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

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 1271112	NM_005879.3(TRAIP):c.*144G>A	TRAIP	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1098863	NM_005879.3(TRAIP):c.1362A>C (p.Thr454=)	TRAIP	Single nucleotide variant (synonymous variant)	Seckel syndrome 9 +1 more	GBenign
Select item 1295696	NM_005879.3(TRAIP):c.1037+191T>G	TRAIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250089	NM_005879.3(TRAIP):c.885-130C>T	TRAIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180880	NM_005879.3(TRAIP):c.795+132C>A	TRAIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260161	NM_005879.3(TRAIP):c.706-272A>G	TRAIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286239	NM_005879.3(TRAIP):c.705+154G>C	TRAIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235611	NM_005879.3(TRAIP):c.705+23T>C	TRAIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271663	NM_005879.3(TRAIP):c.618-85A>G	TRAIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262512	NM_005879.3(TRAIP):c.618-147C>T	TRAIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283042	NM_005879.3(TRAIP):c.617+57G>A	TRAIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246041	NM_005879.3(TRAIP):c.408+100T>A	TRAIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232561	NM_005879.3(TRAIP):c.240+81CTCTT[4]	TRAIP	Microsatellite (intron variant)	not provided	GBenign
Select item 1295661	NM_005879.3(TRAIP):c.240+45G>A	TRAIP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1230339	NC_000003.12:g.49856597T>C	TRAIP	Single nucleotide variant	not provided	GBenign
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic