ClinVar for Gene (Select 2880) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3102119	NM_001509.3(GPX5):c.638C>A (p.Ala213Glu)	GPX5 (A213E)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3102118	NM_001509.3(GPX5):c.601C>T (p.Arg201Trp)	GPX5 (R201W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102117	NM_001509.3(GPX5):c.466T>C (p.Cys156Arg)	GPX5 (C156R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102116	NM_001509.3(GPX5):c.445T>C (p.Phe149Leu)	GPX5 (F149L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102115	NM_001509.3(GPX5):c.274T>G (p.Tyr92Asp)	GPX5 (Y92D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102114	NM_001509.3(GPX5):c.220G>T (p.Gly74Cys)	GPX5 (G74C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102113	NM_001509.3(GPX5):c.18G>C (p.Arg6Ser)	GPX5 (R6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623648	NM_001509.3(GPX5):c.236A>C (p.Tyr79Ser)	GPX5 (Y79S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490862	NM_001509.3(GPX5):c.481G>A (p.Glu161Lys)	GPX5 (E161K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2488404	NM_001509.3(GPX5):c.217T>C (p.Cys73Arg)	GPX5 (C73R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456615	NM_001509.3(GPX5):c.208G>A (p.Ala70Thr)	GPX5 (A70T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303836	NM_001509.3(GPX5):c.94T>G (p.Cys32Gly)	GPX5 (C32G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288581	NM_001509.3(GPX5):c.367C>T (p.Arg123Cys)	GPX5 (R123C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2219094	NM_001509.3(GPX5):c.344T>A (p.Ile115Asn)	GPX5 (I115N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211635	NM_001509.3(GPX5):c.275A>G (p.Tyr92Cys)	GPX5 (Y92C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	LOC110121220, LOC110121246 +2579 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144210	GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	ABT1, BTN1A1 +344 more	Copy number gain	See cases	GUncertain significance
Select item 91936	NM_001509.3(GPX5):c.28C>T (p.Leu10=)	GPX5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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Links from Gene

Items: 22