ClinVar for MedGen (Select 373199) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 890

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246917	NC_000003.11:g.(?_49161700)_(49165984_?)dup	LAMB2	Duplication	Pierson syndrome +1 more	GPathogenic
Select item 3065188	NM_002292.4(LAMB2):c.516G>T (p.Trp172Cys)	LAMB2 (W172C)	Single nucleotide variant (missense variant)	Pierson syndrome	GUncertain significance
Select item 2953014	NM_002292.4(LAMB2):c.165G>A (p.Leu55=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2952880	NM_002292.4(LAMB2):c.399C>T (p.Val133=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2952822	NM_002292.4(LAMB2):c.4782-12C>T	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2952430	NM_002292.4(LAMB2):c.52C>T (p.Leu18Phe)	LAMB2 (L18F)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 2951974	NM_002292.4(LAMB2):c.2152-17C>T	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2951667	NM_002292.4(LAMB2):c.5100+7T>A	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2951400	NM_002292.4(LAMB2):c.77-4C>G	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2950413	NM_002292.4(LAMB2):c.1036+18C>T	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2949966	NM_002292.4(LAMB2):c.633A>G (p.Pro211=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2947277	NM_002292.4(LAMB2):c.5310A>T (p.Ala1770=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2946789	NM_002292.4(LAMB2):c.2212C>T (p.Leu738=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2946364	NM_002292.4(LAMB2):c.2541T>C (p.Ser847=)	LAMB2, LOC129936738	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2945790	NM_002292.4(LAMB2):c.3094C>T (p.Arg1032Ter)	LAMB2 (R1032*)	Single nucleotide variant (nonsense)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GPathogenic
Select item 2944996	NM_002292.4(LAMB2):c.3025C>T (p.Arg1009Cys)	LAMB2 (R1009C)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 2944660	NM_002292.4(LAMB2):c.3327+16G>A	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2944051	NM_002292.4(LAMB2):c.3218del (p.Gly1073fs)	LAMB2 (G1073fs)	Deletion (frameshift variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GPathogenic
Select item 2943735	NM_002292.4(LAMB2):c.2161C>T (p.Leu721=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2943422	NM_002292.4(LAMB2):c.1969T>C (p.Leu657=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2942685	NM_002292.4(LAMB2):c.3110-17C>T	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2942277	NM_002292.4(LAMB2):c.3261C>T (p.Thr1087=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2941787	NM_002292.4(LAMB2):c.3517dup (p.Cys1173fs)	LAMB2 (C1173fs)	Duplication (frameshift variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GPathogenic
Select item 2940625	NM_002292.4(LAMB2):c.3765T>C (p.Thr1255=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2940008	NM_002292.4(LAMB2):c.1257C>T (p.Asp419=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2940003	NM_002292.4(LAMB2):c.2390C>G (p.Pro797Arg)	LAMB2 (P797R)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 2939664	NM_002292.4(LAMB2):c.3712C>T (p.Leu1238=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2939271	NM_002292.4(LAMB2):c.2152-18C>T	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2937611	NM_002292.4(LAMB2):c.386-11_393del	LAMB2	Deletion (splice acceptor variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely pathogenic
Select item 2937498	NM_002292.4(LAMB2):c.651C>G (p.Val217=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2937429	NM_002292.4(LAMB2):c.649-14C>A	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2937403	NM_002292.4(LAMB2):c.4781+16T>C	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2937321	NM_002292.4(LAMB2):c.4671T>C (p.Gly1557=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2937083	NM_002292.4(LAMB2):c.3328-16C>T	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2936822	NM_002292.4(LAMB2):c.4770A>G (p.Ala1590=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2936587	NM_002292.4(LAMB2):c.4573+19C>T	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2936326	NM_002292.4(LAMB2):c.2489-20C>T	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2936067	NM_002292.4(LAMB2):c.4683G>A (p.Glu1561=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2935997	NM_002292.4(LAMB2):c.4095G>C (p.Arg1365=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2933829	NM_002292.4(LAMB2):c.4422C>T (p.Leu1474=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2933357	NM_002292.4(LAMB2):c.3109+15G>A	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2933167	NM_002292.4(LAMB2):c.3798-19C>G	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2933127	NM_002292.4(LAMB2):c.249+8T>A	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2932743	NM_002292.4(LAMB2):c.1563C>T (p.Pro521=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2932684	NM_002292.4(LAMB2):c.3152C>T (p.Pro1051Leu)	LAMB2 (P1051L)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GBenign
Select item 2932418	NM_002292.4(LAMB2):c.204T>C (p.Cys68=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2932180	NM_002292.4(LAMB2):c.2901T>G (p.Ala967=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2932177	NM_002292.4(LAMB2):c.460-18_460-17dup	LAMB2	Duplication (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2932065	NM_002292.4(LAMB2):c.1899G>A (p.Glu633=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2931174	NM_002292.4(LAMB2):c.3982+8G>A	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2931076	NM_002292.4(LAMB2):c.2018+12G>C	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2930653	NM_002292.4(LAMB2):c.1455C>T (p.Asp485=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2930440	NM_002292.4(LAMB2):c.1799T>C (p.Val600Ala)	LAMB2 (V600A)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 2930164	NM_002292.4(LAMB2):c.2070G>A (p.Lys690=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2929852	NM_002292.4(LAMB2):c.2877C>G (p.Gly959=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2929463	NM_002292.4(LAMB2):c.4782-13C>T	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2928831	NM_002292.4(LAMB2):c.1459A>G (p.Asn487Asp)	LAMB2 (N487D)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 2928369	NM_002292.4(LAMB2):c.2640T>C (p.Asn880=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2928346	NM_002292.4(LAMB2):c.3270T>C (p.His1090=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2928194	NM_002292.4(LAMB2):c.2152-10del	LAMB2	Deletion (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2927348	NM_002292.4(LAMB2):c.4908G>A (p.Glu1636=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2927123	NM_002292.4(LAMB2):c.5061G>C (p.Thr1687=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2926891	NM_002292.4(LAMB2):c.460-8C>T	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2926809	NM_002292.4(LAMB2):c.5100+6T>C	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 2926806	NM_002292.4(LAMB2):c.4444C>A (p.Arg1482=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2926060	NM_002292.4(LAMB2):c.4924-15G>C	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2925998	NM_002292.4(LAMB2):c.5109C>A (p.Arg1703=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2925710	NM_002292.4(LAMB2):c.4573+13C>T	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2925137	NM_002292.4(LAMB2):c.1201C>T (p.Leu401=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2925047	NM_002292.4(LAMB2):c.241C>T (p.His81Tyr)	LAMB2 (H81Y)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 2924793	NM_002292.4(LAMB2):c.4755G>A (p.Gln1585=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2924730	NM_002292.4(LAMB2):c.4455C>T (p.Ser1485=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2924493	NM_002292.4(LAMB2):c.460-16A>G	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2924414	NM_002292.4(LAMB2):c.2721-11C>T	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2924379	NM_002292.4(LAMB2):c.3798-18C>T	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2923812	NC_000003.12:g.49122085_49122087del	LAMB2	Deletion	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 2923596	NM_002292.4(LAMB2):c.147C>T (p.Pro49=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2923440	NM_002292.4(LAMB2):c.3425-11C>T	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2923141	NM_002292.4(LAMB2):c.1732-14G>C	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2923073	NM_002292.4(LAMB2):c.915+14G>C	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2922939	NM_002292.4(LAMB2):c.1519-14C>T	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2922845	NM_002292.4(LAMB2):c.27G>A (p.Gly9=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2922828	NM_002292.4(LAMB2):c.3813G>A (p.Glu1271=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2922810	NM_002292.4(LAMB2):c.2488+12C>A	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 2921688	NM_002292.4(LAMB2):c.915+8G>T	LAMB2	Single nucleotide variant (intron variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 2681761	NM_002292.4(LAMB2):c.1066T>A (p.Cys356Ser)	LAMB2 (C356S)	Single nucleotide variant (missense variant)	Pierson syndrome	GUncertain significance
Select item 2681760	NM_002292.4(LAMB2):c.1405C>T (p.Arg469Ter)	LAMB2 (R469*)	Single nucleotide variant (nonsense)	Pierson syndrome	GPathogenic
Select item 2664224	NM_002292.4(LAMB2):c.3403G>C (p.Asp1135His)	LAMB2 (D1135H)	Single nucleotide variant (missense variant)	Pierson syndrome	GUncertain significance
Select item 2664216	NM_002292.4(LAMB2):c.2700_2701del (p.Gly901_Gly902insTer)	LAMB2	Deletion (frameshift variant)	Pierson syndrome	GLikely pathogenic
Select item 2627166	NM_002292.4(LAMB2):c.1405+1G>A	LAMB2	Single nucleotide variant (splice donor variant)	Pierson syndrome +1 more	GPathogenic
Select item 2585397	NM_002292.4(LAMB2):c.4882dup (p.Ala1628fs)	LAMB2 (A1628fs)	Duplication (frameshift variant)	Pierson syndrome	GLikely pathogenic
Select item 2500786	NM_002292.4(LAMB2):c.2494C>T (p.Gln832Ter)	LAMB2, LOC129936738 (Q832*)	Single nucleotide variant (nonsense)	Pierson syndrome	GPathogenic
Select item 2421479	NM_002292.4(LAMB2):c.1371T>C (p.Phe457=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GLikely benign
Select item 2420816	NM_002292.4(LAMB2):c.3810G>A (p.Gly1270=)	LAMB2	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GLikely benign
Select item 2419832	NM_002292.4(LAMB2):c.2102G>T (p.Ser701Ile)	LAMB2 (S701I)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 2419591	NM_002292.4(LAMB2):c.4573+8T>C	LAMB2	Single nucleotide variant (intron variant)	Pierson syndrome +1 more	GLikely benign
Select item 2265429	NM_002292.4(LAMB2):c.116T>A (p.Val39Glu)	LAMB2 (V39E)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GUncertain significance
Select item 2241629	NM_002292.4(LAMB2):c.4867G>A (p.Gly1623Ser)	LAMB2 (G1623S)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GUncertain significance
Select item 2241627	NM_002292.4(LAMB2):c.4171G>C (p.Gly1391Arg)	LAMB2 (G1391R)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2203392	NM_002292.4(LAMB2):c.4198_4199del (p.Leu1400fs)	LAMB2 (L1400fs)	Deletion (frameshift variant)	Pierson syndrome +1 more	GPathogenic

<< First< Prev

Page of 9