"GeneDx"[submitter] AND "LOC126862662"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 1234611	NM_001366385.1(CARD14):c.2398+298del	CARD14, LOC126862662 +1 more	Deletion (intron variant)	not provided	GBenign
Select item 1201815	NM_001366385.1(CARD14):c.2399-47G>A	SGSH, CARD14 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 422207	NM_001366385.1(CARD14):c.2422G>A (p.Glu808Lys)	SGSH, CARD14 +1 more (E808K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 402487	NM_001366385.1(CARD14):c.2458C>T (p.Arg820Trp)	CARD14, LOC126862662 +1 more (R820W)	Single nucleotide variant (missense variant +1 more)	Psoriasis 2 +4 more	GConflicting classifications of pathogenicity
Select item 1167400	NM_001366385.1(CARD14):c.2481C>T (p.Pro827=)	CARD14, LOC126862662 +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 1216519	NM_001366385.1(CARD14):c.2569+151A>G	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 458097	NM_001366385.1(CARD14):c.2648G>A (p.Arg883His)	CARD14, LOC126862662 +1 more (R883H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 1293838	NM_001366385.1(CARD14):c.2691+115C>T	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign