ClinVar for MedGen (Select 120617) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584498	NM_002299.4(LCT):c.4866+2T>G	LCT	Single nucleotide variant (splice donor variant)	Congenital lactase deficiency +1 more	GLikely pathogenic
Select item 1480641	NM_002299.4(LCT):c.3947G>C (p.Trp1316Ser)	LCT (W1316S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1410995	NM_002299.4(LCT):c.4198G>A (p.Gly1400Ser)	LCT (G1400S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1379572	NM_002299.4(LCT):c.3535C>T (p.Gln1179Ter)	LCT (Q1179*)	Single nucleotide variant (nonsense)	Congenital lactase deficiency +1 more	GPathogenic
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 1175392	NM_002299.4(LCT):c.4465-37C>T	LCT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1032814	NM_002299.4(LCT):c.5723G>A (p.Arg1908His)	LCT (R1908H)	Single nucleotide variant (missense variant)	Congenital lactase deficiency	GUncertain significance
Select item 1025930	NM_002299.4(LCT):c.5722C>T (p.Arg1908Cys)	LCT (R1908C)	Single nucleotide variant (missense variant)	Congenital lactase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 982558	NM_002299.4(LCT):c.4363C>T (p.Arg1455Cys)	LCT (R1455C)	Single nucleotide variant (missense variant)	Congenital lactase deficiency	GLikely pathogenic
Select item 982557	NM_002299.4(LCT):c.4950C>A (p.Ser1650Arg)	LCT (S1650R)	Single nucleotide variant (missense variant)	Congenital lactase deficiency	GLikely pathogenic
Select item 894537	NM_002299.4(LCT):c.21A>G (p.Val7=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 894536	NM_002299.4(LCT):c.30T>C (p.Ile10=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 894535	NM_002299.4(LCT):c.89C>T (p.Ser30Phe)	LCT (S30F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 894534	NM_002299.4(LCT):c.122A>C (p.His41Pro)	LCT (H41P)	Single nucleotide variant (missense variant)	Congenital lactase deficiency	GUncertain significance
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 894498	NM_002299.4(LCT):c.1931C>T (p.Thr644Ile)	LCT (T644I)	Single nucleotide variant (missense variant)	Congenital lactase deficiency +1 more	GUncertain significance
Select item 894497	NM_002299.4(LCT):c.2293C>A (p.Leu765Ile)	LCT (L765I)	Single nucleotide variant (missense variant)	Congenital lactase deficiency +1 more	GUncertain significance
Select item 894496	NM_002299.4(LCT):c.2310A>C (p.Leu770Phe)	LCT (L770F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 894463	NM_002299.4(LCT):c.3666C>A (p.Asn1222Lys)	LCT (N1222K)	Single nucleotide variant (missense variant)	Congenital lactase deficiency	GUncertain significance
Select item 894462	NM_002299.4(LCT):c.3804C>A (p.Pro1268=)	LCT	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 894461	NM_002299.4(LCT):c.4173+5G>A	LCT	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 894423	NM_002299.4(LCT):c.5563+7T>C	LCT	Single nucleotide variant (intron variant)	Congenital lactase deficiency	GUncertain significance
Select item 894422	NM_002299.4(LCT):c.5655C>T (p.Tyr1885=)	LCT	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 894134	NM_002299.4(LCT):c.280G>A (p.Ala94Thr)	LCT (A94T)	Single nucleotide variant (missense variant)	Congenital lactase deficiency +1 more	GUncertain significance
Select item 894105	NM_002299.4(LCT):c.2349C>T (p.Leu783=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency	GUncertain significance
Select item 894104	NM_002299.4(LCT):c.2618C>T (p.Pro873Leu)	LCT (P873L)	Single nucleotide variant (missense variant)	Congenital lactase deficiency	GUncertain significance
Select item 894103	NM_002299.4(LCT):c.2718C>T (p.Asp906=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency	GUncertain significance
Select item 894102	NM_002299.4(LCT):c.2819G>A (p.Gly940Glu)	LCT (G940E)	Single nucleotide variant (missense variant)	Congenital lactase deficiency	GUncertain significance
Select item 894063	NM_002299.4(LCT):c.4224G>A (p.Thr1408=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 894062	NM_002299.4(LCT):c.4362T>G (p.Ser1454=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 894061	NM_002299.4(LCT):c.4404G>A (p.Ala1468=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 894060	NM_002299.4(LCT):c.4447G>T (p.Ala1483Ser)	LCT (A1483S)	Single nucleotide variant (missense variant)	Congenital lactase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 894025	NM_002299.4(LCT):c.*193C>T	LCT	Single nucleotide variant (3 prime UTR variant)	Congenital lactase deficiency	GUncertain significance
Select item 894024	NM_002299.4(LCT):c.*235C>T	LCT	Single nucleotide variant (3 prime UTR variant)	Congenital lactase deficiency	GLikely benign
Select item 894023	NM_002299.4(LCT):c.*239C>T	LCT	Single nucleotide variant (3 prime UTR variant)	Congenital lactase deficiency	GUncertain significance
Select item 894022	NM_002299.4(LCT):c.*275A>G	LCT	Single nucleotide variant (3 prime UTR variant)	Congenital lactase deficiency	GUncertain significance
Select item 893286	NM_002299.4(LCT):c.677T>C (p.Ile226Thr)	LCT (I226T)	Single nucleotide variant (missense variant)	Congenital lactase deficiency +2 more	GUncertain significance
Select item 893285	NM_002299.4(LCT):c.725C>T (p.Thr242Met)	LCT (T242M)	Single nucleotide variant (missense variant)	Congenital lactase deficiency +1 more	GUncertain significance
Select item 893284	NM_002299.4(LCT):c.840C>T (p.Asn280=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +1 more	GConflicting classifications of pathogenicity
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 893251	NM_002299.4(LCT):c.2898C>A (p.Leu966=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 893250	NM_002299.4(LCT):c.2969G>T (p.Ser990Ile)	LCT (S990I)	Single nucleotide variant (missense variant)	Congenital lactase deficiency	GUncertain significance
Select item 893249	NM_002299.4(LCT):c.2983C>T (p.His995Tyr)	LCT (H995Y)	Single nucleotide variant (missense variant)	Congenital lactase deficiency	GUncertain significance
Select item 893215	NM_002299.4(LCT):c.4664-10A>G	LCT	Single nucleotide variant (intron variant)	Congenital lactase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 893214	NM_002299.4(LCT):c.4714A>T (p.Ile1572Leu)	LCT (I1572L)	Single nucleotide variant (missense variant)	Congenital lactase deficiency +1 more	GUncertain significance
Select item 893213	NM_002299.4(LCT):c.4761C>T (p.Arg1587=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +1 more	GConflicting classifications of pathogenicity
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 893035	NM_002299.4(LCT):c.3450C>T (p.Ser1150=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency	GUncertain significance
Select item 893034	NM_002299.4(LCT):c.3483C>T (p.Asn1161=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 893033	NM_002299.4(LCT):c.3655C>G (p.Pro1219Ala)	LCT (P1219A)	Single nucleotide variant (missense variant)	Congenital lactase deficiency	GUncertain significance
Select item 892987	NM_002299.4(LCT):c.4776C>T (p.Gly1592=)	LCT	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892986	NM_002299.4(LCT):c.4866+12C>T	LCT	Single nucleotide variant (intron variant)	Congenital lactase deficiency +1 more	GBenign/Likely benign
Select item 892985	NM_002299.4(LCT):c.5335+5G>A	LCT	Single nucleotide variant (intron variant)	Congenital lactase deficiency	GUncertain significance
Select item 892984	NM_002299.4(LCT):c.5391T>C (p.Asn1797=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +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 720552	NM_002299.4(LCT):c.3597G>A (p.Ala1199=)	LCT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 708530	NM_002299.4(LCT):c.301A>G (p.Ser101Gly)	LCT (S101G)	Single nucleotide variant (missense variant)	not provided +1 more	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 631827	NM_002299.4(LCT):c.4760G>A (p.Arg1587His)	LCT (R1587H)	Single nucleotide variant (missense variant)	Congenital lactase deficiency +1 more	GUncertain significance
Select item 331214	NM_002299.4(LCT):c.54G>C (p.Trp18Cys)	LCT (W18C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 331213	NM_002299.4(LCT):c.318C>T (p.Asp106=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +2 more	GBenign/Likely benign
Select item 331212	NM_002299.4(LCT):c.319G>A (p.Glu107Lys)	LCT (E107K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 331211	NM_002299.4(LCT):c.454G>A (p.Ala152Thr)	LCT (A152T)	Single nucleotide variant (missense variant)	Lactose intolerance +2 more	GBenign/Likely benign
Select item 331210	NM_002299.4(LCT):c.582C>T (p.Thr194=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +2 more	GBenign
Select item 331209	NM_002299.4(LCT):c.621C>T (p.His207=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +1 more	GUncertain significance
Select item 331208	NM_002299.4(LCT):c.643G>A (p.Gly215Arg)	LCT (G215R)	Single nucleotide variant (missense variant)	Congenital lactase deficiency +3 more	GUncertain significance
Select item 331207	NM_002299.4(LCT):c.655G>A (p.Val219Ile)	LCT (V219I)	Single nucleotide variant (missense variant)	Congenital lactase deficiency +2 more	GBenign
Select item 331206	NM_002299.4(LCT):c.729C>G (p.Val243=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +2 more	GBenign/Likely benign
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 331199	NM_002299.4(LCT):c.1780C>G (p.Gln594Glu)	LCT (Q594E)	Single nucleotide variant (missense variant)	Congenital lactase deficiency +1 more	GUncertain significance
Select item 331198	NM_002299.4(LCT):c.1902C>T (p.Pro634=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 331197	NM_002299.4(LCT):c.2177G>A (p.Arg726His)	LCT (R726H)	Single nucleotide variant (missense variant)	Congenital lactase deficiency +1 more	GUncertain significance
Select item 331196	NM_002299.4(LCT):c.2457C>T (p.His819=)	LCT	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 331195	NM_002299.4(LCT):c.2714A>G (p.Asp905Gly)	LCT (D905G)	Single nucleotide variant (missense variant)	Lactose intolerance +2 more	GBenign/Likely benign
Select item 331194	NM_002299.4(LCT):c.2760C>T (p.Gly920=)	LCT	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 331193	NM_002299.4(LCT):c.2763G>A (p.Ala921=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 331192	NM_002299.4(LCT):c.2883C>T (p.Ala961=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 331191	NM_002299.4(LCT):c.3006G>A (p.Arg1002=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 331190	NM_002299.4(LCT):c.3285C>T (p.His1095=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 331189	NM_002299.4(LCT):c.3286G>A (p.Ala1096Thr)	LCT (A1096T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 331188	NM_002299.4(LCT):c.3341A>G (p.Gln1114Arg)	LCT (Q1114R)	Single nucleotide variant (missense variant)	Congenital lactase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 331187	NM_002299.4(LCT):c.3390G>A (p.Glu1130=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +1 more	GUncertain significance
Select item 331186	NM_002299.4(LCT):c.3532C>T (p.Leu1178=)	LCT	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 331185	NM_002299.4(LCT):c.3595G>A (p.Ala1199Thr)	LCT (A1199T)	Single nucleotide variant (missense variant)	Congenital lactase deficiency +1 more	GUncertain significance
Select item 331184	NM_002299.4(LCT):c.3599C>T (p.Thr1200Met)	LCT (T1200M)	Single nucleotide variant (missense variant)	Congenital lactase deficiency +1 more	GUncertain significance
Select item 331183	NM_002299.4(LCT):c.3759G>A (p.Thr1253=)	LCT	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 331182	NM_002299.4(LCT):c.3848C>T (p.Thr1283Met)	LCT (T1283M)	Single nucleotide variant (missense variant)	Congenital lactase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 331181	NM_002299.4(LCT):c.3986C>T (p.Thr1329Met)	LCT (T1329M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 331180	NM_002299.4(LCT):c.4026G>A (p.Thr1342=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 331179	NM_002299.4(LCT):c.4122C>T (p.Tyr1374=)	LCT	Single nucleotide variant (synonymous variant)	Lactose intolerance +2 more	GConflicting classifications of pathogenicity
Select item 331178	NM_002299.4(LCT):c.4173+6_4173+8del	LCT	Microsatellite (intron variant)	Congenital lactase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 331177	NM_002299.4(LCT):c.4239A>G (p.Pro1413=)	LCT	Single nucleotide variant (synonymous variant)	Congenital lactase deficiency +1 more	GUncertain significance
Select item 331176	NM_002299.4(LCT):c.4329C>T (p.Gly1443=)	LCT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign

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