ZNF664-RFLNA[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 145552	GRCh38/hg38 12q24.31(chr12:123509825-123975309)x3	ATP6V0A2, CCDC92 +31 more	Copy number gain	See cases	GUncertain significance
Select item 2328979	NM_152437.3(ZNF664):c.211A>G (p.Thr71Ala)	ZNF664, ZNF664-RFLNA (T71A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197563	NM_152437.3(ZNF664):c.217A>C (p.Lys73Gln)	ZNF664, ZNF664-RFLNA (K73Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643546	NM_152437.3(ZNF664):c.537G>A (p.Ala179=)	ZNF664, ZNF664-RFLNA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2333286	NM_152437.3(ZNF664):c.741A>C (p.Arg247Ser)	ZNF664, ZNF664-RFLNA (R247S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250857	NM_152437.3(ZNF664):c.781A>T (p.Ile261Leu)	ZNF664, ZNF664-RFLNA (I261L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643547	NM_001365156.1(RFLNA):c.396G>A (p.Thr132=)	RFLNA, ZNF664-RFLNA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1328933	NM_001365156.1(RFLNA):c.484del (p.Leu162fs)	RFLNA, ZNF664-RFLNA (L162fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance