"Baylor Genetics"[submitter] AND "MKRN3"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030007	NM_005664.4(MKRN3):c.103T>G (p.Cys35Gly)	MKRN3 (C35G)	Single nucleotide variant (missense variant)	Precocious puberty, central, 2	GUncertain significance
Select item 625833	GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182)	ATP10A, CYFIP1 +26 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625832	GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182)	ATP10A, CYFIP1 +26 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 625746	GRCh37/hg19 15q11.2-13.1(chr15:23810397-28525505)	ATP10A, GABRA5 +21 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625745	GRCh37/hg19 15q11.2-13.1(chr15:23810184-29213896)	APBA2, ATP10A +23 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625718	GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505)	ATP10A, GABRA5 +21 more	Copy number loss	Prader-Willi syndrome	GPathogenic
Select item 625717	GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182)	ATP10A, GABRA5 +22 more	Copy number loss	Angelman syndrome +1 more	GPathogenic
Select item 625716	GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)	ATP10A, GABRA5 +22 more	Copy number loss	Angelman syndrome +1 more	GPathogenic
Select item 625715	GRCh37/hg19 15q11.2-13.1(chr15:22770994-28517432)	ATP10A, CYFIP1 +26 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625714	GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689)	APBA2, ARHGAP11A +47 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625713	GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198)	NIPA1, NIPA2 +27 more	Copy number loss	Prader-Willi syndrome +1 more	GPathogenic
Select item 625712	GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457)	APBA2, ARHGAP11B +44 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625711	GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141)	APBA2, ARHGAP11A +50 more	Copy number loss	Prader-Willi syndrome +1 more	GPathogenic
Select item 625710	GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310)	ATP10A, CYFIP1 +32 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 625709	GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265)	IPW, GABRG3 +37 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 209214	NC_000015.9:g.(?_23730704)_(28530182_?)del	PWRN2, OCA2 +21 more	Deletion	Angelman syndrome	GPathogenic