"LAMB3-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1078823	NM_000228.3(LAMB3):c.3411C>T (p.Ser1137=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 295070	NM_000228.3(LAMB3):c.3124C>T (p.Arg1042Trp)	LAMB3 (R1042W)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa +2 more	GLikely benign
Select item 745780	NM_000228.3(LAMB3):c.2962C>A (p.Arg988=)	LAMB3	Single nucleotide variant (synonymous variant)	LAMB3-related condition +1 more	GLikely benign
Select item 295075	NM_000228.3(LAMB3):c.2933G>C (p.Gly978Ala)	LAMB3 (G978A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 721473	NM_000228.3(LAMB3):c.2871G>A (p.Ala957=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 295078	NM_000228.3(LAMB3):c.2831A>G (p.Asn944Ser)	LAMB3 (N944S)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa +2 more	GUncertain significance
Select item 783963	NM_000228.3(LAMB3):c.2286C>T (p.Thr762=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 715857	NM_000228.3(LAMB3):c.2147G>A (p.Arg716Gln)	LAMB3 (R716Q)	Single nucleotide variant (missense variant)	LAMB3-related condition +1 more	GLikely benign
Select item 14539	NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)	LAMB3 (R635*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +5 more	GPathogenic
Select item 1068583	NM_000228.3(LAMB3):c.1702C>T (p.Gln568Ter)	LAMB3 (Q568*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 763952	NM_000228.3(LAMB3):c.1616G>A (p.Arg539Gln)	LAMB3 (R539Q)	Single nucleotide variant (missense variant)	LAMB3-related condition +3 more	GConflicting classifications of pathogenicity
Select item 763596	NM_000228.3(LAMB3):c.1549C>T (p.Arg517Cys)	LAMB3 (R517C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 295109	NM_000228.3(LAMB3):c.1413G>A (p.Lys471=)	LAMB3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 728935	NM_000228.3(LAMB3):c.1194G>A (p.Gln398=)	LAMB3	Single nucleotide variant (synonymous variant)	LAMB3-related condition +2 more	GBenign/Likely benign
Select item 282914	NM_000228.3(LAMB3):c.1188C>T (p.Thr396=)	LAMB3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 3057135	NM_000228.3(LAMB3):c.1133-30C>T	LAMB3	Single nucleotide variant (intron variant)	LAMB3-related condition	GLikely benign
Select item 295116	NM_000228.3(LAMB3):c.1051G>A (p.Glu351Lys)	LAMB3 (E351K)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa +3 more	GConflicting classifications of pathogenicity
Select item 279829	NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs)	LAMB3 (N345fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 295123	NM_000228.3(LAMB3):c.927C>T (p.Asp309=)	LAMB3	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa +2 more	GConflicting classifications of pathogenicity
Select item 747357	NM_000228.3(LAMB3):c.875G>T (p.Arg292Leu)	LAMB3 (R292L)	Single nucleotide variant (missense variant)	LAMB3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 3032700	NM_000228.3(LAMB3):c.629-5C>A	LAMB3	Single nucleotide variant (intron variant)	LAMB3-related condition	GLikely benign
Select item 762379	NM_000228.3(LAMB3):c.453C>T (p.Ala151=)	LAMB3	Single nucleotide variant (synonymous variant)	LAMB3-related condition +1 more	GLikely benign
Select item 14541	NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter)	LAMB3 (R42*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta type 1A +4 more	GPathogenic
Select item 633285	NM_000228.3(LAMB3):c.31dup (p.Leu11fs)	LAMB3 (L11fs)	Duplication (frameshift variant)	Amelogenesis imperfecta type 1A +4 more	GPathogenic
Select item 782082	NM_000228.3(LAMB3):c.15C>T (p.Phe5=)	LAMB3	Single nucleotide variant (synonymous variant)	LAMB3-related condition +2 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25