13944[HGNC] - ClinVar

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Items: 32

	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 2461652	NM_030652.4(EGFL8):c.107G>T (p.Gly36Val)	EGFL8, PPT2-EGFL8 (G36V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3274731	NM_030652.4(EGFL8):c.122A>G (p.Gln41Arg)	EGFL8, PPT2-EGFL8 (Q41R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2342980	NM_030652.4(EGFL8):c.204G>T (p.Arg68Ser)	EGFL8, PPT2-EGFL8 (R68S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2656448	NM_030652.4(EGFL8):c.222C>G (p.Tyr74Ter)	EGFL8, PPT2-EGFL8 (Y74*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3274730	NM_030652.4(EGFL8):c.236G>A (p.Arg79His)	EGFL8, PPT2-EGFL8 (R79H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2339092	NM_030652.4(EGFL8):c.319G>A (p.Ala107Thr)	PPT2-EGFL8, EGFL8 (A107T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3087640	NM_030652.4(EGFL8):c.338T>A (p.Ile113Asn)	EGFL8, PPT2-EGFL8 (I113N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2282727	NM_030652.4(EGFL8):c.373G>A (p.Val125Ile)	EGFL8, PPT2-EGFL8 (V125I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3087641	NM_030652.4(EGFL8):c.403G>A (p.Gly135Ser)	EGFL8, PPT2-EGFL8 (G135S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3274732	NM_030652.4(EGFL8):c.433G>A (p.Val145Met)	EGFL8, PPT2-EGFL8 (V145M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2357454	NM_030652.4(EGFL8):c.437A>G (p.Asp146Gly)	EGFL8, PPT2-EGFL8 (D146G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2217691	NM_030652.4(EGFL8):c.443G>A (p.Cys148Tyr)	EGFL8, PPT2-EGFL8 (C148Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2210498	NM_030652.4(EGFL8):c.447G>T (p.Arg149Ser)	EGFL8, PPT2-EGFL8 (R149S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2543662	NM_030652.4(EGFL8):c.473A>G (p.His158Arg)	EGFL8, PPT2-EGFL8 (H158R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2471215	NM_030652.4(EGFL8):c.505G>A (p.Gly169Ser)	EGFL8, PPT2-EGFL8 (G169S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2550929	NM_030652.4(EGFL8):c.588A>G (p.Ile196Met)	EGFL8, PPT2-EGFL8 (I196M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2289177	NM_030652.4(EGFL8):c.623A>G (p.Glu208Gly)	EGFL8, PPT2-EGFL8 (E208G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3087643	NM_030652.4(EGFL8):c.625C>T (p.Arg209Cys)	EGFL8, PPT2-EGFL8 (R209C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2322138	NM_030652.4(EGFL8):c.626G>A (p.Arg209His)	EGFL8, PPT2-EGFL8 (R209H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2485081	NM_030652.4(EGFL8):c.724G>C (p.Val242Leu)	EGFL8, PPT2-EGFL8 (V242L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3087644	NM_030652.4(EGFL8):c.781C>G (p.Arg261Gly)	EGFL8, PPT2-EGFL8 (R261G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3087645	NM_030652.4(EGFL8):c.782G>A (p.Arg261Gln)	EGFL8, PPT2-EGFL8 (R261Q)	Single nucleotide variant (non-coding transcript variant +1 more)	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 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	AGER, AGPAT1 +13 more	Copy number gain	not provided	GUncertain significance
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 253700	GRCh37/hg19 6p21.33-21.32(chr6:32052479-32184403)x3	AGER, AGPAT1 +10 more	Copy number gain	See cases	GUncertain significance

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Items: 32