"GeneDx"[submitter] AND "PAX1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 423294	NM_001257096.2(PAX1):c.115C>T (p.Arg39Cys)	PAX1 (R39C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1311966	NM_001257096.2(PAX1):c.497G>C (p.Gly166Ala)	PAX1 (G166A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1168083	NM_001257096.2(PAX1):c.555G>A (p.Lys185=)	PAX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1310507	NM_001257096.2(PAX1):c.631G>A (p.Val211Met)	PAX1 (V211M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806061	NM_001257096.2(PAX1):c.967T>C (p.Trp323Arg)	PAX1 (W323R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1309932	NM_001257096.2(PAX1):c.1109_1113delinsCCAACCA (p.Tyr370fs)	PAX1 (Y370fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 3363586	NM_001257096.2(PAX1):c.1187C>A (p.Ala396Glu)	PAX1 (A396E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430416	NM_001257096.2(PAX1):c.*152A>C	PAX1 (S506R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic