"GeneDx"[submitter] AND "LOC130003148"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	LOC130003068, LOC130003069 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	ABCA2, AGPAT2 +371 more	Copy number loss	See cases	GPathogenic
Select item 59151	GRCh38/hg38 9q34.3(chr9:137215877-137830604)x1	ARRDC1, ARRDC1-AS1 +92 more	Copy number loss	See cases	GPathogenic
Select item 59141	GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1	LOC130003144, LOC130003145 +101 more	Copy number loss	See cases	GPathogenic
Select item 59153	GRCh38/hg38 9q34.3(chr9:137514943-138121473)x1	ARRDC1, ARRDC1-AS1 +46 more	Copy number loss	See cases	GPathogenic
Select item 59155	GRCh38/hg38 9q34.3(chr9:137598355-138091769)x1	LOC130003141, LOC130003142 +33 more	Copy number loss	See cases	GPathogenic
Select item 59156	GRCh38/hg38 9q34.3(chr9:137620211-137958459)x1	CACNA1B, CACNA1B-AS1 +24 more	Copy number loss	See cases	GPathogenic
Select item 839052	NM_024757.5(EHMT1):c.1567C>T (p.Arg523Trp)	EHMT1, LOC130003148 (R492W +2 more)	Single nucleotide variant (missense variant)	Kleefstra syndrome 1 +1 more	GLikely benign
Select item 523809	NM_024757.5(EHMT1):c.1588C>T (p.Arg530Ter)	EHMT1, LOC130003148 (R530* +2 more)	Single nucleotide variant (nonsense)	Kleefstra syndrome 1 +1 more	GPathogenic
Select item 503816	NM_024757.5(EHMT1):c.1602dup (p.Leu535fs)	EHMT1, LOC130003148 (L535fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2135984	NM_024757.5(EHMT1):c.1603C>G (p.Leu535Val)	EHMT1, LOC130003148 (L535V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302397	NM_024757.5(EHMT1):c.1617G>T (p.Gln539His)	EHMT1, LOC130003148 (Q508H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 435047	NM_024757.5(EHMT1):c.1636G>A (p.Val546Met)	EHMT1, LOC130003148 (V546M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign