ClinVar for MedGen (Select 767571) - ClinVar

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Items: 38

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25824811.	NM_002291.3(LAMB1):c.1637G>A (p.Gly546Asp) GRCh37: Chr7:107605058 GRCh38: Chr7:107964613	LAMB1	G546D	Cobblestone lissencephaly without muscular or ocular involvement	Uncertain significance (Apr 5, 2023)	criteria provided, single submitter
Select item 25823252.	NM_002291.3(LAMB1):c.1925G>A (p.Arg642Gln) GRCh37: Chr7:107602054 GRCh38: Chr7:107961609	LAMB1	R642Q	Cobblestone lissencephaly without muscular or ocular involvement	Uncertain significance (Apr 5, 2023)	criteria provided, single submitter
Select item 25065193.	NM_002291.3(LAMB1):c.1526del (p.Pro509fs) GRCh37: Chr7:107613473 GRCh38: Chr7:107973028	LAMB1	P509fs	Cobblestone lissencephaly without muscular or ocular involvement	Pathogenic (Jun 26, 2023)	criteria provided, single submitter
Select item 24982074.	GRCh38/hg38 7q31.1(chr7:107951205-107952243)x0 GRCh38: Chr7:107951205-107952243	LAMB1		Cobblestone lissencephaly without muscular or ocular involvement	Likely pathogenic (Apr 13, 2023)	criteria provided, single submitter
Select item 24333895.	NM_002291.3(LAMB1):c.785T>G (p.Val262Gly) GRCh37: Chr7:107621148 GRCh38: Chr7:107980703	LAMB1	V262G	Cobblestone lissencephaly without muscular or ocular involvement	Uncertain significance (Jun 18, 2020)	criteria provided, single submitter
Select item 24333886.	NM_002291.3(LAMB1):c.4290T>G (p.Cys1430Trp) GRCh37: Chr7:107572721 GRCh38: Chr7:107932276	LAMB1	C1430W	Cobblestone lissencephaly without muscular or ocular involvement	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 24333857.	NM_002291.3(LAMB1):c.234A>G (p.Ile78Met) GRCh37: Chr7:107638917 GRCh38: Chr7:107998472	LAMB1	I78M	Cobblestone lissencephaly without muscular or ocular involvement	Uncertain significance (Feb 17, 2021)	criteria provided, single submitter
Select item 24333848.	NM_002291.3(LAMB1):c.109C>T (p.Pro37Ser) GRCh37: Chr7:107642107 GRCh38: Chr7:108001662	LAMB1	P37S	Cobblestone lissencephaly without muscular or ocular involvement	Uncertain significance (Apr 15, 2021)	criteria provided, single submitter
Select item 24333839.	NM_002291.3(LAMB1):c.1070T>C (p.Val357Ala) GRCh37: Chr7:107616253 GRCh38: Chr7:107975808	LAMB1	V357A	Cobblestone lissencephaly without muscular or ocular involvement	Uncertain significance (Dec 13, 2019)	criteria provided, single submitter
Select item 243338210.	NM_002291.3(LAMB1):c.4519A>T (p.Ile1507Phe) GRCh37: Chr7:107571819 GRCh38: Chr7:107931374	LAMB1	I1507F	Cobblestone lissencephaly without muscular or ocular involvement	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 243338111.	NM_002291.3(LAMB1):c.2960C>T (p.Pro987Leu) GRCh37: Chr7:107594094 GRCh38: Chr7:107953649	LAMB1	P987L	Cobblestone lissencephaly without muscular or ocular involvement	Uncertain significance (Mar 13, 2019)	criteria provided, single submitter
Select item 241370312.	NM_002291.3(LAMB1):c.4188+1G>C GRCh37: Chr7:107575859 GRCh38: Chr7:107935414	LAMB1		not provided, Cobblestone lissencephaly without muscular or ocular involvement	Pathogenic/Likely pathogenic (May 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 217572513.	NM_002291.3(LAMB1):c.3814T>A (p.Ser1272Thr) GRCh37: Chr7:107577670 GRCh38: Chr7:107937225	LAMB1	S1272T	Cobblestone lissencephaly without muscular or ocular involvement, not provided	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170178614.	NM_002291.3(LAMB1):c.1974_1975dup (p.Pro659fs) GRCh37: Chr7:107602003-107602004 GRCh38: Chr7:107961558-107961559	LAMB1	P659fs	Cobblestone lissencephaly without muscular or ocular involvement	Likely pathogenic (Aug 19, 2022)	criteria provided, single submitter
Select item 170178515.	NM_002291.3(LAMB1):c.4363_4376del (p.Leu1455fs) GRCh37: Chr7:107572635-107572648 GRCh38: Chr7:107932190-107932203	LAMB1	L1455fs	Cobblestone lissencephaly without muscular or ocular involvement	Likely pathogenic (Aug 19, 2022)	criteria provided, single submitter
Select item 168358916.	NM_002291.3(LAMB1):c.1694G>A (p.Gly565Glu) GRCh37: Chr7:107605001 GRCh38: Chr7:107964556	LAMB1	G565E	not provided, Cobblestone lissencephaly without muscular or ocular involvement	Uncertain significance (Jun 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143365817.	NM_002291.3(LAMB1):c.4237G>A (p.Gly1413Arg) GRCh37: Chr7:107572774 GRCh38: Chr7:107932329	LAMB1	G1413R	not provided, Cobblestone lissencephaly without muscular or ocular involvement	Uncertain significance (Dec 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 142734018.	NM_002291.3(LAMB1):c.1189C>T (p.Arg397Ter) GRCh37: Chr7:107616134 GRCh38: Chr7:107975689	LAMB1	R397*	Cobblestone lissencephaly without muscular or ocular involvement, not provided	Pathogenic (Mar 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132317919.	NM_002291.3(LAMB1):c.1752_1756dup (p.Ala586fs) GRCh37: Chr7:107603450-107603451 GRCh38: Chr7:107963005-107963006	LAMB1	A586fs	Cobblestone lissencephaly without muscular or ocular involvement	Pathogenic (Jun 18, 2020)	criteria provided, single submitter
Select item 125413820.	NM_002291.3(LAMB1):c.2270A>C (p.Asn757Thr) GRCh37: Chr7:107600934 GRCh38: Chr7:107960489	LAMB1	N757T	Cobblestone lissencephaly without muscular or ocular involvement, not provided	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119424621.	NM_002291.3(LAMB1):c.1069G>A (p.Val357Ile) GRCh37: Chr7:107616254 GRCh38: Chr7:107975809	LAMB1	V357I	Cobblestone lissencephaly without muscular or ocular involvement, Inborn genetic diseases, not provided	Uncertain significance (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102943422.	NM_002291.3(LAMB1):c.4188G>C (p.Met1396Ile) GRCh37: Chr7:107575860 GRCh38: Chr7:107935415	LAMB1	M1396I	Cobblestone lissencephaly without muscular or ocular involvement	Uncertain significance (Aug 8, 2019)	criteria provided, single submitter
Select item 102943323.	NM_002291.3(LAMB1):c.2402G>A (p.Arg801Lys) GRCh37: Chr7:107600192 GRCh38: Chr7:107959747	LAMB1	R801K	Cobblestone lissencephaly without muscular or ocular involvement	Uncertain significance (Feb 13, 2020)	criteria provided, single submitter
Select item 102943224.	NM_002291.3(LAMB1):c.2092T>A (p.Tyr698Asn) GRCh37: Chr7:107601668 GRCh38: Chr7:107961223	LAMB1	Y698N	Cobblestone lissencephaly without muscular or ocular involvement	Uncertain significance (Sep 6, 2019)	criteria provided, single submitter
Select item 98189925.	NM_002291.3(LAMB1):c.2315-28A>G GRCh37: Chr7:107600307 GRCh38: Chr7:107959862	LAMB1		Cobblestone lissencephaly without muscular or ocular involvement, Intellectual disability	Conflicting interpretations of pathogenicity (May 2, 2023)	criteria provided, conflicting interpretations
Select item 97787426.	NM_002291.3(LAMB1):c.3422C>T (p.Thr1141Met) GRCh37: Chr7:107580773 GRCh38: Chr7:107940328	LAMB1	T1141M	Inborn genetic diseases, not provided	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97333827.	NM_002291.3(LAMB1):c.4277G>C (p.Gly1426Ala) GRCh37: Chr7:107572734 GRCh38: Chr7:107932289	LAMB1	G1426A	Inborn genetic diseases, Cobblestone lissencephaly without muscular or ocular involvement	Uncertain significance (Apr 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93130128.	NM_002291.3(LAMB1):c.452A>G (p.Glu151Gly) GRCh37: Chr7:107626780 GRCh38: Chr7:107986335	LAMB1	E151G	Cobblestone lissencephaly without muscular or ocular involvement	Uncertain significance (Oct 29, 2018)	criteria provided, single submitter
Select item 93097029.	NM_002291.3(LAMB1):c.4648C>T (p.Arg1550Ter) GRCh37: Chr7:107569954 GRCh38: Chr7:107929509	LAMB1	R1550*	not provided, Cobblestone lissencephaly without muscular or ocular involvement	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 70940030.	NM_002291.3(LAMB1):c.2723T>C (p.Ile908Thr) GRCh37: Chr7:107596043 GRCh38: Chr7:107955598	LAMB1	I908T	Cobblestone lissencephaly without muscular or ocular involvement, not provided	Conflicting interpretations of pathogenicity (Jul 25, 2023)	criteria provided, conflicting interpretations
Select item 56115431.	NM_002291.3(LAMB1):c.5347A>G (p.Ser1783Gly) GRCh37: Chr7:107564410 GRCh38: Chr7:107923965	LAMB1	S1783G	Cobblestone lissencephaly without muscular or ocular involvement, not provided	Uncertain significance (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56115332.	NM_002291.3(LAMB1):c.4183G>A (p.Glu1395Lys) GRCh37: Chr7:107575865 GRCh38: Chr7:107935420	LAMB1	E1395K	Cobblestone lissencephaly without muscular or ocular involvement, not provided	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52277633.	NM_002291.3(LAMB1):c.4562T>G (p.Ile1521Ser) GRCh37: Chr7:107570040 GRCh38: Chr7:107929595	LAMB1	I1521S	Cobblestone lissencephaly without muscular or ocular involvement	Uncertain significance (Dec 3, 2017)	criteria provided, single submitter
Select item 36957534.	NM_002291.3(LAMB1):c.5225-7C>T GRCh37: Chr7:107564539 GRCh38: Chr7:107924094	DLD, LAMB1		Cobblestone lissencephaly without muscular or ocular involvement, Maple syrup urine disease, Leigh syndrome, not specified, Pyruvate dehydrogenase complex deficiency, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22568835.	NM_002291.3(LAMB1):c.1442G>T (p.Cys481Phe) GRCh37: Chr7:107615471 GRCh38: Chr7:107975026	LAMB1	C481F	Cobblestone lissencephaly without muscular or ocular involvement	Pathogenic (Oct 14, 2021)	no assertion criteria provided
Select item 22568736.	NM_002291.3(LAMB1):c.2931del (p.Gln977fs) GRCh37: Chr7:107594123 GRCh38: Chr7:107953678	LAMB1	Q977fs	Cobblestone lissencephaly without muscular or ocular involvement	Pathogenic (Oct 14, 2021)	no assertion criteria provided
Select item 4201537.	NM_002291.3(LAMB1):c.2109+1G>T GRCh37: Chr7:107601650 GRCh38: Chr7:107961205	LAMB1		Cobblestone lissencephaly without muscular or ocular involvement	Pathogenic (Mar 7, 2013)	no assertion criteria provided
Select item 4201438.	NM_002291.3(LAMB1):c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT (p.Lys1049_Gln1053delinsProValLeuValSerSerTer) GRCh37: Chr7:107592590-107592603 GRCh38: Chr7:107952145-107952158	LAMB1		Cobblestone lissencephaly without muscular or ocular involvement	Pathogenic (Mar 7, 2013)	no assertion criteria provided

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Items: 38