"Invitae"[submitter] AND "PCDHA@"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 730554	NM_018900.4(PCDHA1):c.357G>A (p.Val119=)	PCDHA1, PCDHA@	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770358	NM_018906.3(PCDHA3):c.2037G>T (p.Ser679=)	PCDHA1, PCDHA2 +2 more	Single nucleotide variant (synonymous variant +1 more)	PCDHA3-related condition +1 more	GBenign
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 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)	PCDHA1, PCDHA10 +15 more (P576R +10 more)	Single nucleotide variant (missense variant)	PCDHA9-related condition +1 more	GBenign/Likely 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 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	HSPA9, IGIP +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, CCDC69 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic