ClinVar for MedGen (Select 390767) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250355	NC_000015.10:g.(?_22786657)_(28299516_?)dup	SNORD115-26, SNORD115-27 +162 more	Duplication	15q11q13 microduplication syndrome	GLikely pathogenic
Select item 3062005	GRCh38/hg38 15q11.2-13.1(chr15:22612582-28435882)x4	GABRA5, GOLGA6L26 +170 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3062004	GRCh38/hg38 15q11.2-13.1(chr15:22612582-29993699)	APBA2, ATP10A +189 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3062003	GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118)	APBA2, ARHGAP11B +227 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 2574688	GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)	APBA2, ATP10A +32 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 2506559	GRCh37/hg19 15q11.2-13.1(chr15:23684691-28566579)	PWAR4, PWAR5 +22 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 1707411	Single allele	CYFIP1, LOC112272575 +9 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
Select item 1703637	GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545601)	ATP10A, GABRA5 +22 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 1703231	Single allele	OCA2, PWAR1 +178 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
Select item 1341875	NC_000015.10:g.31722025_32224686dup	CHRNA7, LOC125078053 +3 more	Duplication	15q11q13 microduplication syndrome	GUncertain significance
Select item 1098669	NC_000015.10:g.22804175_30375696dup	PWRN1, SNORD116-6 +184 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
Select item 666599	Single allele	OCA2, PWAR1 +21 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
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 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 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 625712	GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457)	APBA2, ARHGAP11B +44 more	Copy number gain	15q11q13 microduplication syndrome	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 386816	NM_015570.4(AUTS2):c.3169G>A (p.Gly1057Ser)	AUTS2 (G1057S +1 more)	Single nucleotide variant (missense variant)	15q11q13 microduplication syndrome +1 more	GUncertain significance
Select item 236260	Single allele		Variation	15q11q13 microduplication syndrome	GPathogenic

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Items: 22