ClinVar for Gene (Select 8396) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684848	GRCh37/hg19 17q12(chr17:36836115-37099066)x3	CISD3, CWC25 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2621953	NM_003559.5(PIP4K2B):c.803T>C (p.Val268Ala)	PIP4K2B (V268A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559497	NM_003559.5(PIP4K2B):c.928G>C (p.Asp310His)	PIP4K2B (D310H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524283	NM_003559.5(PIP4K2B):c.629C>T (p.Thr210Ile)	PIP4K2B (T210I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425689	NC_000017.10:g.(?_36891476)_(37009963_?)dup	SPMAP1, RPL23 +5 more	Duplication	not provided	GUncertain significance
Select item 2360240	NM_003559.5(PIP4K2B):c.235G>C (p.Val79Leu)	PIP4K2B (V79L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336184	NM_003559.5(PIP4K2B):c.1214A>G (p.Lys405Arg)	PIP4K2B (K405R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330166	NM_003559.5(PIP4K2B):c.240C>A (p.Asp80Glu)	PIP4K2B (D80E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254698	NM_003559.5(PIP4K2B):c.428A>C (p.Tyr143Ser)	PIP4K2B (Y143S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244778	NM_003559.5(PIP4K2B):c.463G>A (p.Glu155Lys)	PIP4K2B (E155K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237908	NM_003559.5(PIP4K2B):c.760G>C (p.Glu254Gln)	PIP4K2B (E254Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222268	NM_003559.5(PIP4K2B):c.956C>T (p.Ser319Phe)	PIP4K2B (S319F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206209	NM_003559.5(PIP4K2B):c.1027G>A (p.Asp343Asn)	PIP4K2B (D343N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 815933	GRCh37/hg19 17q12(chr17:36710984-37295662)x3	C17orf98, CISD3 +11 more	Copy number gain	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic