PIP4K2A[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 3213128	NM_005028.5(PIP4K2A):c.1187G>A (p.Arg396His)	PIP4K2A (R396H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779110	NM_005028.5(PIP4K2A):c.1173A>G (p.Glu391=)	PIP4K2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2250469	NM_005028.5(PIP4K2A):c.1167C>A (p.Asn389Lys)	PIP4K2A (N389K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213127	NM_005028.5(PIP4K2A):c.1009G>A (p.Asp337Asn)	PIP4K2A (D278N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348301	NM_005028.5(PIP4K2A):c.1001C>G (p.Pro334Arg)	PIP4K2A (P334R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720678	NM_005028.5(PIP4K2A):c.979C>A (p.Leu327Met)	PIP4K2A (L268M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2265260	NM_005028.5(PIP4K2A):c.926C>A (p.Pro309Gln)	PIP4K2A (P309Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322869	NM_005028.5(PIP4K2A):c.917G>C (p.Gly306Ala)	PIP4K2A (G306A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779111	NM_005028.5(PIP4K2A):c.912C>T (p.Ser304=)	PIP4K2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2214002	NM_005028.5(PIP4K2A):c.907G>A (p.Glu303Lys)	PIP4K2A (E303K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487307	NM_005028.5(PIP4K2A):c.890A>G (p.Asp297Gly)	PIP4K2A (D238G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306679	NM_005028.5(PIP4K2A):c.852G>T (p.Glu284Asp)	PIP4K2A (E225D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611698	NM_005028.5(PIP4K2A):c.847G>C (p.Val283Leu)	PIP4K2A (V224L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1291277	NM_005028.5(PIP4K2A):c.792+505C>T	PIP4K2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2277275	NM_005028.5(PIP4K2A):c.607C>T (p.Arg203Cys)	PIP4K2A (R144C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235998	NM_005028.5(PIP4K2A):c.472A>G (p.Ile158Val)	PIP4K2A (I158V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327334	NM_005028.5(PIP4K2A):c.376T>A (p.Ser126Thr)	PIP4K2A (S126T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222132	NM_005028.5(PIP4K2A):c.361C>T (p.Pro121Ser)	PIP4K2A (P121S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707854	NM_005028.5(PIP4K2A):c.339+10G>A	PIP4K2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3213129	NM_005028.5(PIP4K2A):c.268T>G (p.Phe90Val)	PIP4K2A (F90V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326028	NM_005028.5(PIP4K2A):c.186G>A (p.Met62Ile)	PIP4K2A (M3I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306920	NM_005028.5(PIP4K2A):c.142T>G (p.Ser48Ala)	PIP4K2A (S48A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385222	NM_005028.5(PIP4K2A):c.128G>T (p.Trp43Leu)	PIP4K2A (W43L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213132	NM_005028.5(PIP4K2A):c.64C>A (p.His22Asn)	PIP4K2A (H22N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401120	NM_005028.5(PIP4K2A):c.31G>C (p.Val11Leu)	PIP4K2A (V11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213130	NM_005028.5(PIP4K2A):c.26C>T (p.Ser9Phe)	PIP4K2A (S9F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521748	NM_005028.5(PIP4K2A):c.13G>A (p.Gly5Ser)	PIP4K2A (G5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1808767	GRCh37/hg19 10p12.31-12.2(chr10:22208767-23220277)x3	ARMC3, BMI1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442597	GRCh37/hg19 10p12.31-12.2(chr10:21881989-23129991)x3	BMI1, COMMD3 +6 more	Copy number gain	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 40