PPT2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 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 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 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	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 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	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)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 26