9326[HGNC] - ClinVar

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Items: 29

	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 3217974	NM_005155.7(PPT2):c.40G>A (p.Val14Ile)	PPT2, PPT2-EGFL8 (V14I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3309605	NM_005155.7(PPT2):c.92C>T (p.Pro31Leu)	PPT2, PPT2-EGFL8 (P31L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2548053	NM_005155.7(PPT2):c.149A>G (p.Tyr50Cys)	PPT2, PPT2-EGFL8 (Y56C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3217972	NM_005155.7(PPT2):c.164T>A (p.Leu55Gln)	PPT2, PPT2-EGFL8 (L61Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2529284	NM_005155.7(PPT2):c.184A>T (p.Thr62Ser)	PPT2, PPT2-EGFL8 (T68S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2412205	NM_005155.7(PPT2):c.199G>C (p.Val67Leu)	PPT2, PPT2-EGFL8 (V73L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2350320	NM_005155.7(PPT2):c.295G>A (p.Ala99Thr)	PPT2, PPT2-EGFL8 (A105T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2318184	NM_005155.7(PPT2):c.305C>T (p.Pro102Leu)	PPT2, PPT2-EGFL8 (P102L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3217973	NM_005155.7(PPT2):c.334C>G (p.Gln112Glu)	PPT2, PPT2-EGFL8 (Q112E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2556098	NM_005155.7(PPT2):c.343C>A (p.Leu115Ile)	PPT2, PPT2-EGFL8 (L115I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2237017	NM_005155.7(PPT2):c.472C>T (p.Arg158Trp)	PPT2, PPT2-EGFL8 (R158W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3309604	NM_005155.7(PPT2):c.553G>A (p.Asp185Asn)	PPT2, PPT2-EGFL8 (D185N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2299151	NM_005155.7(PPT2):c.646C>T (p.Arg216Cys)	PPT2, PPT2-EGFL8 (R216C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2277738	NM_005155.7(PPT2):c.703C>G (p.Gln235Glu)	PPT2, PPT2-EGFL8 (Q241E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 218666	NM_005155.7(PPT2):c.766G>A (p.Val256Ile)	PPT2, PPT2-EGFL8 (V262I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2559502	NM_005155.7(PPT2):c.776G>C (p.Arg259Pro)	PPT2, PPT2-EGFL8 (R259P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546628	NM_005155.7(PPT2):c.832A>G (p.Met278Val)	PPT2, PPT2-EGFL8 (M278V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309608	NM_005155.7(PPT2):c.868C>G (p.Arg290Gly)	PPT2, PPT2-EGFL8 (R290G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217975	NM_005155.7(PPT2):c.890T>C (p.Ile297Thr)	PPT2, PPT2-EGFL8 (I297T +1 more)	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 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: 29