Related gene-specific medical variations for Gene (Select 3914) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361673	NM_000228.3(LAMB3):c.2458G>A (p.Gly820Ser)	LAMB3 (G820S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247879	NC_000001.10:g.(?_209823299)_(209825713_?)del	LAMB3	Deletion	not provided	GPathogenic
Select item 3247878	NC_000001.10:g.(?_209791232)_(209792024_?)del	LAMB3	Deletion	not provided	GPathogenic
Select item 3065678	NM_000228.3(LAMB3):c.1598-1G>T	LAMB3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa, non-Herlitz type	GLikely pathogenic
Select item 3065670	NM_000228.3(LAMB3):c.1482C>G (p.Asn494Lys)	LAMB3 (N494K)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 3065544	NM_000228.3(LAMB3):c.972_973del (p.Cys325fs)	LAMB3 (C325fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa, non-Herlitz type	GLikely pathogenic
Select item 2898148	NM_000228.3(LAMB3):c.2358+18G>A	LAMB3, MIR4260	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2796190	NM_000228.3(LAMB3):c.2358+10G>A	LAMB3, MIR4260	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2431515	NM_000228.3(LAMB3):c.-38+1G>T	LAMB3, LOC126805999	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz	GUncertain significance
Select item 2000102	NM_000228.3(LAMB3):c.2358+1G>A	LAMB3, MIR4260	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1285919	NM_000228.3(LAMB3):c.-38+328A>G	LAMB3, LOC126805999	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1087355	NM_000228.3(LAMB3):c.2355C>T (p.Asn785=)	LAMB3, MIR4260	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 876214	NM_000228.3(LAMB3):c.-72C>A	LOC126805999, LAMB3	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GUncertain significance
Select item 876213	NM_000228.3(LAMB3):c.-38+14C>T	LAMB3, LOC126805999	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa	GUncertain significance
Select item 592016	NM_000228.3(LAMB3):c.3229-1G>T	LAMB3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 591326	NM_000228.3(LAMB3):c.3432_3434delinsGGT (p.Ala1145Val)	LAMB3 (A1145V)	Indel (missense variant)	not provided	GUncertain significance
Select item 591117	NM_000228.3(LAMB3):c.2271AGG[3] (p.Gly761del)	LAMB3 (G761del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 523029	NM_000228.3(LAMB3):c.1344_1345del (p.Ser448fs)	LAMB3 (S448fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz	GPathogenic
Select item 370879	NM_000228.3(LAMB3):c.2358+2T>C	LAMB3, MIR4260	Single nucleotide variant (non-coding transcript variant +1 more)	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 295153	NM_000228.3(LAMB3):c.-55G>A	LAMB3, LOC126805999	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa	GLikely benign
Select item 295152	NM_000228.3(LAMB3):c.-53C>T	LAMB3, LOC126805999	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa	GUncertain significance
Select item 255583	NM_000228.3(LAMB3):c.1258C>G (p.Leu420Val)	LAMB3 (L420V)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 203994	NM_000228.3(LAMB3):c.133T>G (p.Ser45Ala)	LAMB3 (S45A)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 21132	NM_000228.2(LAMB3):c.957_958ins77 (p.?)	LAMB3	Insertion	Junctional epidermolysis bullosa gravis of Herlitz	GPathogenic

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Links from Gene

Items: 24