"Ambry Genetics"[submitter] AND "LBR"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 295929	NM_002296.4(LBR):c.1828A>G (p.Ile610Val)	LBR (I610V)	Single nucleotide variant (missense variant)	Greenberg dysplasia +2 more	GUncertain significance
Select item 2137818	NM_002296.4(LBR):c.1789G>C (p.Val597Leu)	LBR (V597L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2230146	NM_002296.4(LBR):c.1772G>A (p.Cys591Tyr)	LBR (C591Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2955186	NM_002296.4(LBR):c.1630C>T (p.Arg544Cys)	LBR (R544C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3118002	NM_002296.4(LBR):c.1621G>C (p.Gly541Arg)	LBR (G541R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230664	NM_002296.4(LBR):c.1483C>A (p.Leu495Ile)	LBR (L495I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218443	NM_002296.4(LBR):c.1430G>C (p.Ser477Thr)	LBR (S477T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2400104	NM_002296.4(LBR):c.1384G>T (p.Val462Leu)	LBR (V462L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599968	NM_002296.4(LBR):c.1127C>G (p.Pro376Arg)	LBR (P376R)	Single nucleotide variant (missense variant)	Greenberg dysplasia +1 more	GUncertain significance
Select item 2620328	NM_002296.4(LBR):c.1115G>T (p.Arg372Leu)	LBR (R372L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 874221	NM_002296.4(LBR):c.1115G>A (p.Arg372His)	LBR (R372H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2332905	NM_002296.4(LBR):c.1070C>T (p.Ser357Leu)	LBR (S357L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296648	NM_002296.4(LBR):c.1039C>T (p.Arg347Cys)	LBR (R347C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1946672	NM_002296.4(LBR):c.1024G>A (p.Val342Met)	LBR (V342M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1702452	NM_002296.4(LBR):c.991C>T (p.Leu331Phe)	LBR (L331F)	Single nucleotide variant (missense variant)	Greenberg dysplasia +2 more	GUncertain significance
Select item 2552630	NM_002296.4(LBR):c.950T>C (p.Val317Ala)	LBR (V317A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1010875	NM_002296.4(LBR):c.928G>A (p.Gly310Arg)	LBR (G310R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2555682	NM_002296.4(LBR):c.920C>T (p.Ala307Val)	LBR (A307V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 295939	NM_002296.4(LBR):c.899A>G (p.Tyr300Cys)	LBR (Y300C)	Single nucleotide variant (missense variant)	Greenberg dysplasia +3 more	GConflicting classifications of pathogenicity
Select item 618700	NM_002296.4(LBR):c.851C>T (p.Thr284Met)	LBR (T284M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2286230	NM_002296.4(LBR):c.847G>A (p.Gly283Arg)	LBR (G283R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470819	NM_002296.4(LBR):c.760T>G (p.Trp254Gly)	LBR (W254G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 875143	NM_002296.4(LBR):c.743C>T (p.Pro248Leu)	LBR (P248L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3290224	NM_002296.4(LBR):c.652A>G (p.Ile218Val)	LBR (I218V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1432397	NM_002296.4(LBR):c.608G>A (p.Arg203Gln)	LBR (R203Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2258487	NM_002296.4(LBR):c.599C>A (p.Thr200Asn)	LBR (T200N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 876103	NM_002296.4(LBR):c.575T>G (p.Leu192Arg)	LBR (L192R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 876104	NM_002296.4(LBR):c.562G>A (p.Val188Ile)	LBR (V188I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3118005	NM_002296.4(LBR):c.515G>T (p.Arg172Ile)	LBR (R172I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225163	NM_002296.4(LBR):c.487G>C (p.Ala163Pro)	LBR (A163P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290223	NM_002296.4(LBR):c.398A>T (p.Asn133Ile)	LBR (N133I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 218604	NM_002296.4(LBR):c.367-5T>C	LBR	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3118004	NM_002296.4(LBR):c.332G>A (p.Arg111Lys)	LBR (R111K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 586110	NM_002296.4(LBR):c.283C>T (p.Arg95Cys)	LBR (R95C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 748574	NM_002296.4(LBR):c.271C>T (p.Pro91Ser)	LBR (P91S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2394348	NM_002296.4(LBR):c.248G>A (p.Arg83His)	LBR (R83H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 295947	NM_002296.4(LBR):c.206C>T (p.Ser69Phe)	LBR (S69F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2236895	NM_002296.4(LBR):c.120G>C (p.Lys40Asn)	LBR (K40N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339166	NM_002296.4(LBR):c.100T>G (p.Ser34Ala)	LBR (S34A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290225	NM_002296.4(LBR):c.34G>A (p.Val12Ile)	LBR (V12I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118003	NM_002296.4(LBR):c.22G>A (p.Asp8Asn)	LBR (D8N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 41