ClinVar for Gene (Select 79442) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291516	NM_024512.5(LRRC2):c.127A>G (p.Ile43Val)	LRRC2 (I43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291515	NM_024512.5(LRRC2):c.462C>G (p.Asn154Lys)	LOC129936644, LRRC2 (N154K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120444	NM_024512.5(LRRC2):c.767T>C (p.Ile256Thr)	LRRC2 (I256T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120443	NM_024512.5(LRRC2):c.472C>T (p.His158Tyr)	LOC129936644, LRRC2 (H158Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120442	NM_024512.5(LRRC2):c.322G>C (p.Glu108Gln)	LRRC2 (E108Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120441	NM_024512.5(LRRC2):c.115G>A (p.Ala39Thr)	LRRC2 (A39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120440	NM_024512.5(LRRC2):c.1065A>T (p.Arg355Ser)	LOC126806673, LRRC2 (R355S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120439	NM_024512.5(LRRC2):c.1010G>A (p.Arg337His)	LOC126806673, LRRC2 (R337H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549164	NM_024512.5(LRRC2):c.392C>T (p.Thr131Ile)	LRRC2 (T131I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521282	NM_024512.5(LRRC2):c.257G>C (p.Arg86Thr)	LRRC2 (R86T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518075	NM_024512.5(LRRC2):c.195G>T (p.Lys65Asn)	LRRC2 (K65N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517385	NM_024512.5(LRRC2):c.221G>A (p.Arg74Gln)	LRRC2 (R74Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487897	NM_024512.5(LRRC2):c.536T>C (p.Leu179Pro)	LRRC2 (L179P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455111	NM_024512.5(LRRC2):c.1046T>C (p.Ile349Thr)	LOC126806673, LRRC2 (I349T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2410589	NM_024512.5(LRRC2):c.837G>A (p.Met279Ile)	LRRC2 (M279I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383838	NM_024512.5(LRRC2):c.1030G>A (p.Val344Ile)	LOC126806673, LRRC2 (V344I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357816	NM_024512.5(LRRC2):c.14T>C (p.Val5Ala)	LRRC2 (V5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320088	NM_024512.5(LRRC2):c.758C>T (p.Pro253Leu)	LRRC2 (P253L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315867	NM_024512.5(LRRC2):c.1094T>C (p.Val365Ala)	LRRC2 (V365A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214938	NM_024512.5(LRRC2):c.289C>T (p.Arg97Trp)	LRRC2 (R97W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204984	NM_024512.5(LRRC2):c.923C>A (p.Pro308His)	LRRC2 (P308H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204983	NM_024512.5(LRRC2):c.919A>C (p.Thr307Pro)	LRRC2 (T307P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 785049	NM_024512.5(LRRC2):c.1009C>T (p.Arg337Cys)	LOC126806673, LRRC2 (R337C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 731673	NM_024512.5(LRRC2):c.533A>C (p.Tyr178Ser)	LRRC2 (Y178S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 712053	NM_024512.5(LRRC2):c.349T>A (p.Leu117Met)	LRRC2 (L117M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 708653	NM_024512.5(LRRC2):c.953C>T (p.Pro318Leu)	LOC126806673, LRRC2 (P318L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 33