ClinVar for MedGen (Select 461504) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024180	GRCh38/hg38 16p11.2(chr16:29329272-30178707)x1	LOC130058763, LOC130058764 +107 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2576522	GRCh37/hg19 16p11.2(chr16:29656684-30197341)x1	ALDOA, ASPHD1 +28 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1810288	GRCh37/hg19 16p11.2(chr16:29651706-30193525)x1	C16orf92, CDIPT +24 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	Gnot provided
Select item 1703589	GRCh37/hg19 16p12.2(chr16:21801889-22431357)	CDR2, EEF2K +7 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1703578	GRCh37/hg19 16p11.2(chr16:29567295-30178406)	ALDOA, ASPHD1 +24 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1703556	GRCh37/hg19 16p11.2(chr16:29580020-30177916)	ALDOA, ASPHD1 +24 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1703545	GRCh37/hg19 16p11.2(chr16:29580020-30177999)	ALDOA, ASPHD1 +24 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1703534	GRCh37/hg19 16p12.2(chr16:21801889-22710614)	CDR2, EEF2K +8 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1691337	NM_005411.5(SFTPA1):c.292G>A (p.Gly98Arg)	SFTPA1 (G113R +3 more)	Single nucleotide variant (missense variant)	Proximal 16p11.2 microdeletion syndrome	GUncertain significance
Select item 1684661	NC_000016.10:g.29640592_30187862del	GDPD3, LOC130058793 +101 more	Deletion	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1077191	Single allele	ATP2A1, ATXN2L +8 more	Deletion	Proximal 16p11.2 microdeletion syndrome	GLikely pathogenic
Select item 1077186	Single allele	GDPD3, ALDOA +28 more	Deletion	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 974579	Single allele	DOC2A, GDPD3 +31 more	Deletion	Proximal 16p11.2 microdeletion syndrome	Grisk factor
Select item 812191	Single allele	RABEP2, TUFM +7 more	Deletion	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 666440	GRCh37/hg19 16p11.2(chr16:29674336-30198123)x1	ALDOA, ASPHD1 +25 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 666439	GRCh37/hg19 16p11.2(chr16:29674336-30199351)x1	HIRIP3, INO80E +25 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 625688	GRCh37/hg19 16p11.2(chr16:29673203-30199713)	ALDOA, ASPHD1 +25 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 625650	GRCh37/hg19 16p11.2(chr16:29595483-30199713)	ALDOA, ASPHD1 +25 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 625606	GRCh37/hg19 16p11.2(chr16:29678569-30199402)	ALDOA, ASPHD1 +25 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 625605	GRCh37/hg19 16p11.2(chr16:29673203-30133233)	ALDOA, ASPHD1 +24 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 625602	GRCh37/hg19 16p11.2(chr16:29042050-30199025)	ALDOA, ASPHD1 +28 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 41405	16p11.2 recurrent region (BP4-BP5)	ALDOA, ASPHD1 +101 more	Deletion	Proximal 16p11.2 microdeletion syndrome	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 22