LMBR1L[gene] - ClinVar

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

Search results

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 3119234	NM_018113.4(LMBR1L):c.1437C>A (p.Phe479Leu)	LMBR1L (F271L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397645	NM_018113.4(LMBR1L):c.1432G>A (p.Gly478Ser)	LMBR1L (G277S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620929	NM_018113.4(LMBR1L):c.1414C>G (p.Leu472Val)	LMBR1L (L352V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596671	NM_018113.4(LMBR1L):c.1378C>T (p.Arg460Trp)	LMBR1L (R340W +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214769	NM_018113.4(LMBR1L):c.1336C>T (p.Leu446Phe)	LMBR1L (L426F +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119233	NM_018113.4(LMBR1L):c.1229C>T (p.Ser410Phe)	LMBR1L (S405F +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119232	NM_018113.4(LMBR1L):c.1209C>G (p.Ser403Arg)	LMBR1L (S256R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360708	NM_018113.4(LMBR1L):c.1169C>T (p.Thr390Met)	LMBR1L (T397M +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340845	NM_018113.4(LMBR1L):c.1156G>A (p.Asp386Asn)	LMBR1L (D393N +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608582	NM_018113.4(LMBR1L):c.1150T>A (p.Trp384Arg)	LMBR1L (W391R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230472	NM_018113.4(LMBR1L):c.1103T>C (p.Val368Ala)	LMBR1L (V160A +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620715	NM_018113.4(LMBR1L):c.998G>A (p.Arg333Gln)	LMBR1L (R206Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516538	NM_018113.4(LMBR1L):c.947T>C (p.Ile316Thr)	LMBR1L (I189T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217425	NM_018113.4(LMBR1L):c.946A>G (p.Ile316Val)	LMBR1L (I189V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119237	NM_018113.4(LMBR1L):c.925C>G (p.Leu309Val)	LMBR1L (L251V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1285608	NM_018113.4(LMBR1L):c.863G>A (p.Arg288Gln)	LMBR1L (R161Q +4 more)	Single nucleotide variant (missense variant)	DSD incomplete virilization	GLikely pathogenic
Select item 1285609	NM_018113.4(LMBR1L):c.862C>T (p.Arg288Trp)	LMBR1L (R161W +4 more)	Single nucleotide variant (missense variant)	DSD incomplete virilization	GLikely pathogenic
Select item 3119236	NM_018113.4(LMBR1L):c.757C>T (p.Arg253Cys)	LMBR1L (R248C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488741	NM_018113.4(LMBR1L):c.719A>G (p.Gln240Arg)	LMBR1L (Q240R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568931	NM_018113.4(LMBR1L):c.667G>A (p.Val223Ile)	LMBR1L (V165I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290893	NM_018113.4(LMBR1L):c.578A>G (p.Tyr193Cys)	LMBR1L (I7V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119235	NM_018113.4(LMBR1L):c.476T>C (p.Met159Thr)	LMBR1L (M159T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284228	NM_018113.4(LMBR1L):c.434A>G (p.Lys145Arg)	LMBR1L (K18R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290895	NM_018113.4(LMBR1L):c.389T>C (p.Phe130Ser)	LMBR1L (F3S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484423	NM_018113.4(LMBR1L):c.359C>T (p.Ser120Phe)	LMBR1L (S115F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270603	NM_018113.4(LMBR1L):c.242T>G (p.Leu81Arg)	LMBR1L (L76R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3290896	NM_018113.4(LMBR1L):c.241C>T (p.Leu81Phe)	LMBR1L (L76F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3290894	NM_018113.4(LMBR1L):c.208T>C (p.Phe70Leu)	LMBR1L (F65L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2229078	NM_018113.4(LMBR1L):c.190G>A (p.Ala64Thr)	LMBR1L (A64T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2460298	NM_018113.4(LMBR1L):c.155C>T (p.Thr52Ile)	LMBR1L (T52I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1285610	NM_018113.4(LMBR1L):c.115A>G (p.Ile39Val)	LMBR1L (I39V)	Single nucleotide variant (5 prime UTR variant +1 more)	DSD incomplete virilization	GUncertain significance
Select item 2493935	NM_018113.4(LMBR1L):c.64G>A (p.Glu22Lys)	LMBR1L (E22K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2213104	NM_018113.4(LMBR1L):c.64G>C (p.Glu22Gln)	LMBR1L (E22Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2531481	NM_018113.4(LMBR1L):c.15C>A (p.Asp5Glu)	LMBR1L (D5E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979964	GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3	ADCY6, ARF3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 563945	GRCh37/hg19 12q13.12(chr12:49191810-49630201)x3	CCDC65, WNT10B +14 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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: 44