ClinVar for Gene (Select 80740) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246239	NC_000006.11:g.(?_31620520)_(31937492_?)del	ABHD16A, APOM +28 more	Deletion	not provided	GUncertain significance
Select item 3246158	NC_000006.11:g.(?_31631971)_(31895135_?)del	ABHD16A, C2 +23 more	Deletion	not provided	GPathogenic
Select item 3121619	NM_025261.3(LY6G6C):c.314C>A (p.Thr105Asn)	LY6G6C (T105N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121618	NM_025261.3(LY6G6C):c.190C>T (p.Arg64Cys)	LY6G6C (R64C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121617	NM_025261.3(LY6G6C):c.106C>T (p.Arg36Trp)	LY6G6C (R36W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596066	NM_025261.3(LY6G6C):c.298G>A (p.Ala100Thr)	LY6G6C (A100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485181	NM_025261.3(LY6G6C):c.239A>G (p.Asn80Ser)	LY6G6C (N80S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2479977	NM_025261.3(LY6G6C):c.107G>A (p.Arg36Gln)	LY6G6C (R36Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476330	NM_025261.3(LY6G6C):c.104A>C (p.Asp35Ala)	LY6G6C (D35A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 2364180	NM_025261.3(LY6G6C):c.307C>T (p.Arg103Trp)	LY6G6C (R103W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288279	NM_025261.3(LY6G6C):c.174G>C (p.Trp58Cys)	LY6G6C (W58C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527232	GRCh37/hg19 6p21.33(chr6:31384577-31902308)	ABHD16A, AIF1 +40 more	Copy number gain	not specified	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 783628	NM_025261.3(LY6G6C):c.224C>G (p.Ala75Gly)	LY6G6C (A75G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
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
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 20