ClinVar for Gene (Select 552889) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3132324	NM_001136262.2(ATXN7L3B):c.218C>A (p.Pro73Gln)	ATXN7L3B (P73Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063254	GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1	ACSS3, ATXN7L3B +23 more	Copy number loss	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 3063236	GRCh37/hg19 12q21.1(chr12:74449382-75057687)x1	ATXN7L3B	Copy number loss	not specified	GUncertain significance
Select item 2643664	GRCh37/hg19 12q21.1(chr12:74931615-75445097)x1	ATXN7L3B, KCNC2	Copy number loss	not provided	GUncertain significance
Select item 2622831	NM_001136262.2(ATXN7L3B):c.271C>T (p.Arg91Cys)	ATXN7L3B (R91C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482152	NM_001136262.2(ATXN7L3B):c.211C>T (p.Arg71Cys)	ATXN7L3B (R71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208872	NM_001136262.2(ATXN7L3B):c.250G>A (p.Gly84Arg)	ATXN7L3B (G84R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207267	NM_001136262.2(ATXN7L3B):c.251G>A (p.Gly84Glu)	ATXN7L3B (G84E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340527	GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1	TBC1D15, THAP2 +25 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +125 more	Copy number loss	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	ATXN7L3B, BEST3 +141 more	Copy number loss	See cases	GLikely pathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic