Related gene-specific medical variations for Gene (Select 3938) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290325	NM_002299.4(LCT):c.1274C>T (p.Thr425Met)	LCT, LOC126806353 (T425M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118169	NM_002299.4(LCT):c.1346A>G (p.Gln449Arg)	LCT, LOC126806353 (Q449R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3016357	NM_002299.4(LCT):c.1533G>A (p.Gln511=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010042	NM_002299.4(LCT):c.1018C>A (p.Leu340Ile)	LCT, LOC126806353 (L340I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997205	NM_002299.4(LCT):c.986+19T>C	LCT, LCT-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2983408	NM_002299.4(LCT):c.1350G>A (p.Val450=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961279	NM_002299.4(LCT):c.1332C>T (p.Cys444=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898230	NM_002299.4(LCT):c.1542C>T (p.Ser514=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869491	NM_002299.4(LCT):c.986+16del	LCT, LCT-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2867970	NM_002299.4(LCT):c.913A>T (p.Asn305Tyr)	LCT, LCT-AS1 (N305Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2817012	NM_002299.4(LCT):c.972A>G (p.Ser324=)	LCT, LCT-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2785652	NM_002299.4(LCT):c.1257C>T (p.Thr419=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771091	NM_002299.4(LCT):c.1512G>A (p.Leu504=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712234	NM_002299.4(LCT):c.1623T>C (p.His541=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694872	NM_002299.4(LCT):c.1614G>C (p.Val538=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694164	NM_002299.4(LCT):c.1271C>A (p.Ala424Glu)	LCT, LOC126806353 (A424E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2542363	NM_002299.4(LCT):c.1443T>G (p.Ile481Met)	LCT, LOC126806353 (I481M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541976	NM_002299.4(LCT):c.1127C>A (p.Ala376Asp)	LCT, LOC126806353 (A376D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340584	NM_002299.4(LCT):c.1142C>T (p.Thr381Ile)	LCT, LOC126806353 (T381I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334985	NM_002299.4(LCT):c.1103A>G (p.Asn368Ser)	LCT, LOC126806353 (N368S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303570	NM_002299.4(LCT):c.1321G>A (p.Ala441Thr)	LCT, LOC126806353 (A441T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295007	NM_002299.4(LCT):c.1241G>T (p.Arg414Leu)	LCT, LOC126806353 (R414L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294893	NM_002299.4(LCT):c.1445A>T (p.Asp482Val)	LCT, LOC126806353 (D482V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290398	NM_002299.4(LCT):c.1268A>G (p.Gln423Arg)	LCT, LOC126806353 (Q423R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290397	NM_002299.4(LCT):c.1267C>A (p.Gln423Lys)	LCT, LOC126806353 (Q423K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260807	NM_002299.4(LCT):c.1250T>C (p.Leu417Pro)	LCT, LOC126806353 (L417P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2189854	NM_002299.4(LCT):c.914A>G (p.Asn305Ser)	LCT, LCT-AS1 (N305S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2189053	NM_002299.4(LCT):c.1188C>T (p.Asn396=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185185	NM_002299.4(LCT):c.1272G>A (p.Ala424=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130651	NM_002299.4(LCT):c.1250T>A (p.Leu417Gln)	LCT, LOC126806353 (L417Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126285	NM_002299.4(LCT):c.1234G>T (p.Asp412Tyr)	LCT, LOC126806353 (D412Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115575	NM_002299.4(LCT):c.1419C>T (p.Gly473=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2089561	NM_002299.4(LCT):c.1271C>T (p.Ala424Val)	LCT, LOC126806353 (A424V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2066187	NM_002299.4(LCT):c.1154G>T (p.Gly385Val)	LCT, LOC126806353 (G385V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2033924	NM_002299.4(LCT):c.1608G>A (p.Leu536=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2008900	NM_002299.4(LCT):c.1474A>G (p.Met492Val)	LCT, LOC126806353 (M492V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963118	NM_002299.4(LCT):c.1645G>A (p.Ala549Thr)	LCT, LOC126806353 (A549T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961355	NM_002299.4(LCT):c.1585A>G (p.Thr529Ala)	LCT, LOC126806353 (T529A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947053	NM_002299.4(LCT):c.925G>A (p.Val309Met)	LCT, LCT-AS1 (V309M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1939380	NM_002299.4(LCT):c.988A>G (p.Met330Val)	LCT, LOC126806353 (M330V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939009	NM_002299.4(LCT):c.1543G>A (p.Val515Met)	LCT, LOC126806353 (V515M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933663	NM_002299.4(LCT):c.1553C>A (p.Ala518Asp)	LCT, LOC126806353 (A518D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920944	NM_002299.4(LCT):c.1396G>A (p.Gly466Arg)	LCT, LOC126806353 (G466R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919503	NM_002299.4(LCT):c.1043A>T (p.His348Leu)	LCT, LOC126806353 (H348L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918552	NM_002299.4(LCT):c.1291G>A (p.Asp431Asn)	LCT, LOC126806353 (D431N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918047	NM_002299.4(LCT):c.1281G>A (p.Glu427=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915386	NM_002299.4(LCT):c.1546G>A (p.Val516Met)	LCT, LOC126806353 (V516M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912819	NM_002299.4(LCT):c.1058C>T (p.Ser353Phe)	LCT, LOC126806353 (S353F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1909801	NM_002299.4(LCT):c.1224G>A (p.Val408=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909454	NM_002299.4(LCT):c.1221G>A (p.Gly407=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1717616	NM_002299.4(LCT):c.1073C>A (p.Ala358Asp)	LOC126806353, LCT (A358D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1665499	NM_002299.4(LCT):c.1053G>A (p.Thr351=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1663280	NM_002299.4(LCT):c.986+20T>G	LCT, LCT-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1662064	NM_002299.4(LCT):c.1149T>G (p.Pro383=)	LOC126806353, LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1661956	NM_002299.4(LCT):c.1082G>A (p.Arg361Lys)	LCT, LOC126806353 (R361K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1659087	NM_002299.4(LCT):c.1254C>T (p.Asn418=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1649039	NM_002299.4(LCT):c.986+12T>C	LCT, LCT-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1642947	NM_002299.4(LCT):c.1044C>T (p.His348=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1628709	NM_002299.4(LCT):c.1014G>A (p.Leu338=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1626547	NM_002299.4(LCT):c.1569G>A (p.Ala523=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1621967	NM_002299.4(LCT):c.1083_1084delinsGG (p.Ile362Val)	LCT, LOC126806353 (I362V)	Indel (missense variant)	not provided	GLikely benign
Select item 1621504	NM_002299.4(LCT):c.1122G>A (p.Arg374=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1583161	NM_002299.4(LCT):c.966T>C (p.Cys322=)	LCT, LCT-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1535904	NM_002299.4(LCT):c.1629G>A (p.Pro543=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1520479	NM_002299.4(LCT):c.1330T>A (p.Cys444Ser)	LCT, LOC126806353 (C444S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1514992	NM_002299.4(LCT):c.1309G>A (p.Ala437Thr)	LCT, LOC126806353 (A437T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478657	NM_002299.4(LCT):c.1094C>A (p.Ala365Glu)	LCT, LOC126806353 (A365E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476266	NM_002299.4(LCT):c.1478C>T (p.Ala493Val)	LCT, LOC126806353 (A493V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1444696	NM_002299.4(LCT):c.1571C>G (p.Ala524Gly)	LCT, LOC126806353 (A524G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1437860	NM_002299.4(LCT):c.1267_1268delinsAG (p.Gln423Arg)	LCT, LOC126806353 (Q423R)	Indel (missense variant)	not provided	GUncertain significance
Select item 1425022	NM_002299.4(LCT):c.1115C>T (p.Ala372Val)	LCT, LOC126806353 (A372V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1402901	NM_002299.4(LCT):c.1568C>T (p.Ala523Val)	LCT, LOC126806353 (A523V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1402404	NM_002299.4(LCT):c.948T>G (p.Ile316Met)	LCT, LCT-AS1 (I316M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1387625	NM_002299.4(LCT):c.1222G>A (p.Val408Met)	LCT, LOC126806353 (V408M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385331	NM_002299.4(LCT):c.1340G>A (p.Arg447Gln)	LCT, LOC126806353 (R447Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1373814	NM_002299.4(LCT):c.919G>A (p.Asp307Asn)	LCT, LCT-AS1 (D307N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1363741	NM_002299.4(LCT):c.1570G>A (p.Ala524Thr)	LOC126806353, LCT (A524T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357255	NM_002299.4(LCT):c.935T>C (p.Ile312Thr)	LCT, LCT-AS1 (I312T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1251276	NM_002299.4(LCT):c.986+180T>C	LCT, LCT-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1234217	NM_002299.4(LCT):c.987-256G>T	LCT, LOC126806353	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 894499	NM_002299.4(LCT):c.1617C>T (p.Thr539=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +1 more	GBenign/Likely benign
Select item 893283	NM_002299.4(LCT):c.1004C>G (p.Thr335Ser)	LCT, LOC126806353 (T335S)	Single nucleotide variant (missense variant)	Congenital lactase deficiency +1 more	GUncertain significance
Select item 893077	NM_002299.4(LCT):c.1116G>A (p.Ala372=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 893076	NM_002299.4(LCT):c.1539G>A (p.Glu513=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 729578	NM_002299.4(LCT):c.1113G>A (p.Arg371=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 723463	NM_002299.4(LCT):c.1206C>T (p.Ala402=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708529	NM_002299.4(LCT):c.1318G>A (p.Val440Ile)	LCT, LOC126806353 (V440I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 331205	NM_002299.4(LCT):c.1045G>A (p.Glu349Lys)	LCT, LOC126806353 (E349K)	Single nucleotide variant (missense variant)	Congenital lactase deficiency +2 more	GUncertain significance
Select item 331204	NM_002299.4(LCT):c.1084A>G (p.Ile362Val)	LCT, LOC126806353 (I362V)	Single nucleotide variant (missense variant)	Congenital lactase deficiency +2 more	GBenign
Select item 331203	NM_002299.4(LCT):c.1396G>T (p.Gly466Trp)	LCT, LOC126806353 (G466W)	Single nucleotide variant (missense variant)	Congenital lactase deficiency +2 more	GUncertain significance
Select item 331202	NM_002299.4(LCT):c.1419C>A (p.Gly473=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	Lactose intolerance +2 more	GBenign
Select item 331201	NM_002299.4(LCT):c.1461G>A (p.Ala487=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 331200	NM_002299.4(LCT):c.1650C>G (p.Gly550=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +2 more	GBenign/Likely benign
Select item 56393	NM_002299.4(LCT):c.653_654del (p.Ser218fs)	LCT (S218fs)	Microsatellite (frameshift variant)	Congenital lactase deficiency	GLikely pathogenic
Select item 56392	NM_002299.4(LCT):c.5387del (p.Asp1796fs)	LCT (D1796fs)	Deletion (frameshift variant)	Congenital lactase deficiency	GLikely pathogenic
Select item 56390	NM_002299.4(LCT):c.4834G>T (p.Glu1612Ter)	LCT (E1612*)	Single nucleotide variant (nonsense)	Congenital lactase deficiency	GLikely pathogenic
Select item 56389	NM_002299.4(LCT):c.4419C>G (p.Tyr1473Ter)	LCT (Y1473*)	Single nucleotide variant (nonsense)	Congenital lactase deficiency	GLikely pathogenic
Select item 56388	NM_002299.4(LCT):c.4087G>A (p.Gly1363Ser)	LCT (G1363S)	Single nucleotide variant (missense variant)	Congenital lactase deficiency	GLikely pathogenic
Select item 56387	NM_002299.4(LCT):c.1692_1696del (p.Val565fs)	LCT (V565fs)	Deletion (frameshift variant)	Congenital lactase deficiency	GLikely pathogenic
Select item 7685	NM_002299.2(LCT):c.-13907C>T	LCT, MCM6	Single nucleotide variant (intron variant)	Lactase persistence	Gassociation

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Items: 100