PCDHACT[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 147816	GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1	ARAP3, DELE1 +123 more	Copy number loss	See cases	GUncertain significance
Select item 745976	NM_031857.2(PCDHA9):c.2406C>G (p.Pro802=)	PCDHA10, PCDHA11 +15 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 279578	NM_018900.4(PCDHA1):c.2420G>A (p.Arg807His)	PCDHA3, PCDHA4 +15 more (R543H +10 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1	GUncertain significance
Select item 1123255	NM_018907.4(PCDHA4):c.2499T>A (p.Asp833Glu)	PCDHA1, PCDHA7 +15 more (D571E +10 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 770914	NM_018903.4(PCDHA12):c.2492C>G (p.Pro831Arg)	PCDHA4, PCDHA6 +15 more (P576R +10 more)	Single nucleotide variant (missense variant)	PCDHA9-related disorder +1 more	GBenign/Likely benign
Select item 3044804	NM_018904.3(PCDHA13):c.2543-9_2543-8del	PCDHA1, PCDHA10 +15 more	Deletion (intron variant)	PCDHA13-related disorder	GLikely benign
Select item 708061	NM_018904.3(PCDHA13):c.2613C>T (p.Tyr871=)	PCDHA1, PCDHA10 +15 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710264	NM_018899.6(PCDHAC2):c.2841C>A (p.Ile947=)	PCDHA1, PCDHA3 +15 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3044886	NM_018904.3(PCDHA13):c.2802C>T (p.Thr934=)	PCDHA1, PCDHA10 +15 more	Single nucleotide variant (synonymous variant)	PCDHA13-related disorder	GBenign