PDZK1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57409	GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3	BCL9, LINC00623 +213 more	Copy number gain	See cases	GPathogenic
Select item 153061	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +178 more	Copy number loss	See cases	GPathogenic
Select item 150976	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1	LOC129931352, LOC129931353 +183 more	Copy number loss	See cases	GPathogenic
Select item 148361	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +179 more	Copy number loss	See cases	GPathogenic
Select item 147710	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3	ACP6, ANKRD34A +178 more	Copy number gain	See cases	GPathogenic
Select item 58491	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	LOC126805854, LOC128071544 +179 more	Copy number loss	See cases	GPathogenic
Select item 58089	GRCh38/hg38 1q21.1-21.2(chr1:143965076-149471555)x3	ACP6, ANKRD34A +168 more	Copy number gain	See cases	GPathogenic
Select item 153066	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1	ACP6, ANKRD34A +153 more	Copy number loss	See cases	GLikely pathogenic
Select item 152031	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1	ACP6, ANKRD34A +153 more	Copy number loss	See cases	GPathogenic
Select item 148573	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	LOC126805853, LOC126805854 +153 more	Copy number gain	See cases	GPathogenic
Select item 146808	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 59351	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 59349	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 145369	GRCh38/hg38 1q21.1(chr1:145138148-146401981)x1	ANKRD34A, ANKRD35 +73 more	Copy number loss	See cases	GBenign
Select item 160968	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 160952	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 160925	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 154737	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 154599	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 154444	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 154413	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	LOC101927468, LOC106783502 +143 more	Copy number loss	See cases	GPathogenic
Select item 149420	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x4	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 148485	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	LOC129931329, LOC129931330 +143 more	Copy number gain	See cases	GPathogenic
Select item 59354	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 59337	GRCh38/hg38 1q21.1-21.2(chr1:145215697-148492647)x3	ACP6, ANKRD34A +129 more	Copy number gain	See cases	GPathogenic
Select item 58488	GRCh38/hg38 1q21.1-21.2(chr1:145215697-148534530)x1	ACP6, ANKRD34A +136 more	Copy number loss	See cases	GPathogenic
Select item 57209	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 33116	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	MIR5087, MIR6077 +143 more	Copy number loss	See cases	GPathogenic
Select item 32153	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic/Likely pathogenic
Select item 149419	GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3	ACP6, ANKRD34A +133 more	Copy number gain	See cases	GPathogenic
Select item 144158	GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3	LOC101927468, LOC106783502 +133 more	Copy number gain	See cases	GPathogenic
Select item 59864	GRCh38/hg38 1q21.1(chr1:145335791-146133507)x1	ANKRD34A, ANKRD35 +61 more	Copy number loss	See cases	GPathogenic
Select item 59860	GRCh38/hg38 1q21.1-21.2(chr1:145335791-146944906)x1	ANKRD34A, ANKRD35 +67 more	Copy number loss	See cases	GPathogenic
Select item 59720	GRCh38/hg38 1q21.1(chr1:145335791-146127929)x3	ANKRD34A, ANKRD35 +61 more	Copy number gain	See cases	GUncertain significance
Select item 59719	GRCh38/hg38 1q21.1(chr1:145335791-146146477)x3	ANKRD34A, ANKRD35 +61 more	Copy number gain	See cases	GUncertain significance
Select item 146027	GRCh38/hg38 1q21.1-21.2(chr1:145338382-148599763)x3	ACP6, ANKRD34A +129 more	Copy number gain	See cases	GPathogenic
Select item 545143	NC_000001.11:g.(?_145430995)_(148427734_?)del	RNVU1-6, RNVU1-7 +118 more	Deletion	Schizophrenia	GPathogenic
Select item 545142	NC_000001.11:g.(?_145430995)_(148257619_?)del	LOC129931347, LOC129931348 +104 more	Deletion	Schizophrenia	GPathogenic
Select item 146422	GRCh38/hg38 1q21.1(chr1:145439580-147036021)x3	ANKRD34A, ANKRD35 +66 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 35076	GRCh38/hg38 1q21.1-21.2(chr1:145439580-148359881)x1	ACP6, ANKRD34A +115 more	Copy number loss	See cases	GPathogenic
Select item 545144	NC_000001.11:g.(?_145580669)_(149095000_?)del	ACP6, ANKRD34A +130 more	Deletion	Schizophrenia	GPathogenic
Select item 545148	Single allele	ACP6, ANKRD34A +127 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545147	Single allele	LOC129931348, LOC129931349 +52 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545146	NC_000001.11:g.(?_145601945)_(146048346_?)del	ANKRD34A, ANKRD35 +52 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 545145	Single allele	ANKRD34A, ANKRD35 +52 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 692221	NC_000001.11:g.145601946_148597425del	GPR89B, LOC129931326 +123 more	Deletion	Radial aplasia-thrombocytopenia syndrome	GLikely pathogenic
Select item 160936	GRCh38/hg38 1q21.1(chr1:145601946-146009630)x3	ANKRD34A, ANKRD35 +43 more	Copy number gain	See cases	GUncertain significance
Select item 155369	GRCh38/hg38 1q21.1(chr1:145601946-145809957)x1	CD160, GPR89A +6 more	Copy number loss	See cases	GUncertain significance
Select item 155155	GRCh38/hg38 1q21.1(chr1:145601946-146065803)x1	ANKRD34A, ANKRD35 +55 more	Copy number loss	See cases	GLikely pathogenic
Select item 153424	GRCh38/hg38 1q21.1(chr1:145601946-146052881)x1	ANKRD34A, ANKRD35 +54 more	Copy number loss	See cases	GLikely benign
Select item 152686	GRCh38/hg38 1q21.1(chr1:145601946-145814985)x3	CD160, GPR89A +6 more	Copy number gain	See cases	GBenign
Select item 152673	GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1	ACP6, ANKRD34A +123 more	Copy number loss	See cases	GPathogenic
Select item 150730	GRCh38/hg38 1q21.1(chr1:145601946-146046631)x1	ANKRD34A, ANKRD35 +52 more	Copy number loss	See cases	GPathogenic
Select item 148600	GRCh38/hg38 1q21.1(chr1:145601946-146019823)x1	ANKRD34A, ANKRD35 +44 more	Copy number loss	See cases	GPathogenic
Select item 146009	GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1	ACP6, ANKRD34A +123 more	Copy number loss	See cases	GPathogenic
Select item 59869	GRCh38/hg38 1q21.1(chr1:145601946-146046645)x1	ANKRD34A, ANKRD35 +52 more	Copy number loss	See cases	GPathogenic
Select item 59722	GRCh38/hg38 1q21.1(chr1:145601946-145807381)x3	CD160, GPR89A +6 more	Copy number gain	See cases	GUncertain significance
Select item 59353	GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x3	ANKRD34A, ANKRD35 +61 more	Copy number gain	See cases	GPathogenic
Select item 59352	GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x3	ANKRD34A, ANKRD35 +61 more	Copy number gain	See cases	GPathogenic
Select item 58494	GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x1	ANKRD34A, ANKRD35 +61 more	Copy number loss	See cases	GPathogenic
Select item 57518	GRCh38/hg38 1q21.1(chr1:145601946-145804778)x1	CD160, GPR89A +6 more	Copy number loss	See cases	GUncertain significance
Select item 57517	GRCh38/hg38 1q21.1(chr1:145601946-145807381)x1	CD160, GPR89A +6 more	Copy number loss	See cases	GUncertain significance
Select item 34710	GRCh38/hg38 1q21.1(chr1:145601946-146009630)x3	ANKRD34A, ANKRD35 +43 more	Copy number gain	See cases	GUncertain significance
Select item 151359	GRCh38/hg38 1q21.1(chr1:145603343-145808847)x3	CD160, GPR89A +6 more	Copy number gain	See cases	GBenign
Select item 155534	GRCh38/hg38 1q21.1(chr1:145605589-146057729)x1	ANKRD34A, ANKRD35 +54 more	Copy number loss	See cases	GUncertain significance
Select item 151743	GRCh38/hg38 1q21.1(chr1:145605589-145809476)x1	CD160, GPR89A +6 more	Copy number loss	See cases	GUncertain significance
Select item 59870	GRCh38/hg38 1q21.1(chr1:145609216-146046645)x1	ANKRD34A, ANKRD35 +50 more	Copy number loss	See cases	GPathogenic
Select item 144328	GRCh38/hg38 1q21.1(chr1:145619023-145779087)x1	CD160, GPR89A +3 more	Copy number loss	See cases	GUncertain significance
Select item 59872	GRCh38/hg38 1q21.1(chr1:145625047-146021303)x1	ANKRD34A, ANKRD35 +42 more	Copy number loss	See cases	GPathogenic
Select item 2499625	GRCh38/hg38 1q21.1(chr1:145635432-146019857)	ANKRD34A, ANKRD35 +42 more	Copy number loss	See cases	GUncertain significance
Select item 144668	GRCh38/hg38 1q21.1(chr1:145635432-146019857)x3	ANKRD34A, ANKRD35 +42 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 160833	GRCh38/hg38 1q21.1(chr1:145635445-146009630)x1	ANKRD34A, ANKRD35 +41 more	Copy number loss	See cases	GPathogenic
Select item 59871	GRCh38/hg38 1q21.1(chr1:145635445-146046645)x1	ANKRD34A, ANKRD35 +50 more	Copy number loss	See cases	GPathogenic
Select item 59691	GRCh38/hg38 1q21.1(chr1:145635445-145968427)x3	ANKRD34A, ANKRD35 +35 more	Copy number gain	See cases	GUncertain significance
Select item 57296	GRCh38/hg38 1q21.1(chr1:145635445-146009630)x3	ANKRD34A, ANKRD35 +41 more	Copy number gain	See cases	GBenign
Select item 32650	GRCh38/hg38 1q21.1(chr1:145635445-146009630)x1	ANKRD34A, ANKRD35 +41 more	Copy number loss	See cases	GPathogenic
Select item 154041	GRCh38/hg38 1q21.1(chr1:145642988-146047980)x1	ANKRD34A, ANKRD35 +50 more	Copy number loss	See cases	GUncertain significance
Select item 146687	GRCh38/hg38 1q21.1(chr1:145646117-146019823)x1	TXNIP, ANKRD34A +42 more	Copy number loss	See cases	GLikely pathogenic
Select item 3305671	NM_001201325.2(PDZK1):c.1432C>T (p.Leu478Phe)	PDZK1 (L271F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305670	NM_001201325.2(PDZK1):c.1418C>G (p.Ser473Cys)	PDZK1 (S266C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244300	NM_001201325.2(PDZK1):c.1214A>C (p.Glu405Ala)	PDZK1 (E198A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271075	NM_001201325.2(PDZK1):c.1142T>C (p.Leu381Pro)	PDZK1 (L174P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352975	NM_001201325.2(PDZK1):c.994C>T (p.His332Tyr)	PDZK1 (H332Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356093	NM_001201325.2(PDZK1):c.869C>T (p.Ala290Val)	PDZK1 (A179V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596339	NM_001201325.2(PDZK1):c.587T>C (p.Val196Ala)	PDZK1 (V196A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2639114	NM_001201325.2(PDZK1):c.567G>A (p.Glu189=)	PDZK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3305672	NM_001201325.2(PDZK1):c.542T>C (p.Ile181Thr)	PDZK1 (I181T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769244	NM_001201325.2(PDZK1):c.512G>A (p.Arg171Lys)	PDZK1 (R171K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2615574	NM_001201325.2(PDZK1):c.415G>A (p.Val139Met)	PDZK1 (V139M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542704	NM_001201325.2(PDZK1):c.401G>A (p.Arg134Gln)	PDZK1 (R134Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236123	NM_001201325.2(PDZK1):c.298G>A (p.Val100Met)	PDZK1 (V100M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472719	NM_001201325.2(PDZK1):c.198A>C (p.Glu66Asp)	PDZK1 (E66D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235941	NM_001201325.2(PDZK1):c.157G>T (p.Asp53Tyr)	PDZK1 (D53Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262183	NM_001201325.2(PDZK1):c.140C>T (p.Ala47Val)	PDZK1 (A47V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391743	NM_001201325.2(PDZK1):c.91G>A (p.Glu31Lys)	PDZK1 (E31K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 64506	NM_001201325.2(PDZK1):c.62G>A (p.Gly21Asp)	PDZK1 (G21D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 59867	GRCh38/hg38 1q21.1(chr1:145688094-146046645)x1	ANKRD34A, ANKRD35 +49 more	Copy number loss	See cases	GPathogenic
Select item 59372	GRCh38/hg38 1q21.1(chr1:145688094-145788062)x1	CD160, LOC126805849 +2 more	Copy number loss	See cases	GUncertain significance
Select item 146028	GRCh38/hg38 1q21.1(chr1:145688153-146166380)x3	ANKRD34A, ANKRD35 +53 more	Copy number gain	See cases	GPathogenic
Select item 146163	GRCh38/hg38 1q21.1(chr1:145691625-146082575)x3	ANKRD34A, ANKRD35 +52 more	Copy number gain	See cases	GLikely pathogenic

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