"GeneDx"[submitter] AND "AVP"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1181992	NC_000020.11:g.3082515T>C	AVP	Single nucleotide variant	not provided	GBenign
Select item 2443499	NM_000490.5(AVP):c.458C>T (p.Pro153Leu)	AVP (P153L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 383370	NM_000490.5(AVP):c.329G>A (p.Cys110Tyr)	AVP (C110Y)	Single nucleotide variant (missense variant)	Diabetes insipidus +2 more	GConflicting classifications of pathogenicity
Select item 424377	NM_000490.5(AVP):c.323A>T (p.Glu108Val)	AVP (E108V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1270671	NM_000490.5(AVP):c.322+28_322+29dup	AVP	Duplication (intron variant)	not provided	GBenign
Select item 1244639	NM_000490.5(AVP):c.322+28dup	AVP	Duplication (intron variant)	not provided	GBenign
Select item 1700421	NM_000490.5(AVP):c.262G>T (p.Gly88Cys)	AVP (G88C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 12213	NM_000490.5(AVP):c.161G>T (p.Gly54Val)	AVP (G54V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 12214	NM_000490.5(AVP):c.160G>C (p.Gly54Arg)	AVP (G54R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1237385	NM_000490.5(AVP):c.121-286T>C	AVP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182116	NM_000490.5(AVP):c.120+252G>A	AVP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230973	NC_000020.11:g.3084901A>G	AVP	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 253695	GRCh37/hg19 20p13(chr20:3026868-3657453)x3	DDRGK1, OXT +11 more	Copy number gain	See cases	GUncertain significance
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic
Select item 3360127	NM_000490.5(AVP):c.170T>A (p.Ile57Asn)	AVP (I57N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance