"GeneDx"[submitter] AND "LCT"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 331159	NM_002299.4(LCT):c.*50G>C	LCT	Single nucleotide variant (3 prime UTR variant)	Congenital lactase deficiency +2 more	GBenign
Select item 331164	NM_002299.4(LCT):c.5568T>C (p.Ala1856=)	LCT	Single nucleotide variant (synonymous variant)	Lactose intolerance +2 more	GBenign
Select item 1252509	NM_002299.4(LCT):c.5564-37G>A	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234374	NM_002299.4(LCT):c.5563+214G>A	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266259	NM_002299.4(LCT):c.5563+74T>C	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2662435	NM_002299.4(LCT):c.5516G>A (p.Gly1839Asp)	LCT (G1839D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1279576	NM_002299.4(LCT):c.5336-115C>T	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175484	NM_002299.4(LCT):c.5335+112C>G	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264901	NM_002299.4(LCT):c.5335+59T>C	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259500	NM_002299.4(LCT):c.5335+36C>T	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222663	NM_002299.4(LCT):c.5335+22C>A	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252910	NM_002299.4(LCT):c.5111+23C>T	LCT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1222140	NM_002299.4(LCT):c.4977-26T>C	LCT	Single nucleotide variant (intron variant)	Congenital lactase deficiency +1 more	GBenign
Select item 1236043	NM_002299.4(LCT):c.4977-168dup	LCT	Duplication (intron variant)	not provided	GBenign
Select item 1242645	NM_002299.4(LCT):c.4977-172C>T	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235935	NM_002299.4(LCT):c.4977-181T>G	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268016	NM_002299.4(LCT):c.4977-270CG[7]	LCT	Microsatellite (intron variant)	not provided	GBenign
Select item 1252170	NM_002299.4(LCT):c.4976+115A>G	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227196	NM_002299.4(LCT):c.4976+74A>C	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 331168	NM_002299.4(LCT):c.4916A>G (p.Asn1639Ser)	LCT (N1639S)	Single nucleotide variant (missense variant)	Lactose intolerance +2 more	GBenign
Select item 1166895	NM_002299.4(LCT):c.4866+20G>A	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 331172	NM_002299.4(LCT):c.4606C>T (p.Leu1536=)	LCT	Single nucleotide variant (synonymous variant)	Lactose intolerance +2 more	GBenign
Select item 1175392	NM_002299.4(LCT):c.4465-37C>T	LCT	Single nucleotide variant (intron variant)	Congenital lactase deficiency +1 more	GBenign
Select item 331176	NM_002299.4(LCT):c.4329C>T (p.Gly1443=)	LCT	Single nucleotide variant (synonymous variant)	Lactose intolerance +2 more	GBenign
Select item 1234207	NM_002299.4(LCT):c.4174-186A>G	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260575	NM_002299.4(LCT):c.4174-301A>G	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251424	NM_002299.4(LCT):c.3905-62G>C	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295589	NM_002299.4(LCT):c.2354-70T>C	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295618	NM_002299.4(LCT):c.2353+33G>T	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268346	NM_002299.4(LCT):c.1708-87T>A	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295109	NM_002299.4(LCT):c.1708-224A>G	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222348	NM_002299.4(LCT):c.1707+297del	LCT	Deletion (intron variant)	not provided	GBenign
Select item 331200	NM_002299.4(LCT):c.1650C>G (p.Gly550=)	LCT, LOC126806353	Single nucleotide variant (synonymous variant)	Lactose intolerance +2 more	GBenign/Likely benign
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 331204	NM_002299.4(LCT):c.1084A>G (p.Ile362Val)	LOC126806353, LCT (I362V)	Single nucleotide variant (missense variant)	Lactose intolerance +2 more	GBenign
Select item 1234217	NM_002299.4(LCT):c.987-256G>T	LCT, LOC126806353	Single nucleotide variant (intron variant)	not provided	GBenign
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 1226280	NM_002299.4(LCT):c.907+117A>C	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271553	NM_002299.4(LCT):c.805-112C>G	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295578	NM_002299.4(LCT):c.805-275T>C	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261198	NM_002299.4(LCT):c.804+205G>T	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 331206	NM_002299.4(LCT):c.729C>G (p.Val243=)	LCT	Single nucleotide variant (synonymous variant)	Lactose intolerance +2 more	GBenign/Likely benign
Select item 1281003	NM_002299.4(LCT):c.720+123G>A	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 331207	NM_002299.4(LCT):c.655G>A (p.Val219Ile)	LCT (V219I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1269250	NM_002299.4(LCT):c.640+140A>G	LCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 432764	NM_002299.4(LCT):c.584_605del (p.Leu195fs)	LCT (L195fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 331210	NM_002299.4(LCT):c.582C>T (p.Thr194=)	LCT	Single nucleotide variant (synonymous variant)	Lactose intolerance +2 more	GBenign
Select item 331213	NM_002299.4(LCT):c.318C>T (p.Asp106=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +3 more	GBenign/Likely benign
Select item 1295100	NC_000002.12:g.135837353C>T	LCT	Single nucleotide variant	not provided	GBenign

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Items: 49