ClinVar for MedGen (Select 767571) - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3594246	NM_002291.3(LAMB1):c.560A>G (p.Asp187Gly)	LAMB1 (D187G)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement	GUncertain significance
Select item 3242128	NM_002291.3(LAMB1):c.979C>T (p.Arg327Ter)	LAMB1 (R327*)	Single nucleotide variant (nonsense)	Cobblestone lissencephaly without muscular or ocular involvement	GLikely pathogenic
Select item 3075956	NM_002291.3(LAMB1):c.1000+1G>T	LAMB1	Single nucleotide variant (splice donor variant)	Cobblestone lissencephaly without muscular or ocular involvement	GLikely pathogenic
Select item 3065143	NM_002291.3(LAMB1):c.455G>C (p.Arg152Pro)	LAMB1 (R152P)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement	GUncertain significance
Select item 3064101	NM_002291.3(LAMB1):c.1985+5G>T	LAMB1	Single nucleotide variant (intron variant)	Cobblestone lissencephaly without muscular or ocular involvement	GUncertain significance
Select item 2689357	NM_002291.3(LAMB1):c.4540G>A (p.Asp1514Asn)	LAMB1 (D1514N)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement	GUncertain significance
Select item 2582481	NM_002291.3(LAMB1):c.1637G>A (p.Gly546Asp)	LAMB1 (G546D)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement +1 more	GUncertain significance
Select item 2582325	NM_002291.3(LAMB1):c.1925G>A (p.Arg642Gln)	LAMB1 (R642Q)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement	GUncertain significance
Select item 2506519	NM_002291.3(LAMB1):c.1526del (p.Pro509fs)	LAMB1 (P509fs)	Deletion (frameshift variant)	Cobblestone lissencephaly without muscular or ocular involvement	GPathogenic
Select item 2498207	GRCh38/hg38 7q31.1(chr7:107951205-107952243)x0	LAMB1	Copy number loss	Cobblestone lissencephaly without muscular or ocular involvement	GLikely pathogenic
Select item 2433389	NM_002291.3(LAMB1):c.785T>G (p.Val262Gly)	LAMB1 (V262G)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement	GUncertain significance
Select item 2433388	NM_002291.3(LAMB1):c.4290T>G (p.Cys1430Trp)	LAMB1 (C1430W)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement	GUncertain significance
Select item 2433385	NM_002291.3(LAMB1):c.234A>G (p.Ile78Met)	LAMB1 (I78M)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement	GUncertain significance
Select item 2433384	NM_002291.3(LAMB1):c.109C>T (p.Pro37Ser)	LAMB1 (P37S)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement	GUncertain significance
Select item 2433383	NM_002291.3(LAMB1):c.1070T>C (p.Val357Ala)	LAMB1 (V357A)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement	GUncertain significance
Select item 2433382	NM_002291.3(LAMB1):c.4519A>T (p.Ile1507Phe)	LAMB1 (I1507F)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement	GUncertain significance
Select item 2433381	NM_002291.3(LAMB1):c.2960C>T (p.Pro987Leu)	LAMB1 (P987L)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement	GUncertain significance
Select item 2413703	NM_002291.3(LAMB1):c.4188+1G>C	LAMB1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2203172	NM_002291.3(LAMB1):c.4999G>A (p.Gly1667Arg)	LAMB1 (G1667R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2175725	NM_002291.3(LAMB1):c.3814T>A (p.Ser1272Thr)	LAMB1 (S1272T)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement +2 more	GUncertain significance
Select item 1701786	NM_002291.3(LAMB1):c.1974_1975dup (p.Pro659fs)	LAMB1 (P659fs)	Duplication (frameshift variant)	Cobblestone lissencephaly without muscular or ocular involvement	GLikely pathogenic
Select item 1701785	NM_002291.3(LAMB1):c.4363_4376del (p.Leu1455fs)	LAMB1 (L1455fs)	Deletion (frameshift variant)	Cobblestone lissencephaly without muscular or ocular involvement	GLikely pathogenic
Select item 1683589	NM_002291.3(LAMB1):c.1694G>A (p.Gly565Glu)	LAMB1 (G565E)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement +1 more	GUncertain significance
Select item 1433658	NM_002291.3(LAMB1):c.4237G>A (p.Gly1413Arg)	LAMB1 (G1413R)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement +2 more	GUncertain significance
Select item 1427340	NM_002291.3(LAMB1):c.1189C>T (p.Arg397Ter)	LAMB1 (R397*)	Single nucleotide variant (nonsense)	Cobblestone lissencephaly without muscular or ocular involvement +1 more	GPathogenic
Select item 1353429	NM_002291.3(LAMB1):c.4088G>A (p.Arg1363Gln)	LAMB1 (R1363Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1323179	NM_002291.3(LAMB1):c.1752_1756dup (p.Ala586fs)	LAMB1 (A586fs)	Duplication (frameshift variant)	Cobblestone lissencephaly without muscular or ocular involvement	GPathogenic
Select item 1254138	NM_002291.3(LAMB1):c.2270A>C (p.Asn757Thr)	LAMB1 (N757T)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement +1 more	GUncertain significance
Select item 1194246	NM_002291.3(LAMB1):c.1069G>A (p.Val357Ile)	LAMB1 (V357I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1029434	NM_002291.3(LAMB1):c.4188G>C (p.Met1396Ile)	LAMB1 (M1396I)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement	GUncertain significance
Select item 1029433	NM_002291.3(LAMB1):c.2402G>A (p.Arg801Lys)	LAMB1 (R801K)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement	GUncertain significance
Select item 1029432	NM_002291.3(LAMB1):c.2092T>A (p.Tyr698Asn)	LAMB1 (Y698N)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement	GUncertain significance
Select item 981899	NM_002291.3(LAMB1):c.2315-28A>G	LAMB1	Single nucleotide variant (intron variant)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 977874	NM_002291.3(LAMB1):c.3422C>T (p.Thr1141Met)	LAMB1 (T1141M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 973338	NM_002291.3(LAMB1):c.4277G>C (p.Gly1426Ala)	LAMB1 (G1426A)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement +1 more	GUncertain significance
Select item 931301	NM_002291.3(LAMB1):c.452A>G (p.Glu151Gly)	LAMB1 (E151G)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement	GUncertain significance
Select item 930970	NM_002291.3(LAMB1):c.4648C>T (p.Arg1550Ter)	LAMB1 (R1550*)	Single nucleotide variant (nonsense)	Cobblestone lissencephaly without muscular or ocular involvement +1 more	GConflicting classifications of pathogenicity
Select item 709400	NM_002291.3(LAMB1):c.2723T>C (p.Ile908Thr)	LAMB1 (I908T)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement +1 more	GConflicting classifications of pathogenicity
Select item 561154	NM_002291.3(LAMB1):c.5347A>G (p.Ser1783Gly)	LAMB1 (S1783G)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement +1 more	GUncertain significance
Select item 561153	NM_002291.3(LAMB1):c.4183G>A (p.Glu1395Lys)	LAMB1 (E1395K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 522776	NM_002291.3(LAMB1):c.4562T>G (p.Ile1521Ser)	LAMB1 (I1521S)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement	GUncertain significance
Select item 435724	NM_002291.3(LAMB1):c.1153C>G (p.Pro385Ala)	LAMB1 (P385A)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement +1 more	GUncertain significance
Select item 369575	NM_002291.3(LAMB1):c.5225-7C>T	DLD, LAMB1	Single nucleotide variant (intron variant)	Maple syrup urine disease +5 more	GBenign
Select item 225688	NM_002291.3(LAMB1):c.1442G>T (p.Cys481Phe)	LAMB1 (C481F)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement	GPathogenic
Select item 225687	NM_002291.3(LAMB1):c.2931del (p.Gln977fs)	LAMB1 (Q977fs)	Deletion (frameshift variant)	Cobblestone lissencephaly without muscular or ocular involvement	GPathogenic
Select item 42015	NM_002291.3(LAMB1):c.2109+1G>T	LAMB1	Single nucleotide variant (splice donor variant)	Cobblestone lissencephaly without muscular or ocular involvement	GPathogenic
Select item 42014	NM_002291.3(LAMB1):c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT (p.Lys1049_Gln1053delinsProValLeuValSerSerTer)	LAMB1	Indel (nonsense)	Cobblestone lissencephaly without muscular or ocular involvement	GPathogenic

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Items: 47