681G>A (p.Arg894His)	ADGRL3 (R826H +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087610	NM_001387552.1(ADGRL3):c.2717G>A (p.Arg906Gln)	ADGRL3 (R812Q +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496545	NM_001387552.1(ADGRL3):c.2740C>T (p.His914Tyr)	ADGRL3 (H828Y +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538629	NM_001387552.1(ADGRL3):c.2746A>G (p.Thr916Ala)	ADGRL3 (T822A +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272373	NM_001387552.1(ADGRL3):c.2819T>C (p.Val940Ala)	ADGRL3 (V773A +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616809	NM_001387552.1(ADGRL3):c.2923A>G (p.Ser975Gly)	ADGRL3 (S889G +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556774	NM_001387552.1(ADGRL3):c.2957T>G (p.Ile986Ser)	ADGRL3 (I819S +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462520	NM_001387552.1(ADGRL3):c.3002G>A (p.Arg1001Gln)	ADGRL3 (R920Q +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272382	NM_001387552.1(ADGRL3):c.3013C>G (p.Pro1005Ala)	ADGRL3 (P838A +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087623	NM_001387552.1(ADGRL3):c.3398A>G (p.Tyr1133Cys)	ADGRL3 (Y1115C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3272372	NM_001387552.1(ADGRL3):c.3509T>G (p.Val1170Gly)	ADGRL3 (V1075G +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475137	NM_001387552.1(ADGRL3):c.3559A>G (p.Ile1187Val)	ADGRL3 (I1011V +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087638	NM_001387552.1(ADGRL3):c.3706A>C (p.Thr1236Pro)	ADGRL3 (T1060P +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087639	NM_001387552.1(ADGRL3):c.3727C>T (p.Arg1243Cys)	ADGRL3 (R1161C +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087642	NM_001387552.1(ADGRL3):c.3859A>T (p.Thr1287Ser)	ADGRL3 (T1105S +22 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087647	NM_001387552.1(ADGRL3):c.3958C>G (p.Arg1320Gly)	ADGRL3 (R1252G +17 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3272393	NM_001387552.1(ADGRL3):c.4034A>G (p.Tyr1345Cys)	ADGRL3 (Y1249C +17 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3087650	NM_001387552.1(ADGRL3):c.4099C>T (p.Leu1367Phe)	ADGRL3 (L1258F +17 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2488622	NM_001387552.1(ADGRL3):c.4102G>T (p.Gly1368Cys)	ADGRL3 (G1186C +17 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2255546	NM_001387552.1(ADGRL3):c.4226A>C (p.Tyr1409Ser)	ADGRL3 (Y1227S +17 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3272345	NM_001387552.1(ADGRL3):c.4315G>A (p.Glu1439Lys)	ADGRL3 (E1257K +17 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3087668	NM_001387552.1(ADGRL3):c.4378G>A (p.Ala1460Thr)	ADGRL3 (A1278T +17 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2588800	NM_001387552.1(ADGRL3):c.4390G>A (p.Ala1464Thr)	ADGRL3 (A1385T +17 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3087673	NM_001387552.1(ADGRL3):c.4456G>A (p.Asp1486Asn)	ADGRL3 (D1377N +17 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2619483	NM_001387552.1(ADGRL3):c.4468A>G (p.Lys1490Glu)	ADGRL3 (K1308E +17 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2317428	NM_001387552.1(ADGRL3):c.4487G>A (p.Gly1496Asp)	ADGRL3 (G1422D +17 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3087676	NM_001387552.1(ADGRL3):c.4495A>C (p.Asn1499His)	ADGRL3 (N1317H +17 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2276668	NM_001387552.1(ADGRL3):c.4550G>T (p.Gly1517Val)	ADGRL3 (G1335V +17 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685112	GRCh37/hg19 4q13.1(chr4:62360062-62453209)x1	ADGRL3	Copy number loss	not provided	GUncertain significance
Select item 2685109	GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1	ADGRL3, AMBN +52 more	Copy number loss	not provided	GPathogenic
Select item 1527090	GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517)	ADAMTS3, ADGRL3 +58 more	Copy number loss	not specified	GPathogenic
Select item 1341313	GRCh37/hg19 4q13.1(chr4:62684816-62765507)x1	ADGRL3	Copy number loss	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 980088	GRCh37/hg19 4q13.1(chr4:62646230-63285731)x3	ADGRL3	Copy number gain	not provided	GUncertain significance
Select item 980087	GRCh37/hg19 4q13.1(chr4:62385651-62551302)x1	ADGRL3	Copy number loss	not provided	GUncertain significance
Select item 979471	GRCh37/hg19 4q13.1(chr4:62131908-62559298)x3	ADGRL3	Copy number gain	not provided	GLikely benign
Select item 814560	GRCh37/hg19 4q13.1(chr4:62859667-62944363)x1	ADGRL3	Copy number loss	not provided	GUncertain significance
Select item 814559	GRCh37/hg19 4q13.1(chr4:62844407-63436758)x3	ADGRL3	Copy number gain	not provided	GUncertain significance
Select item 635945	Single allele	ADGRL3	Deletion	Arthrogryphosis	GUncertain significance
Select item 635941	Single allele	TMPRSS11D, CENPC +6 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 624517	GRCh37/hg19 4q13.1(chr4:62241702-62525578)x3	ADGRL3	Copy number gain	not provided	GLikely benign
Select item 562919	GRCh37/hg19 4q13.1(chr4:62197441-63436758)x3	ADGRL3	Copy number gain	not provided	GLikely benign
Select item 562918	GRCh37/hg19 4q13.1(chr4:62197441-62704852)x3	ADGRL3	Copy number gain	not provided	GUncertain significance
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 254014	GRCh37/hg19 4q13.1(chr4:62789165-62881087)x1	ADGRL3	Copy number loss	See cases	GUncertain significance
Select item 253845	GRCh37/hg19 4q13.1(chr4:62910103-66106762)x3	TECRL, ADGRL3	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 87