GPX6[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 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 3102122	NM_182701.1(GPX6):c.583G>A (p.Val195Ile)	GPX6 (V195I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457985	NM_182701.1(GPX6):c.571G>A (p.Asp191Asn)	GPX6 (D191N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781864	NM_182701.1(GPX6):c.482A>G (p.Asp161Gly)	GPX6 (D161G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3102121	NM_182701.1(GPX6):c.475A>T (p.Thr159Ser)	GPX6 (T159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282566	NM_182701.1(GPX6):c.395T>C (p.Phe132Ser)	GPX6 (F132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494819	NM_182701.1(GPX6):c.233A>G (p.Gln78Arg)	GPX6 (Q78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285654	NM_182701.1(GPX6):c.212C>T (p.Ala71Val)	GPX6 (A71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785161	NM_182701.1(GPX6):c.157T>C (p.Tyr53His)	GPX6 (Y53H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2237072	NM_182701.1(GPX6):c.139A>G (p.Thr47Ala)	GPX6 (T47A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247542	NM_182701.1(GPX6):c.134C>A (p.Ala45Asp)	GPX6 (A45D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525138	NM_182701.1(GPX6):c.47T>C (p.Val16Ala)	GPX6 (V16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102120	NM_182701.1(GPX6):c.17A>T (p.Gln6Leu)	GPX6 (Q6L)	Single nucleotide variant (missense variant)	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)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic