MBD3L2[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 147937	GRCh38/hg38 19p13.3-13.2(chr19:6870105-7103344)x3	ADGRE1, LOC129391044 +12 more	Copy number gain	See cases	GBenign
Select item 149919	GRCh38/hg38 19p13.2(chr19:6916104-7103194)x3	ADGRE1, LOC129391044 +11 more	Copy number gain	See cases	GLikely benign
Select item 152963	GRCh38/hg38 19p13.2(chr19:6916228-7103344)x3	ADGRE1, LOC129391044 +11 more	Copy number gain	See cases	GBenign
Select item 151462	GRCh38/hg38 19p13.2(chr19:6916228-7103285)x3	ADGRE1, LOC129391044 +11 more	Copy number gain	See cases	GBenign
Select item 150169	GRCh38/hg38 19p13.2(chr19:6952998-7090780)x3	LOC129391044, LOC129391045 +8 more	Copy number gain	See cases	GLikely benign
Select item 2649148	NM_144614.4(MBD3L2):c.387A>G (p.Arg129=)	MBD3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic