ClinVar for Gene (Select 3938) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358663	NM_002299.4(LCT):c.2550G>C (p.Lys850Asn)	LCT (K850N)	Single nucleotide variant (missense variant)	LCT-related disorder	GUncertain significance
Select item 3348987	NM_002299.4(LCT):c.2897T>C (p.Leu966Pro)	LCT (L966P)	Single nucleotide variant (missense variant)	LCT-related disorder	GUncertain significance
Select item 3290333	NM_002299.4(LCT):c.98G>T (p.Gly33Val)	LCT (G33V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290332	NM_002299.4(LCT):c.2242G>C (p.Val748Leu)	LCT (V748L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290330	NM_002299.4(LCT):c.212T>A (p.Phe71Tyr)	LCT (F71Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290329	NM_002299.4(LCT):c.5158T>C (p.Phe1720Leu)	LCT (F1720L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290328	NM_002299.4(LCT):c.5228C>T (p.Pro1743Leu)	LCT (P1743L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290327	NM_002299.4(LCT):c.4054G>T (p.Ala1352Ser)	LCT (A1352S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290326	NM_002299.4(LCT):c.4279G>A (p.Asp1427Asn)	LCT (D1427N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3290324	NM_002299.4(LCT):c.4223C>T (p.Thr1408Met)	LCT (T1408M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118178	NM_002299.4(LCT):c.629A>G (p.Tyr210Cys)	LCT (Y210C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118177	NM_002299.4(LCT):c.5108A>G (p.Asp1703Gly)	LCT (D1703G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118176	NM_002299.4(LCT):c.4850C>T (p.Ala1617Val)	LCT (A1617V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118175	NM_002299.4(LCT):c.4270G>T (p.Val1424Leu)	LCT (V1424L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118174	NM_002299.4(LCT):c.3842C>T (p.Pro1281Leu)	LCT (P1281L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118173	NM_002299.4(LCT):c.3320C>T (p.Thr1107Met)	LCT (T1107M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118172	NM_002299.4(LCT):c.303C>G (p.Ser101Arg)	LCT (S101R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118171	NM_002299.4(LCT):c.1973A>G (p.His658Arg)	LCT (H658R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118170	NM_002299.4(LCT):c.1723C>A (p.Leu575Ile)	LCT (L575I)	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 3062609	GRCh37/hg19 2q21.3-22.1(chr2:136445987-137460731)x3	CXCR4, DARS1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3062608	GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	ACMSD, ACVR2A +26 more	Copy number gain	not specified	GLikely pathogenic
Select item 3061665	NM_002299.4(LCT):c.5321A>G (p.Asn1774Ser)	LCT (N1774S)	Single nucleotide variant (missense variant)	LCT-related disorder	GUncertain significance
Select item 3042980	NM_002299.4(LCT):c.2772C>T (p.Ala924=)	LCT	Single nucleotide variant (synonymous variant)	LCT-related disorder	GLikely benign
Select item 3040133	NM_002299.4(LCT):c.4809T>C (p.Ala1603=)	LCT	Single nucleotide variant (synonymous variant)	LCT-related disorder	GLikely benign
Select item 3022584	NM_002299.4(LCT):c.5211G>A (p.Lys1737=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018668	NM_002299.4(LCT):c.3931C>T (p.Arg1311Ter)	LCT (R1311*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3018463	NM_002299.4(LCT):c.2430T>C (p.Gly810=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3008058	NM_002299.4(LCT):c.1707+19G>A	LCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007766	NM_002299.4(LCT):c.4867-14C>G	LCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006570	NM_002299.4(LCT):c.1791G>A (p.Val597=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002203	NM_002299.4(LCT):c.1812C>T (p.Asp604=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001502	NM_002299.4(LCT):c.366T>C (p.Thr122=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998152	NM_002299.4(LCT):c.1683T>G (p.Ser561=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2995942	NM_002299.4(LCT):c.4867-5C>T	LCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994732	NM_002299.4(LCT):c.27dup (p.Ile10fs)	LCT (I10fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2994489	NM_002299.4(LCT):c.1674C>T (p.Pro558=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992270	NM_002299.4(LCT):c.5564-20C>T	LCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987303	NM_002299.4(LCT):c.4404G>C (p.Ala1468=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985938	NM_002299.4(LCT):c.2364A>C (p.Glu788Asp)	LCT (E788D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985872	NM_002299.4(LCT):c.3324C>T (p.Tyr1108=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985784	NM_002299.4(LCT):c.4174-20C>G	LCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985082	NM_002299.4(LCT):c.2067C>T (p.Arg689=)	LCT	Single nucleotide variant (synonymous variant)	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 2977929	NM_002299.4(LCT):c.3708G>A (p.Glu1236=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977538	NM_002299.4(LCT):c.4977-19A>G	LCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977339	NM_002299.4(LCT):c.4368C>T (p.Ile1456=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976659	NM_002299.4(LCT):c.413C>G (p.Ala138Gly)	LCT (A138G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976589	NM_002299.4(LCT):c.2544C>T (p.Leu848=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975269	NM_002299.4(LCT):c.3729G>C (p.Thr1243=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966311	NM_002299.4(LCT):c.4867-4G>A	LCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964475	NM_002299.4(LCT):c.720+16A>G	LCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961834	NM_002299.4(LCT):c.3905-18C>G	LCT	Single nucleotide variant (intron 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 2960317	NM_002299.4(LCT):c.3679G>A (p.Glu1227Lys)	LCT (E1227K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958760	NM_002299.4(LCT):c.4762G>A (p.Ala1588Thr)	LCT (A1588T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915749	NM_002299.4(LCT):c.730G>A (p.Asp244Asn)	LCT (D244N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2911683	NM_002299.4(LCT):c.57G>T (p.Gly19=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911668	NM_002299.4(LCT):c.5304C>T (p.Tyr1768=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911245	NM_002299.4(LCT):c.486C>T (p.Phe162=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909848	NM_002299.4(LCT):c.5460G>A (p.Leu1820=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906917	NM_002299.4(LCT):c.3936G>A (p.Gly1312=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906767	NM_002299.4(LCT):c.1659C>T (p.Thr553=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906278	NM_002299.4(LCT):c.3501C>T (p.Thr1167=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900715	NM_002299.4(LCT):c.2136C>T (p.His712=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900102	NM_002299.4(LCT):c.885T>C (p.Ser295=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899932	NM_002299.4(LCT):c.2065C>T (p.Arg689Cys)	LCT (R689C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2896296	NM_002299.4(LCT):c.2353+7A>T	LCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895387	NM_002299.4(LCT):c.2433C>T (p.Tyr811=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892715	NM_002299.4(LCT):c.3942C>T (p.Val1314=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892659	NM_002299.4(LCT):c.5726C>G (p.Ser1909Cys)	LCT (S1909C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892059	NM_002299.4(LCT):c.57G>A (p.Gly19=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891360	NM_002299.4(LCT):c.3831G>A (p.Gly1277=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884839	NM_002299.4(LCT):c.3543A>G (p.Leu1181=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882264	NM_002299.4(LCT):c.2025A>G (p.Lys675=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879110	NM_002299.4(LCT):c.2353+16G>A	LCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877175	NM_002299.4(LCT):c.2354-20A>G	LCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875075	NM_002299.4(LCT):c.2856C>T (p.Ala952=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875025	NM_002299.4(LCT):c.4343G>A (p.Arg1448His)	LCT (R1448H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869812	NM_002299.4(LCT):c.3609C>T (p.Val1203=)	LCT	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 2869335	NM_002299.4(LCT):c.5031T>C (p.Phe1677=)	LCT	Single nucleotide variant (synonymous variant)	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 2861830	NM_002299.4(LCT):c.2772C>A (p.Ala924=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855669	NM_002299.4(LCT):c.2540del (p.Phe847fs)	LCT (F847fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2847872	NM_002299.4(LCT):c.4123G>A (p.Gly1375Arg)	LCT (G1375R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847502	NM_002299.4(LCT):c.4976+1G>T	LCT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2845462	NM_002299.4(LCT):c.4563G>C (p.Val1521=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839651	NM_002299.4(LCT):c.720+1G>T	LCT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2832129	NM_002299.4(LCT):c.1995G>A (p.Glu665=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828727	NM_002299.4(LCT):c.3904+19C>T	LCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825506	NM_002299.4(LCT):c.4425G>T (p.Arg1475Ser)	LCT (R1475S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824527	NM_002299.4(LCT):c.2682A>G (p.Glu894=)	LCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820479	NM_002299.4(LCT):c.4465-17A>C	LCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
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

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