Related gene-specific medical variations for Gene (Select 79750) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3195469	NM_024697.3(ZNF385D):c.235A>T (p.Ile79Phe)	ZNF385D, ZNF385D-AS1 (I79F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685035	GRCh37/hg19 3p24.3(chr3:20409972-21694365)x4	ZNF385D	Copy number gain	not provided	GUncertain significance
Select item 2617143	NM_024697.3(ZNF385D):c.208G>T (p.Val70Phe)	ZNF385D, ZNF385D-AS1 (V70F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408259	NM_024697.3(ZNF385D):c.224G>A (p.Arg75Gln)	ZNF385D, ZNF385D-AS1 (R75Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352559	NM_024697.3(ZNF385D):c.249C>A (p.Asn83Lys)	ZNF385D, ZNF385D-AS1 (N83K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809225	GRCh37/hg19 3p24.3(chr3:21757321-21827717)x1	ZNF385D	Copy number loss	not provided	GUncertain significance
Select item 814425	GRCh37/hg19 3p24.3(chr3:21625379-21890720)x3	ZNF385D	Copy number gain	not provided	GUncertain significance
Select item 713567	NM_024697.3(ZNF385D):c.231G>A (p.Lys77=)	ZNF385D, ZNF385D-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 562762	GRCh37/hg19 3p24.3(chr3:21510699-21841043)x1	ZNF385D	Copy number loss	not provided	GUncertain significance
Select item 443424	GRCh37/hg19 3p24.3(chr3:21649329-22412266)x3	ZNF385D	Copy number gain	See cases	GUncertain significance
Select item 156842	NC_000003.12:g.22241802_22244073del	ZNF385D	Deletion	Small for gestational age +1 more	Gnot provided
Select item 151829	GRCh38/hg38 3p24.3(chr3:22079119-22155543)x3	ZNF385D	Copy number gain	See cases	GBenign
Select item 144860	GRCh38/hg38 3p24.3(chr3:22079119-22213537)x1	ZNF385D	Copy number loss	See cases	GBenign