ClinVar for Gene (Select 23564) - ClinVar - NCBI

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Links from Gene

Items: 16

	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 3080698	NM_001303007.2(DDAH2):c.806G>T (p.Gly269Val)	DDAH2 (G269V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080697	NM_001303007.2(DDAH2):c.607A>G (p.Thr203Ala)	DDAH2 (T203A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080696	NM_001303007.2(DDAH2):c.454G>C (p.Val152Leu)	DDAH2 (V152L)	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 2366879	NM_001303007.2(DDAH2):c.464C>T (p.Thr155Met)	DDAH2 (T155M)	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 786084	NM_001303007.2(DDAH2):c.11C>G (p.Pro4Arg)	DDAH2 (P4R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783629	NM_001303007.2(DDAH2):c.397+10G>C	DDAH2	Single nucleotide variant (intron 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