ADGRL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 57362	GRCh38/hg38 19p13.13-13.12(chr19:13533925-14258833)x1	ADGRL1, ADGRL1-AS1 +87 more	Copy number loss	See cases	GUncertain significance
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 2315158	NM_014921.5(ADGRL1):c.4391A>C (p.Gln1464Pro)	ADGRL1, ADGRL1-AS1 (Q1464P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470494	NM_014921.5(ADGRL1):c.4253A>T (p.Tyr1418Phe)	ADGRL1, ADGRL1-AS1 (Y1423F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318945	NM_014921.5(ADGRL1):c.4248A>C (p.Glu1416Asp)	ADGRL1, ADGRL1-AS1 (E1421D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392217	NM_014921.5(ADGRL1):c.4228G>A (p.Ala1410Thr)	ADGRL1, ADGRL1-AS1 (A1410T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244506	NM_014921.5(ADGRL1):c.4201A>G (p.Ser1401Gly)	ADGRL1, ADGRL1-AS1 (S1401G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087308	NM_014921.5(ADGRL1):c.4198C>G (p.Pro1400Ala)	ADGRL1, ADGRL1-AS1 (P1400A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474566	NM_014921.5(ADGRL1):c.4184G>A (p.Ser1395Asn)	ADGRL1, ADGRL1-AS1 (S1400N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469812	NM_014921.5(ADGRL1):c.4180G>A (p.Asp1394Asn)	ADGRL1, ADGRL1-AS1 (D1394N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245602	NM_014921.5(ADGRL1):c.4178C>G (p.Pro1393Arg)	ADGRL1, ADGRL1-AS1 (P1398R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087297	NM_014921.5(ADGRL1):c.4139A>G (p.Tyr1380Cys)	ADGRL1, ADGRL1-AS1 (Y1380C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065132	NM_014921.5(ADGRL1):c.4136T>G (p.Leu1379Arg)	ADGRL1, ADGRL1-AS1 (L1379R +1 more)	Single nucleotide variant (missense variant)	Developmental delay, behavioral abnormalities, and neuropsychiatric disorders	GUncertain significance
Select item 2226804	NM_014921.5(ADGRL1):c.4135C>G (p.Leu1379Val)	ADGRL1, ADGRL1-AS1 (L1379V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2692453	NM_014921.5(ADGRL1):c.4131C>A (p.Asp1377Glu)	ADGRL1, ADGRL1-AS1 (D1377E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2363459	NM_014921.5(ADGRL1):c.4126C>G (p.Arg1376Gly)	ADGRL1, ADGRL1-AS1 (R1381G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371054	NM_014921.5(ADGRL1):c.4090G>A (p.Gly1364Ser)	ADGRL1, ADGRL1-AS1 (G1364S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366014	NM_014921.5(ADGRL1):c.4084G>C (p.Glu1362Gln)	ADGRL1, ADGRL1-AS1 (E1367Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322924	NM_014921.5(ADGRL1):c.4076G>A (p.Cys1359Tyr)	ADGRL1, ADGRL1-AS1 (C1364Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326486	NM_014921.5(ADGRL1):c.4054G>A (p.Asp1352Asn)	ADGRL1, ADGRL1-AS1 (D1352N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607874	NM_014921.5(ADGRL1):c.3974G>A (p.Arg1325Gln)	ADGRL1, ADGRL1-AS1 (R1330Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406123	NM_014921.5(ADGRL1):c.3965G>T (p.Gly1322Val)	ADGRL1, ADGRL1-AS1 (G1322V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205035	NM_014921.5(ADGRL1):c.3961G>A (p.Gly1321Arg)	ADGRL1-AS1, ADGRL1 (G1321R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087266	NM_014921.5(ADGRL1):c.3934G>A (p.Gly1312Arg)	ADGRL1, ADGRL1-AS1 (G1317R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254845	NM_014921.5(ADGRL1):c.3922G>A (p.Val1308Met)	ADGRL1, ADGRL1-AS1 (V1313M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649415	NM_014921.5(ADGRL1):c.3851T>C (p.Val1284Ala)	ADGRL1, ADGRL1-AS1 (V1284A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3087248	NM_014921.5(ADGRL1):c.3850G>A (p.Val1284Met)	ADGRL1, ADGRL1-AS1 (V1284M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524545	NM_014921.5(ADGRL1):c.3800G>A (p.Arg1267Gln)	ADGRL1, ADGRL1-AS1 (R1272Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315495	NM_014921.5(ADGRL1):c.3752G>C (p.Ser1251Thr)	ADGRL1, ADGRL1-AS1 (S1251T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2682363	NM_014921.5(ADGRL1):c.3712C>A (p.Pro1238Thr)	ADGRL1, ADGRL1-AS1 (P1238T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3068911	NM_014921.5(ADGRL1):c.3652A>G (p.Ser1218Gly)	ADGRL1, ADGRL1-AS1 (S1218G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295676	NM_014921.5(ADGRL1):c.3601G>A (p.Glu1201Lys)	ADGRL1, ADGRL1-AS1 (E1201K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375855	NM_014921.5(ADGRL1):c.3565C>T (p.Arg1189Cys)	ADGRL1, ADGRL1-AS1 (R1189C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1700606	NM_014921.5(ADGRL1):c.3517C>T (p.Arg1173Ter)	ADGRL1, ADGRL1-AS1 (R1173* +1 more)	Single nucleotide variant (nonsense)	Specific learning disability +2 more	GPathogenic
Select item 3087225	NM_014921.5(ADGRL1):c.3484G>A (p.Ala1162Thr)	ADGRL1, ADGRL1-AS1 (A1162T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1700604	NM_014921.5(ADGRL1):c.3476C>T (p.Ser1159Phe)	ADGRL1, ADGRL1-AS1 (S1159F +1 more)	Single nucleotide variant (missense variant)	Seizure +3 more	GPathogenic
Select item 3087223	NM_014921.5(ADGRL1):c.3467C>T (p.Thr1156Met)	ADGRL1, ADGRL1-AS1 (T1161M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1700600	NM_014921.5(ADGRL1):c.3440T>C (p.Met1147Thr)	ADGRL1, ADGRL1-AS1 (M1147T +1 more)	Single nucleotide variant (missense variant)	Global developmental delay	GPathogenic
Select item 2627824	NM_014921.5(ADGRL1):c.3427C>T (p.Arg1143Ter)	ADGRL1, ADGRL1-AS1 (R1143* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GUncertain significance
Select item 3087220	NM_014921.5(ADGRL1):c.3414_3415del (p.Gly1139fs)	ADGRL1, ADGRL1-AS1 (G1139fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1700601	NM_014921.5(ADGRL1):c.3391C>T (p.Arg1131Ter)	ADGRL1, ADGRL1-AS1 (R1131* +1 more)	Single nucleotide variant (nonsense)	Specific learning disability +1 more	GPathogenic
Select item 2321860	NM_014921.5(ADGRL1):c.3379A>G (p.Thr1127Ala)	ADGRL1, ADGRL1-AS1 (T1127A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293905	NM_014921.5(ADGRL1):c.3344G>C (p.Arg1115Pro)	ADGRL1, ADGRL1-AS1 (R1115P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296453	NM_014921.5(ADGRL1):c.3329C>G (p.Ser1110Cys)	ADGRL1, ADGRL1-AS1 (S1110C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3234823	NM_014921.5(ADGRL1):c.3325C>T (p.His1109Tyr)	ADGRL1, ADGRL1-AS1 (H1109Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3236554	NM_014921.5(ADGRL1):c.3323G>A (p.Arg1108His)	ADGRL1, ADGRL1-AS1 (R1108H +1 more)	Single nucleotide variant (missense variant)	Developmental delay, behavioral abnormalities, and neuropsychiatric disorders	GUncertain significance
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 747994	NM_014921.5(ADGRL1):c.3294+9G>A	ADGRL1, ADGRL1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2663877	NM_014921.5(ADGRL1):c.3256dup (p.Val1086fs)	ADGRL1, ADGRL1-AS1 (V1086fs +1 more)	Duplication (non-coding transcript variant +1 more)	Developmental delay, behavioral abnormalities, and neuropsychiatric disorders	GPathogenic
Select item 755784	NM_014921.5(ADGRL1):c.3243C>T (p.Asn1081=)	ADGRL1, ADGRL1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2523663	NM_014921.5(ADGRL1):c.3148G>A (p.Ala1050Thr)	ADGRL1, ADGRL1-AS1 (A1050T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557842	NM_014921.5(ADGRL1):c.3134C>T (p.Ala1045Val)	ADGRL1, ADGRL1-AS1 (A1050V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535097	NM_014921.5(ADGRL1):c.3022T>G (p.Phe1008Val)	ADGRL1, ADGRL1-AS1 (F1013V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2692481	NM_014921.5(ADGRL1):c.3001A>C (p.Ser1001Arg)	ADGRL1, ADGRL1-AS1 (S1001R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700599	NM_014921.5(ADGRL1):c.2998T>C (p.Trp1000Arg)	ADGRL1, ADGRL1-AS1 (W1000R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +3 more	GPathogenic
Select item 3087203	NM_014921.5(ADGRL1):c.2923A>G (p.Ile975Val)	ADGRL1, ADGRL1-AS1 (I980V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087201	NM_014921.5(ADGRL1):c.2710C>T (p.Leu904Phe)	ADGRL1, ADGRL1-AS1 (L904F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068406	NM_014921.5(ADGRL1):c.2644G>T (p.Gly882Trp)	ADGRL1-AS1, ADGRL1 (G882W +1 more)	Single nucleotide variant (missense variant)	Developmental delay, behavioral abnormalities, and neuropsychiatric disorders	GUncertain significance
Select item 3087198	NM_014921.5(ADGRL1):c.2567C>A (p.Ser856Ter)	ADGRL1, ADGRL1-AS1 (S856* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2240413	NM_014921.5(ADGRL1):c.2555A>G (p.Glu852Gly)	ADGRL1, ADGRL1-AS1 (E852G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3025818	NM_014921.5(ADGRL1):c.2529T>G (p.Arg843=)	ADGRL1, ADGRL1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2336074	NM_014921.5(ADGRL1):c.2528G>A (p.Arg843His)	ADGRL1, ADGRL1-AS1 (R843H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332976	NM_014921.5(ADGRL1):c.2527C>T (p.Arg843Cys)	ADGRL1, ADGRL1-AS1 (R843C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613392	NM_014921.5(ADGRL1):c.2435C>T (p.Ser812Leu)	ADGRL1, ADGRL1-AS1 (S817L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063758	NM_014921.5(ADGRL1):c.2270_2271del (p.Val757fs)	ADGRL1, ADGRL1-AS1 (V757fs +1 more)	Deletion (frameshift variant)	Developmental delay, behavioral abnormalities, and neuropsychiatric disorders	GPathogenic
Select item 3087184	NM_014921.5(ADGRL1):c.2260G>A (p.Ala754Thr)	ADGRL1, ADGRL1-AS1 (A759T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588912	NM_014921.5(ADGRL1):c.2230G>A (p.Gly744Ser)	ADGRL1, ADGRL1-AS1 (G749S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569022	NM_014921.5(ADGRL1):c.2228C>A (p.Ala743Asp)	ADGRL1, ADGRL1-AS1 (A743D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550258	NM_014921.5(ADGRL1):c.2065G>A (p.Glu689Lys)	ADGRL1, ADGRL1-AS1 (E694K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1700605	NM_014921.5(ADGRL1):c.2049dup (p.Glu684fs)	ADGRL1, ADGRL1-AS1 (E684fs +1 more)	Duplication (frameshift variant)	Seizure +3 more	GPathogenic
Select item 3087171	NM_014921.5(ADGRL1):c.2029G>C (p.Glu677Gln)	ADGRL1, ADGRL1-AS1 (E682Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068912	NM_014921.5(ADGRL1):c.1910C>G (p.Thr637Arg)	ADGRL1, ADGRL1-AS1 (T637R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649416	NM_014921.5(ADGRL1):c.1890C>G (p.Ser630=)	ADGRL1, ADGRL1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2292630	NM_014921.5(ADGRL1):c.1878A>T (p.Glu626Asp)	ADGRL1, ADGRL1-AS1 (E631D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388324	NM_014921.5(ADGRL1):c.1843G>A (p.Val615Met)	ADGRL1, ADGRL1-AS1 (V615M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520684	NM_014921.5(ADGRL1):c.1772G>A (p.Arg591His)	ADGRL1, ADGRL1-AS1 (R596H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087164	NM_014921.5(ADGRL1):c.1697C>T (p.Ser566Phe)	ADGRL1, ADGRL1-AS1 (S566F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589639	NM_014921.5(ADGRL1):c.1684G>A (p.Ala562Thr)	ADGRL1, ADGRL1-AS1 (A567T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1050235	NM_014921.5(ADGRL1):c.1670G>A (p.Arg557Gln)	ADGRL1, ADGRL1-AS1 (R557Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261752	NM_014921.5(ADGRL1):c.1664A>G (p.His555Arg)	ADGRL1, ADGRL1-AS1 (H555R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211127	NM_014921.5(ADGRL1):c.1661G>A (p.Arg554Gln)	ADGRL1, ADGRL1-AS1 (R559Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296482	NM_014921.5(ADGRL1):c.1642A>G (p.Ile548Val)	ADGRL1, ADGRL1-AS1 (I553V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649417	NM_014921.5(ADGRL1):c.1623T>C (p.Ser541=)	ADGRL1, ADGRL1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2281216	NM_014921.5(ADGRL1):c.1508G>A (p.Arg503Gln)	ADGRL1, ADGRL1-AS1 (R503Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087144	NM_014921.5(ADGRL1):c.1477C>G (p.Leu493Val)	ADGRL1, ADGRL1-AS1 (L493V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087140	NM_014921.5(ADGRL1):c.1445G>A (p.Arg482Gln)	ADGRL1, ADGRL1-AS1 (R487Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582968	NM_014921.5(ADGRL1):c.1432C>T (p.Arg478Ter)	ADGRL1, ADGRL1-AS1 (R478* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2349215	NM_014921.5(ADGRL1):c.1382G>A (p.Arg461Gln)	ADGRL1, ADGRL1-AS1 (R466Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087129	NM_014921.5(ADGRL1):c.1371C>T (p.Pro457=)	ADGRL1, ADGRL1-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2362225	NM_014921.5(ADGRL1):c.1339C>T (p.Pro447Ser)	ADGRL1, ADGRL1-AS1 (P452S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548760	NM_014921.5(ADGRL1):c.1289G>A (p.Arg430His)	ADGRL1, ADGRL1-AS1 (R435H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526805	NM_014921.5(ADGRL1):c.1270G>A (p.Ala424Thr)	ADGRL1, ADGRL1-AS1 (A424T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259039	NM_014921.5(ADGRL1):c.1265C>T (p.Ser422Leu)	ADGRL1, ADGRL1-AS1 (S427L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773899	NM_014921.5(ADGRL1):c.1258A>T (p.Thr420Ser)	ADGRL1, ADGRL1-AS1 (T420S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3087120	NM_014921.5(ADGRL1):c.1207T>G (p.Ser403Ala)	ADGRL1, ADGRL1-AS1 (S403A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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