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

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 58253	GRCh38/hg38 13q13.2-13.3(chr13:33754469-36942137)x3	CCDC169, CCDC169-SOHLH2 +53 more	Copy number gain	See cases	GUncertain significance
Select item 57640	GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1	ALG5, CCDC169 +146 more	Copy number loss	See cases	GPathogenic
Select item 566425	NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter)	LOC130009573, RFXAP (Q43*)	Single nucleotide variant (nonsense)	MHC class II deficiency +1 more	GPathogenic/Likely pathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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