Related gene-specific medical variations for Gene (Select 3913) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246917	NC_000003.11:g.(?_49161700)_(49165984_?)dup	LAMB2	Duplication	LAMB2-related infantile-onset nephrotic 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 2946364	NM_002292.4(LAMB2):c.2541T>C (p.Ser847=)	LAMB2, LOC129936738	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GLikely benign
Select item 2690633	NM_002292.4(LAMB2):c.3625C>T (p.Gln1209Ter)	LAMB2 (Q1209*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2689359	NM_002292.4(LAMB2):c.364G>C (p.Ala122Pro)	LAMB2 (A122P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689358	NM_002292.4(LAMB2):c.5390G>T (p.Cys1797Phe)	LAMB2 (C1797F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2623336	NM_002292.4(LAMB2):c.2623C>T (p.Arg875Trp)	LAMB2, LOC129936738 (R875W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620714	NM_002292.4(LAMB2):c.2567C>T (p.Ala856Val)	LAMB2, LOC129936738 (A856V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582428	NM_002292.4(LAMB2):c.1598+2T>C	LAMB2	Single nucleotide variant (splice donor variant)	LAMB2-related infantile-onset nephrotic syndrome	GLikely pathogenic
Select item 2554080	NM_002292.4(LAMB2):c.2587C>T (p.Arg863Cys)	LAMB2, LOC129936738 (R863C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500786	NM_002292.4(LAMB2):c.2494C>T (p.Gln832Ter)	LAMB2, LOC129936738 (Q832*)	Single nucleotide variant (nonsense)	Pierson syndrome	GPathogenic
Select item 2494860	NM_002292.4(LAMB2):c.2614C>T (p.Pro872Ser)	LAMB2, LOC129936738 (P872S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441092	NM_002292.4(LAMB2):c.2553_2554del (p.Cys852fs)	LAMB2, LOC129936738 (C852fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2433392	NM_002292.4(LAMB2):c.1087T>C (p.Tyr363His)	LAMB2 (Y363H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433391	NM_002292.4(LAMB2):c.5394del (p.Gln1798fs)	LAMB2 (Q1798fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2433390	NM_002292.4(LAMB2):c.1390C>T (p.Arg464Cys)	LAMB2 (R464C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125793	NM_002292.4(LAMB2):c.2571T>C (p.Phe857=)	LAMB2, LOC129936738	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GLikely benign
Select item 2083746	NM_002292.4(LAMB2):c.2586C>T (p.Asp862=)	LAMB2, LOC129936738	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GLikely benign
Select item 2001175	NM_002292.4(LAMB2):c.2552T>C (p.Leu851Pro)	LAMB2, LOC129936738 (L851P)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 1714894	NM_002292.4(LAMB2):c.2573G>A (p.Gly858Glu)	LAMB2, LOC129936738 (G858E)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 1516280	NM_002292.4(LAMB2):c.2611T>C (p.Phe871Leu)	LAMB2, LOC129936738 (F871L)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 1472330	NM_002292.4(LAMB2):c.2578C>T (p.Arg860Cys)	LAMB2, LOC129936738 (R860C)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 1445910	NM_002292.4(LAMB2):c.2630G>T (p.Cys877Phe)	LAMB2, LOC129936738 (C877F)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 1361204	NM_002292.4(LAMB2):c.2513C>T (p.Ala838Val)	LAMB2, LOC129936738 (A838V)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 1348912	NM_002292.4(LAMB2):c.2597G>C (p.Arg866Pro)	LAMB2, LOC129936738 (R866P)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 1344733	NM_002292.4(LAMB2):c.4537C>T (p.Gln1513Ter)	LAMB2 (Q1513*)	Single nucleotide variant (nonsense)	Nephrotic syndrome	GLikely pathogenic
Select item 1344724	NM_002292.4(LAMB2):c.1731+1G>A	LAMB2	Single nucleotide variant (splice donor variant)	Nephrotic syndrome	GLikely pathogenic
Select item 1344709	NM_002292.4(LAMB2):c.143A>C (p.Tyr48Ser)	LAMB2 (Y48S)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GLikely pathogenic
Select item 1323181	NM_002292.4(LAMB2):c.4285C>T (p.Arg1429Ter)	LAMB2 (R1429*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1062779	NM_002292.4(LAMB2):c.2509G>A (p.Gly837Arg)	LAMB2, LOC129936738 (G837R)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 1055301	NM_002292.4(LAMB2):c.2558G>A (p.Arg853Gln)	LAMB2, LOC129936738 (R853Q)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 1036249	NM_002292.4(LAMB2):c.2558G>T (p.Arg853Leu)	LAMB2, LOC129936738 (R853L)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 1016999	NM_002292.4(LAMB2):c.2579G>A (p.Arg860His)	LAMB2, LOC129936738 (R860H)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 974892	NM_002292.4(LAMB2):c.4276dup (p.Ala1426fs)	LAMB2 (A1426fs)	Duplication (frameshift variant)	Pierson syndrome	GLikely pathogenic
Select item 961492	NM_002292.4(LAMB2):c.2626C>T (p.Pro876Ser)	LAMB2, LOC129936738 (P876S)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 901508	NM_002292.4(LAMB2):c.2506G>A (p.Glu836Lys)	LAMB2, LOC129936738 (E836K)	Single nucleotide variant (missense variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GUncertain significance
Select item 855038	NM_002292.4(LAMB2):c.2521A>C (p.Ser841Arg)	LAMB2, LOC129936738 (S841R)	Single nucleotide variant (missense variant)	Pierson syndrome +1 more	GUncertain significance
Select item 705972	NM_002292.4(LAMB2):c.2505C>T (p.His835=)	LAMB2, LOC129936738	Single nucleotide variant (synonymous variant)	Pierson syndrome +1 more	GBenign/Likely benign
Select item 648085	NM_002292.4(LAMB2):c.2588G>A (p.Arg863His)	LAMB2, LOC129936738 (R863H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 429193	NM_002292.4(LAMB2):c.1307del (p.Gly436fs)	LAMB2 (G436fs)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 258609	NM_002292.4(LAMB2):c.3732C>T (p.Ile1244=)	LAMB2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 258597	NM_002292.4(LAMB2):c.1291C>T (p.Leu431=)	LAMB2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 242715	NM_002292.4(LAMB2):c.4177C>T (p.Leu1393Phe)	LAMB2 (L1393F)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant

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Links from Gene

Items: 43