ClinVar for Gene (Select 55716) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2493935	NM_018113.4(LMBR1L):c.64G>A (p.Glu22Lys)	LMBR1L (E22K)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 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 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 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 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 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 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 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 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 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
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 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 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 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
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 44