ClinVar for Gene (Select 2876) - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246864	NC_000003.11:g.(?_48895920)_(49570632_?)del	ARIH2, ARIH2OS +23 more	Deletion	Carnitine acylcarnitine translocase deficiency +2 more	GPathogenic
Select item 3102099	NM_000581.4(GPX1):c.52G>A (p.Ala18Thr)	GPX1 (A18T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102098	NM_000581.4(GPX1):c.331C>T (p.Leu111Phe)	GPX1 (L111F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102097	NM_000581.4(GPX1):c.13C>T (p.Arg5Trp)	GPX1 (R5W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056610	NM_000581.4(GPX1):c.14G>C (p.Arg5Pro)	GPX1 (R5P)	Single nucleotide variant (missense variant)	GPX1-related disorder	GBenign
Select item 3055387	NM_000581.4(GPX1):c.580G>A (p.Ala194Thr)	GPX1 (A148T +1 more)	Single nucleotide variant (missense variant +1 more)	GPX1-related disorder	GBenign
Select item 2689156	NM_000581.4(GPX1):c.223G>T (p.Gly75Cys)	GPX1 (G75C)	Single nucleotide variant (missense variant +1 more)	Gluthathione peroxidase deficiency	GUncertain significance
Select item 2689155	NM_000581.4(GPX1):c.412G>A (p.Asp138Asn)	GPX1 (D138N +2 more)	Single nucleotide variant (missense variant +1 more)	Gluthathione peroxidase deficiency	GUncertain significance
Select item 2689154	NM_000581.4(GPX1):c.85C>A (p.Pro29Thr)	GPX1 (P29T)	Single nucleotide variant (missense variant)	Gluthathione peroxidase deficiency	GUncertain significance
Select item 2689153	NM_000581.4(GPX1):c.8C>T (p.Ala3Val)	GPX1 (A3V)	Single nucleotide variant (missense variant)	Gluthathione peroxidase deficiency	GUncertain significance
Select item 2689152	NM_000581.4(GPX1):c.511C>T (p.Pro171Ser)	GPX1 (P125S +1 more)	Single nucleotide variant (missense variant +1 more)	Gluthathione peroxidase deficiency	GUncertain significance
Select item 2689151	NM_000581.4(GPX1):c.439C>T (p.Pro147Ser)	GPX1 (P101S +2 more)	Single nucleotide variant (missense variant +1 more)	Gluthathione peroxidase deficiency	GUncertain significance
Select item 2611018	NM_000581.4(GPX1):c.572A>T (p.Asp191Val)	GPX1 (D145V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514872	NM_000581.4(GPX1):c.97G>A (p.Gly33Ser)	GPX1 (G33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2432265	NM_000581.4(GPX1):c.228C>A (p.Phe76Leu)	GPX1 (F76L)	Single nucleotide variant (missense variant +1 more)	Gluthathione peroxidase deficiency	GUncertain significance
Select item 2432264	NM_000581.4(GPX1):c.29C>T (p.Ala10Val)	GPX1 (A10V)	Single nucleotide variant (missense variant)	Gluthathione peroxidase deficiency	GUncertain significance
Select item 2432263	NM_000581.4(GPX1):c.164A>G (p.Asp55Gly)	GPX1 (D55G)	Single nucleotide variant (missense variant +1 more)	Gluthathione peroxidase deficiency	GUncertain significance
Select item 2432262	NM_000581.4(GPX1):c.564C>G (p.Ile188Met)	GPX1 (I142M +1 more)	Single nucleotide variant (missense variant +1 more)	Gluthathione peroxidase deficiency	GUncertain significance
Select item 2432261	NM_000581.4(GPX1):c.362G>C (p.Gly121Ala)	GPX1 (G121A +1 more)	Single nucleotide variant (missense variant +2 more)	Gluthathione peroxidase deficiency	GUncertain significance
Select item 2432259	NM_000581.4(GPX1):c.302C>G (p.Pro101Arg)	GPX1 (P101R +1 more)	Single nucleotide variant (missense variant +2 more)	Gluthathione peroxidase deficiency	GUncertain significance
Select item 2432258	NM_000581.4(GPX1):c.52G>T (p.Ala18Ser)	GPX1 (A18S)	Single nucleotide variant (missense variant)	Gluthathione peroxidase deficiency	GUncertain significance
Select item 2432257	NM_000581.4(GPX1):c.21GGC[7] (p.Ala13_Gln14insAla)	GPX1	Microsatellite (inframe_insertion)	Gluthathione peroxidase deficiency	GUncertain significance
Select item 2432256	NM_000581.4(GPX1):c.68C>A (p.Pro23Gln)	GPX1 (P23Q)	Single nucleotide variant (missense variant)	Gluthathione peroxidase deficiency	GUncertain significance
Select item 2432255	NM_000581.4(GPX1):c.592C>T (p.Gln198Ter)	GPX1 (Q152* +1 more)	Single nucleotide variant (nonsense +1 more)	Gluthathione peroxidase deficiency	GUncertain significance
Select item 2411530	NM_000581.4(GPX1):c.259G>C (p.Ala87Pro)	GPX1 (A41P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390646	NM_000581.4(GPX1):c.418G>T (p.Ala140Ser)	GPX1 (A94S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378040	NM_000581.4(GPX1):c.568C>T (p.Pro190Ser)	GPX1 (P144S +1 more)	Single nucleotide variant (missense variant +1 more)	Gluthathione peroxidase deficiency +1 more	GUncertain significance
Select item 2362014	NM_000581.4(GPX1):c.395C>T (p.Ala132Val)	GPX1 (A132V +1 more)	Single nucleotide variant (missense variant +2 more)	Gluthathione peroxidase deficiency +1 more	GUncertain significance
Select item 2333006	NM_000581.4(GPX1):c.262A>C (p.Lys88Gln)	GPX1 (Q94P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308960	NM_000581.4(GPX1):c.125T>C (p.Ile42Thr)	GPX1 (I42T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295197	NM_000581.4(GPX1):c.140C>T (p.Ser47Phe)	GPX1 (S47F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283336	NM_000581.4(GPX1):c.124A>T (p.Ile42Phe)	GPX1 (I42F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270656	NM_000581.4(GPX1):c.286C>T (p.Leu96Phe)	GPX1 (L50F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527017	GRCh37/hg19 3p21.31(chr3:49060512-49678685)	AMT, BSN +17 more	Copy number gain	not specified	GUncertain significance
Select item 1510798	NC_000003.11:g.(?_49394821)_(49459947_?)dup	AMT, GPX1 +3 more	Duplication	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1276107	NM_000581.4(GPX1):c.21GGC[4] (p.Ala12_Ala13del)	GPX1	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 1252486	NM_000581.4(GPX1):c.-46C>T	GPX1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1236610	NC_000003.12:g.49357126dup	GPX1	Duplication	not provided	GBenign
Select item 1230493	NM_000581.4(GPX1):c.21GGC[5] (p.Ala13del)	GPX1 (A13del)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	COL7A1, DAG1 +62 more	Deletion	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	MST1, ARIH2 +64 more	Copy number loss	not provided	GPathogenic
Select item 833037	NC_000003.12:g.(?_49121216)_(49533209_?)del	C3orf62, C3orf84 +11 more	Deletion	Pierson syndrome +1 more	GPathogenic
Select item 814442	GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1	PRKAR2A, ATRIP +42 more	Copy number loss	not provided	GPathogenic
Select item 784004	NM_000581.4(GPX1):c.231G>T (p.Pro77=)	GPX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +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 155444	GRCh38/hg38 3p21.31(chr3:49171381-49474635)x3	AMT, C3orf62 +29 more	Copy number gain	See cases	GUncertain significance
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 16082	NM_000581.4(GPX1):c.599C>T (p.Pro200Leu)	GPX1 (P200L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign

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Links from Gene

Items: 51