GPX8[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LOC126807363, LOC126807364 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 150391	GRCh38/hg38 5q11.2(chr5:55028257-55939697)x3	CCNO, CCNO-DT +35 more	Copy number gain	See cases	GUncertain significance
Select item 2252348	NM_001008397.4(GPX8):c.97T>C (p.Phe33Leu)	CDC20B, GPX8 (F33L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469048	NM_001008397.4(GPX8):c.167A>G (p.Lys56Arg)	CDC20B, GPX8 (K56R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2281605	NM_001008397.4(GPX8):c.222C>G (p.Asn74Lys)	CDC20B, GPX8 (N23K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102124	NM_001008397.4(GPX8):c.269A>G (p.Lys90Arg)	CDC20B, GPX8 (K39R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 785122	NM_001008397.4(GPX8):c.351C>T (p.Arg117=)	CDC20B, GPX8	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2599146	NM_001008397.4(GPX8):c.365T>C (p.Val122Ala)	CDC20B, GPX8 (V122A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2332710	NM_001008397.4(GPX8):c.371C>G (p.Ser124Cys)	CDC20B, GPX8 (S73C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2235376	NM_001008397.4(GPX8):c.414C>G (p.His138Gln)	CDC20B, GPX8 (H87Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2515438	NM_001008397.4(GPX8):c.505T>G (p.Tyr169Asp)	CDC20B, GPX8 (Y76D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 2424366	NC_000005.9:g.(?_52285299)_(56189507_?)del	GZMA, FST +23 more	Deletion	not provided	GPathogenic
Select item 635932	NC_000005.9:g.53180658_54552379dup	ARL15, CCNO +11 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 226251	GRCh37/hg19 5q11.2(chr5:53784524-54985838)	SLC38A9, SNX18 +12 more	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 23