ClinVar for Gene (Select 55529) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306691	NM_018710.3(PIP4P2):c.271C>A (p.Pro91Thr)	PIP4P2 (P91T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213164	NM_018710.3(PIP4P2):c.739A>G (p.Ile247Val)	PIP4P2 (I247V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213163	NM_018710.3(PIP4P2):c.662G>A (p.Arg221Gln)	PIP4P2 (R221Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213162	NM_018710.3(PIP4P2):c.613A>G (p.Ile205Val)	PIP4P2 (I205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213161	NM_018710.3(PIP4P2):c.610T>A (p.Phe204Ile)	PIP4P2 (F204I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213160	NM_018710.3(PIP4P2):c.604T>C (p.Cys202Arg)	PIP4P2 (C202R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213159	NM_018710.3(PIP4P2):c.569G>C (p.Arg190Thr)	PIP4P2 (R190T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213158	NM_018710.3(PIP4P2):c.566G>A (p.Arg189Gln)	PIP4P2 (R189Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213157	NM_018710.3(PIP4P2):c.43G>A (p.Ala15Thr)	PIP4P2 (A15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213156	NM_018710.3(PIP4P2):c.370A>G (p.Ile124Val)	PIP4P2 (I124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213155	NM_018710.3(PIP4P2):c.346T>A (p.Cys116Ser)	PIP4P2 (C116S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213154	NM_018710.3(PIP4P2):c.335G>A (p.Arg112Gln)	PIP4P2 (R112Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213153	NM_018710.3(PIP4P2):c.298C>G (p.Pro100Ala)	PIP4P2 (P100A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213152	NM_018710.3(PIP4P2):c.143C>T (p.Pro48Leu)	PIP4P2 (P48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2685316	GRCh37/hg19 8q21.3-22.1(chr8:86955187-94955826)x1	ATP6V0D2, CALB1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2597804	NM_018710.3(PIP4P2):c.656G>A (p.Arg219Gln)	PIP4P2 (R219Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545336	NM_018710.3(PIP4P2):c.326A>G (p.Asp109Gly)	PIP4P2 (D109G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506527	GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274)	LINC02906, LRRC69 +36 more	Copy number loss	not provided	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	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 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 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 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 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 563522	GRCh37/hg19 8q21.3-22.1(chr8:91914994-93365750)x1	RUNX1T1, OTUD6B +4 more	Copy number loss	not provided	GUncertain significance
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	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 441616	GRCh37/hg19 8q21.3(chr8:91080027-92129950)x3	CALB1, LRRC69 +4 more	Copy number gain	See cases	GUncertain significance
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 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 155616	GRCh38/hg38 8q21.3(chr8:90543310-91144982)x1	C8orf88, LINC01030 +16 more	Copy number loss	See cases	GLikely benign
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 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 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 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 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 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 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 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 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 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 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 60381	GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1	C8orf88, CDH17 +72 more	Copy number loss	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	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

ClinVar

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Links from Gene

Items: 54