AGPAT1[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 3096355	NM_006411.4(AGPAT1):c.809G>A (p.Arg270Gln)	AGPAT1, LOC126859655 (R274Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546642	NM_006411.4(AGPAT1):c.788G>A (p.Arg263Gln)	AGPAT1, LOC126859655	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372813	NM_006411.4(AGPAT1):c.187G>A (p.Val63Ile)	AGPAT1	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 1527233	GRCh37/hg19 6p21.33-21.32(chr6:31952482-32243155)	AGER, AGPAT1 +13 more	Copy number gain	not specified	GUncertain significance
Select item 814808	GRCh37/hg19 6p21.33-21.32(chr6:31916915-32278000)x3	AGER, AGPAT1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 686165	GRCh37/hg19 6p21.33-21.32(chr6:32027371-32448599)x3	HLA-DRA, NOTCH4 +13 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 253700	GRCh37/hg19 6p21.33-21.32(chr6:32052479-32184403)x3	AGER, PRRT1 +10 more	Copy number gain	See cases	GUncertain significance