Related gene-specific medical variations for Gene (Select 554) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062586	GRCh37/hg19 Xq28(chrX:153163442-153171772)	AVPR2	Copy number loss	not specified	GPathogenic
Select item 2688658	NM_000054.7(AVPR2):c.943A>T (p.Ser315Cys)	AVPR2 (S315C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2683940	NM_000054.7(AVPR2):c.993dup (p.Val332fs)	AVPR2 (V332fs)	Duplication (frameshift variant +2 more)	Diabetes insipidus, nephrogenic, X-linked	GLikely pathogenic
Select item 2439450	NM_000054.7(AVPR2):c.202C>T (p.Arg68Trp)	AVPR2 (R68W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435099	NM_000054.7(AVPR2):c.348_349delinsAGG (p.Tyr117fs)	AVPR2 (Y117fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1324012	NM_000054.7(AVPR2):c.871C>T (p.Gln291Ter)	AVPR2 (Q291*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 394597	GRCh37/hg19 Xq28(chrX:153169608-153170708)x2	AVPR2	Copy number gain	See cases	GLikely benign
Select item 394488	GRCh37/hg19 Xq28(chrX:153169608-153170664)x2	AVPR2	Copy number gain	See cases	GLikely benign
Select item 394487	GRCh37/hg19 Xq28(chrX:153169608-153170664)x3	AVPR2	Copy number gain	See cases	GBenign/Likely benign
Select item 279590	NM_000054.7(AVPR2):c.886T>C (p.Trp296Arg)	AVPR2 (W296R)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GUncertain significance
Select item 267269	NM_000054.7(AVPR2):c.966del (p.Trp323fs)	AVPR2 (W323fs)	Deletion (frameshift variant +2 more)	Diabetes insipidus, nephrogenic, X-linked	GPathogenic
Select item 235612	NM_000054.7(AVPR2):c.392T>C (p.Leu131Pro)	AVPR2 (L131P)	Single nucleotide variant (missense variant)	not provided	GPathogenic