"GeneDx"[submitter] AND "TRAPPC2L"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 59539	GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1	ACSF3, ANKRD11 +113 more	Copy number loss	See cases	GPathogenic
Select item 1289536	NM_000512.5(GALNS):c.120+46A>C	GALNS, LOC130059762 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 885856	NM_000512.5(GALNS):c.-32C>T	GALNS, LOC130059762 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 321214	NM_000512.5(GALNS):c.-68C>T	GALNS, LOC130059762 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 369142	NM_000512.4(GALNS):c.-92T>C	GALNS, LOC130059762 +1 more	Single nucleotide variant (genic upstream transcript variant)	Mucopolysaccharidosis, MPS-IV-A +1 more	GBenign/Likely benign
Select item 1276057	NC_000016.10:g.88857069T>C	GALNS, LOC130059762 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1221432	NC_000016.10:g.88857261T>C	GALNS, TRAPPC2L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280761	NC_000016.10:g.88857286C>T	GALNS, TRAPPC2L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 588478	NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro)	ANKRD11, TRAPPC2L (S1878P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 585399	NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn)	ANKRD11, TRAPPC2L (D46N)	Single nucleotide variant (missense variant +1 more)	KBG syndrome +3 more	GBenign/Likely benign
Select item 253986	GRCh37/hg19 16q24.2-24.3(chr16:88601532-89713753)x3	ACSF3, ANKRD11 +24 more	Copy number gain	See cases	GUncertain significance
Select item 253753	GRCh37/hg19 16q24.2-24.3(chr16:87687199-89304429)x3	ACSF3, APRT +23 more	Copy number gain	See cases	GUncertain significance
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic