Related gene-specific medical variations for Gene (Select 8270) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357145	NM_006014.5(LAGE3):c.60C>A (p.Gly20=)	LAGE3, LOC130068876	Single nucleotide variant (synonymous variant)	LAGE3-related disorder	GLikely benign
Select item 3117348	NM_006014.5(LAGE3):c.26G>A (p.Gly9Asp)	LAGE3, LOC130068876 (G9D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058093	NM_006014.5(LAGE3):c.52C>A (p.Arg18=)	LAGE3, LOC130068876	Single nucleotide variant (synonymous variant)	LAGE3-related disorder	GLikely benign
Select item 3058085	NM_006014.5(LAGE3):c.54G>C (p.Arg18=)	LAGE3, LOC130068876	Single nucleotide variant (synonymous variant)	LAGE3-related disorder	GLikely benign
Select item 3025706	NM_006014.5(LAGE3):c.32G>T (p.Gly11Val)	LAGE3, LOC130068876 (G11V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004473	NM_006014.5(LAGE3):c.156G>A (p.Ala52=)	LAGE3, LOC130068876	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862312	NM_006014.5(LAGE3):c.78C>G (p.Gly26=)	LAGE3, LOC130068876	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862136	NM_006014.5(LAGE3):c.131G>T (p.Gly44Val)	LAGE3, LOC130068876 (G44V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851403	NM_006014.5(LAGE3):c.181C>T (p.His61Tyr)	LAGE3, LOC130068876 (H61Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795118	NM_006014.5(LAGE3):c.162G>A (p.Arg54=)	LAGE3, LOC130068876	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2692800	NM_006014.5(LAGE3):c.62A>G (p.His21Arg)	LAGE3, LOC130068876 (H21R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2665070	NM_006014.5(LAGE3):c.184A>G (p.Ile62Val)	LAGE3, LOC130068876 (I62V)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 2, X-linked	GUncertain significance
Select item 2637333	NM_006014.5(LAGE3):c.95C>T (p.Ala32Val)	LAGE3, LOC130068876 (A32V)	Single nucleotide variant (missense variant)	LAGE3-related disorder	GUncertain significance
Select item 2637107	NM_006014.5(LAGE3):c.169C>T (p.Arg57Ter)	LAGE3, LOC130068876 (R57*)	Single nucleotide variant (nonsense)	LAGE3-related disorder	GUncertain significance
Select item 2629511	NM_006014.5(LAGE3):c.109G>A (p.Ala37Thr)	LAGE3, LOC130068876 (A37T)	Single nucleotide variant (missense variant)	LAGE3-related disorder	GUncertain significance
Select item 2573023	NM_006014.5(LAGE3):c.189-2A>G	LAGE3	Single nucleotide variant (splice acceptor variant)	Galloway-Mowat syndrome 2, X-linked	GUncertain significance
Select item 2490387	NM_006014.5(LAGE3):c.139A>G (p.Arg47Gly)	LAGE3, LOC130068876 (R47G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2486329	NM_006014.5(LAGE3):c.85A>G (p.Thr29Ala)	LAGE3, LOC130068876 (T29A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429571	NM_006014.5(LAGE3):c.116dup (p.Ala40fs)	LAGE3, LOC130068876 (A40fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2375075	NM_006014.5(LAGE3):c.137G>A (p.Gly46Asp)	LAGE3, LOC130068876 (G46D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211547	NM_006014.5(LAGE3):c.119C>A (p.Ala40Glu)	LAGE3, LOC130068876 (A40E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2149886	NM_006014.5(LAGE3):c.122A>C (p.His41Pro)	LAGE3, LOC130068876 (H41P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2144225	NM_006014.5(LAGE3):c.28G>A (p.Gly10Arg)	LAGE3, LOC130068876 (G10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093903	NM_006014.5(LAGE3):c.127C>A (p.Pro43Thr)	LAGE3, LOC130068876 (P43T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056836	NM_006014.5(LAGE3):c.50G>A (p.Gly17Asp)	LAGE3, LOC130068876 (G17D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1897349	NM_006014.5(LAGE3):c.175C>T (p.Arg59Trp)	LAGE3, LOC130068876 (R59W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803463	NM_006014.5(LAGE3):c.64dup (p.Ser22fs)	LAGE3, LOC130068876 (S22fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1558003	NM_006014.5(LAGE3):c.188+10C>G	LAGE3, LOC130068876	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1422711	NM_006014.5(LAGE3):c.27C>T (p.Gly9=)	LAGE3, LOC130068876	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1325579	NM_006014.5(LAGE3):c.287A>T (p.Asp96Val)	LAGE3 (D96V)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 2, X-linked	GUncertain significance
Select item 1319855	NM_006014.5(LAGE3):c.29G>A (p.Gly10Glu)	LAGE3, LOC130068876 (G10E)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 2, X-linked +1 more	GUncertain significance
Select item 789503	NM_006014.5(LAGE3):c.179C>T (p.Pro60Leu)	LAGE3, LOC130068876 (P60L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769192	NM_006014.5(LAGE3):c.46G>A (p.Asp16Asn)	LAGE3, LOC130068876 (D16N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 765070	NM_006014.5(LAGE3):c.175C>A (p.Arg59=)	LAGE3, LOC130068876	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 752276	NM_006014.5(LAGE3):c.71G>A (p.Arg24His)	LAGE3, LOC130068876 (R24H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 741350	NM_006014.5(LAGE3):c.91G>A (p.Ala31Thr)	LAGE3, LOC130068876 (A31T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 444873	NM_006014.5(LAGE3):c.188+1G>A	LAGE3, LOC130068876	Single nucleotide variant (splice donor variant)	Galloway-Mowat syndrome 2, X-linked	GPathogenic

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Links from Gene

Items: 37