PDZK1IP1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 150531	GRCh38/hg38 1p33(chr1:46969963-47200507)x3	CYP4A22, CYP4A22-AS1 +7 more	Copy number gain	See cases	GLikely benign
Select item 3211206	NM_005764.4(PDZK1IP1):c.329G>A (p.Arg110His)	PDZK1IP1 (R110H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211205	NM_005764.4(PDZK1IP1):c.283C>T (p.His95Tyr)	PDZK1IP1 (H95Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364744	NM_005764.4(PDZK1IP1):c.221G>A (p.Gly74Glu)	PDZK1IP1 (G74E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344099	NM_005764.4(PDZK1IP1):c.205G>A (p.Gly69Arg)	PDZK1IP1 (G69R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211204	NM_005764.4(PDZK1IP1):c.175C>A (p.Pro59Thr)	PDZK1IP1 (P59T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211203	NM_005764.4(PDZK1IP1):c.107C>T (p.Ala36Val)	PDZK1IP1 (A36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515659	NM_005764.4(PDZK1IP1):c.16C>T (p.Leu6Phe)	PDZK1IP1 (L6F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 814074	GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1	TXNDC12, AGBL4 +28 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic