ClinVar for Gene (Select 107080620) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3204048	NM_001351578.2(ODF2):c.691C>G (p.Arg231Gly)	ODF2, ODF2-AS1 (R124G +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620470	NM_001351578.2(ODF2):c.865T>C (p.Cys289Arg)	ODF2, ODF2-AS1 (C182R +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2405285	NM_001351578.2(ODF2):c.627G>T (p.Lys209Asn)	ODF2, ODF2-AS1 (K102N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357306	NM_001351578.2(ODF2):c.803G>T (p.Arg268Leu)	ODF2, ODF2-AS1 (R104L +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342787	NM_001351578.2(ODF2):c.524C>T (p.Thr175Met)	ODF2, ODF2-AS1 (T117M +8 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2309613	NM_001351578.2(ODF2):c.799G>A (p.Glu267Lys)	ODF2, ODF2-AS1 (E103K +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292816	NM_001351578.2(ODF2):c.779C>T (p.Thr260Met)	ODF2, ODF2-AS1 (T153M +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290902	NM_001351578.2(ODF2):c.890C>T (p.Ala297Val)	ODF2, ODF2-AS1 (A133V +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2282087	NM_001351578.2(ODF2):c.647C>T (p.Ala216Val)	ODF2, ODF2-AS1 (A109V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002653, LOC130002654 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150008	GRCh38/hg38 9q34.11(chr9:128236347-128912067)x1	CERCAM, COQ4 +70 more	Copy number loss	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 27