ZNF385D-AS1[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
Select item 57979	GRCh38/hg38 3p24.3-24.2(chr3:19915382-25537973)x3	EFHB, KAT2B +115 more	Copy number gain	See cases	GPathogenic
Select item 57768	GRCh38/hg38 3p24.3-24.2(chr3:20054451-23858736)x1	KAT2B, LOC101927829 +77 more	Copy number loss	See cases	GPathogenic
Select item 147491	GRCh38/hg38 3p24.3(chr3:21346096-21961801)x3	LOC129389038, LOC132088932 +9 more	Copy number gain	See cases	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 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 713567	NM_024697.3(ZNF385D):c.231G>A (p.Lys77=)	ZNF385D, ZNF385D-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2617143	NM_024697.3(ZNF385D):c.208G>T (p.Val70Phe)	ZNF385D, ZNF385D-AS1 (V70F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance