"PreventionGenetics, part of Exact Sciences"[submitter] AND "AVPR2"[ge - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 254771	NM_000054.7(AVPR2):c.12G>A (p.Ala4=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	Diabetes insipidus, nephrogenic, X-linked +3 more	GBenign/Likely benign
Select item 368071	NM_000054.7(AVPR2):c.19A>T (p.Thr7Ser)	AVPR2 (T7S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 254772	NM_000054.7(AVPR2):c.26-6T>G	AVPR2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 254773	NM_000054.7(AVPR2):c.35G>A (p.Gly12Glu)	AVPR2 (G12E)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, X-linked +2 more	GBenign
Select item 2630891	NM_000054.7(AVPR2):c.46_61del (p.Leu16fs)	AVPR2 (L16fs)	Deletion (frameshift variant)	AVPR2-related disorder	GPathogenic
Select item 733041	NM_000054.7(AVPR2):c.105G>A (p.Leu35=)	AVPR2	Single nucleotide variant (synonymous variant)	Diabetes insipidus, nephrogenic, X-linked +3 more	GBenign/Likely benign
Select item 2036881	NM_000054.7(AVPR2):c.338G>T (p.Arg113Leu)	AVPR2 (R113L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 254774	NM_000054.7(AVPR2):c.440C>T (p.Ala147Val)	AVPR2 (A147V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 722450	NM_000054.7(AVPR2):c.542G>A (p.Arg181His)	AVPR2 (R181H)	Single nucleotide variant (missense variant +1 more)	AVPR2-related disorder +1 more	GLikely benign
Select item 2629646	NM_000054.7(AVPR2):c.579_580del (p.Trp193fs)	AVPR2 (W193fs)	Deletion (frameshift variant +1 more)	AVPR2-related disorder	GLikely pathogenic
Select item 731000	NM_000054.7(AVPR2):c.744_755del (p.Arg249_Arg252del)	AVPR2	Deletion (inframe_deletion +1 more)	Diabetes insipidus, nephrogenic, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 998017	NM_000054.7(AVPR2):c.809_810del (p.Val270fs)	AVPR2 (V270fs)	Microsatellite (frameshift variant +1 more)	AVPR2-related disorder	GPathogenic
Select item 3043152	NM_000054.7(AVPR2):c.910+27C>T	AVPR2	Single nucleotide variant (3 prime UTR variant +1 more)	AVPR2-related disorder	GLikely benign
Select item 3047397	NM_000054.7(AVPR2):c.910+28G>A	AVPR2	Single nucleotide variant (3 prime UTR variant +1 more)	AVPR2-related disorder	GLikely benign
Select item 254775	NM_000054.7(AVPR2):c.927A>G (p.Leu309=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	Diabetes insipidus, nephrogenic, X-linked +3 more	GBenign
Select item 254776	NM_000054.7(AVPR2):c.993C>T (p.Ser331=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 3029373	NM_000054.7(AVPR2):c.1030C>T (p.Arg344Trp)	AVPR2 (R344W)	Single nucleotide variant (missense variant +2 more)	AVPR2-related disorder	GUncertain significance