PI15[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	ARFGEF1, ARFGEF1-DT +245 more	Copy number gain	See cases	GPathogenic
Select item 57417	GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1	CASC9, CHMP4C +169 more	Copy number loss	See cases	GPathogenic
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000646, LOC130000647 +191 more	Copy number loss	See cases	GPathogenic
Select item 3212507	NM_015886.5(PI15):c.67G>T (p.Val23Phe)	PI15 (V23F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603602	NM_015886.5(PI15):c.67G>A (p.Val23Ile)	PI15 (V23I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2288380	NM_015886.5(PI15):c.172C>T (p.Arg58Trp)	PI15 (R58W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708722	NM_015886.5(PI15):c.249A>G (p.Pro83=)	PI15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3212504	NM_015886.5(PI15):c.383G>A (p.Arg128His)	PI15 (R128H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259540	NM_015886.5(PI15):c.404T>A (p.Ile135Asn)	PI15 (I135N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314624	NM_015886.5(PI15):c.436G>T (p.Val146Leu)	PI15 (V146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259541	NM_015886.5(PI15):c.472A>C (p.Asn158His)	PI15 (N158H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212505	NM_015886.5(PI15):c.503C>A (p.Pro168His)	PI15 (P168H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364553	NM_015886.5(PI15):c.521C>T (p.Thr174Met)	PI15 (T174M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212506	NM_015886.5(PI15):c.544A>G (p.Asn182Asp)	PI15 (N182D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776358	NM_015886.5(PI15):c.555A>G (p.Gly185=)	PI15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2270169	NM_015886.5(PI15):c.581T>C (p.Met194Thr)	PI15 (M194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306342	NM_015886.5(PI15):c.605G>A (p.Arg202Gln)	PI15 (R202Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306343	NM_015886.5(PI15):c.682C>A (p.Pro228Thr)	PI15 (P228T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478697	NM_015886.5(PI15):c.749C>A (p.Thr250Lys)	PI15 (T250K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527443	GRCh37/hg19 8q21.11-21.13(chr8:75338205-80221568)	CRISPLD1, HNF4G +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527442	GRCh37/hg19 8q21.11-21.13(chr8:75197438-81685526)	CRISPLD1, GDAP1 +14 more	Copy number loss	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 563542	GRCh37/hg19 8q21.11-21.13(chr8:74942333-80413867)x1	IL7, ZFHX4 +8 more	Copy number loss	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 253364	GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3	RPL7, XKR9 +34 more	Copy number gain	See cases	GLikely pathogenic

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Items: 44