ClinVar for Gene (Select 554) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236770	NM_000054.7(AVPR2):c.520C>G (p.Gln174Glu)	AVPR2 (Q174E)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GLikely pathogenic
Select item 3236179	NM_000054.7(AVPR2):c.649C>T (p.Pro217Ser)	AVPR2 (P217S)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GUncertain significance
Select item 3234058	NM_000054.7(AVPR2):c.575G>C (p.Cys192Ser)	AVPR2 (C192S)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GPathogenic
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3132443	NM_000054.7(AVPR2):c.689G>A (p.Arg230Gln)	AVPR2 (R230Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3132442	NM_000054.7(AVPR2):c.535G>A (p.Ala179Thr)	AVPR2 (A179T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3066243	NM_000054.7(AVPR2):c.342del (p.Ala114_Val115insTer)	AVPR2	Deletion (frameshift variant)	Diabetes insipidus, nephrogenic, X-linked	GPathogenic
Select item 3066030	NC_000023.11:g.153670446_154329698dup	ABCD1, ARHGAP4 +59 more	Duplication	Chromosome Xq28 duplication syndrome	GPathogenic
Select item 3062586	GRCh37/hg19 Xq28(chrX:153163442-153171772)	AVPR2	Copy number loss	not specified	GPathogenic
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
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 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 3029373	NM_000054.7(AVPR2):c.1030C>T (p.Arg344Trp)	AVPR2 (R344W)	Single nucleotide variant (missense variant +2 more)	AVPR2-related disorder	GUncertain significance
Select item 3027426	NM_000054.7(AVPR2):c.522G>T (p.Gln174His)	AVPR2 (Q174H)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, X-linked	GLikely pathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TMEM31, TMEM35A +488 more	Copy number gain	not provided	GPathogenic
Select item 3018595	NM_000054.7(AVPR2):c.261C>T (p.Ala87=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018579	NM_000054.7(AVPR2):c.225C>T (p.His75=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012504	NM_000054.7(AVPR2):c.567C>G (p.Val189=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3009500	NM_000054.7(AVPR2):c.911-15C>T	AVPR2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3005194	NM_000054.7(AVPR2):c.1050C>T (p.Ser350=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3004903	NM_000054.7(AVPR2):c.516G>A (p.Leu172=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3002903	NM_000054.7(AVPR2):c.570T>C (p.Thr190=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3001955	NM_000054.7(AVPR2):c.774G>A (p.Glu258=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2996939	NM_000054.7(AVPR2):c.615T>C (p.Tyr205=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2996060	NM_000054.7(AVPR2):c.397A>C (p.Met133Leu)	AVPR2 (M133L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994749	NM_000054.7(AVPR2):c.688C>A (p.Arg230=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990768	NM_000054.7(AVPR2):c.708G>C (p.Leu236=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2989560	NM_000054.7(AVPR2):c.911-8C>T	AVPR2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2980750	NM_000054.7(AVPR2):c.910+16G>A	AVPR2 (G309D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2977712	NM_000054.7(AVPR2):c.1006C>T (p.Leu336=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2977391	NM_000054.7(AVPR2):c.666C>T (p.Ala222=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2973763	NM_000054.7(AVPR2):c.306C>T (p.Thr102=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973682	NM_000054.7(AVPR2):c.1059C>G (p.Pro353=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2972617	NM_000054.7(AVPR2):c.26-14C>T	AVPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969309	NM_000054.7(AVPR2):c.501G>A (p.Ser167=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967988	NM_000054.7(AVPR2):c.911-13T>C	AVPR2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2967326	NM_000054.7(AVPR2):c.891C>T (p.Asp297=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2964993	NM_000054.7(AVPR2):c.26-13G>A	AVPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963725	NM_000054.7(AVPR2):c.1029C>T (p.Ala343=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2961429	NM_000054.7(AVPR2):c.477G>A (p.Pro159=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960999	NM_000054.7(AVPR2):c.1046C>T (p.Pro349Leu)	AVPR2 (P349L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2960685	NM_000054.7(AVPR2):c.639G>A (p.Val213=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2958838	NM_000054.7(AVPR2):c.910+12C>T	AVPR2 (R308C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2958356	NM_000054.7(AVPR2):c.910+13G>A	AVPR2 (R308H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2957004	NM_000054.7(AVPR2):c.1062A>G (p.Gln354=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2912409	NM_000054.7(AVPR2):c.948C>G (p.Leu316=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2906535	NM_000054.7(AVPR2):c.874C>T (p.Leu292=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2905424	NM_000054.7(AVPR2):c.783C>T (p.His261=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2898414	NM_000054.7(AVPR2):c.450T>C (p.His150=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895594	NM_000054.7(AVPR2):c.975T>C (p.Tyr325=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2890168	NM_000054.7(AVPR2):c.18C>T (p.Thr6=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2885868	NM_000054.7(AVPR2):c.751C>G (p.Arg251Gly)	AVPR2 (R251G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2885867	NM_000054.7(AVPR2):c.749G>A (p.Gly250Glu)	AVPR2 (G250E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2882089	NM_000054.7(AVPR2):c.483A>C (p.Leu161=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875817	NM_000054.7(AVPR2):c.912G>C (p.Gly304=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2871189	NM_000054.7(AVPR2):c.966C>G (p.Pro322=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2870526	NM_000054.7(AVPR2):c.591G>A (p.Ala197=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2868249	NM_000054.7(AVPR2):c.312C>T (p.Arg104=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863239	NM_000054.7(AVPR2):c.1080C>T (p.Thr360=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2856870	NM_000054.7(AVPR2):c.96G>A (p.Arg32=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849877	NM_000054.7(AVPR2):c.984C>T (p.Phe328=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2848256	NM_000054.7(AVPR2):c.723A>G (p.Ser241=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2847264	NM_000054.7(AVPR2):c.582C>T (p.Ala194=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2846508	NM_000054.7(AVPR2):c.378C>T (p.Ser126=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840939	NM_000054.7(AVPR2):c.744C>T (p.Arg248=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2838832	NM_000054.7(AVPR2):c.25+18A>G	AVPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838487	NM_000054.7(AVPR2):c.693G>A (p.Glu231=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2835082	NM_000054.7(AVPR2):c.332T>C (p.Leu111Pro)	AVPR2 (L111P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2832733	NM_000054.7(AVPR2):c.36G>A (p.Gly12=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830223	NM_000054.7(AVPR2):c.159G>A (p.Leu53=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829125	NM_000054.7(AVPR2):c.532_533insA (p.Phe178fs)	AVPR2 (F178fs)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2827661	NM_000054.7(AVPR2):c.828T>C (p.Ile276=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2827198	NM_000054.7(AVPR2):c.981_993del (p.Phe328fs)	AVPR2 (F328fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2821294	NM_000054.7(AVPR2):c.609C>T (p.Arg203=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2821293	NM_000054.7(AVPR2):c.246C>T (p.Cys82=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821292	NM_000054.7(AVPR2):c.216A>G (p.Ala72=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817686	NM_000054.7(AVPR2):c.375C>T (p.Ala125=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815623	NM_000054.7(AVPR2):c.207C>A (p.Gly69=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812101	NM_000054.7(AVPR2):c.888G>A (p.Trp296Ter)	AVPR2 (W296*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2809235	NM_000054.7(AVPR2):c.819G>A (p.Thr273=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2807689	NM_000054.7(AVPR2):c.904C>T (p.Leu302=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2806753	NM_000054.7(AVPR2):c.910+9A>G	AVPR2 (S307G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2805977	NM_000054.7(AVPR2):c.300G>A (p.Lys100=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802943	NM_000054.7(AVPR2):c.910+14T>C	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2802324	NM_000054.7(AVPR2):c.26-8C>T	AVPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802195	NM_000054.7(AVPR2):c.402G>A (p.Thr134=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798685	NM_000054.7(AVPR2):c.25+11C>T	AVPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792632	NM_000054.7(AVPR2):c.603C>T (p.Gly201=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2785940	NM_000054.7(AVPR2):c.915G>A (p.Ala305=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2781776	NM_000054.7(AVPR2):c.264G>A (p.Val88=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780312	NM_000054.7(AVPR2):c.657G>T (p.Leu219=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2779703	NM_000054.7(AVPR2):c.525C>G (p.Leu175=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2777542	NM_000054.7(AVPR2):c.651T>G (p.Pro217=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2768400	NM_000054.7(AVPR2):c.972C>A (p.Ile324=)	AVPR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2755980	NM_000054.7(AVPR2):c.573C>T (p.Asp191=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2754566	NM_000054.7(AVPR2):c.423C>T (p.Ile141=)	AVPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2753369	NM_000054.7(AVPR2):c.910+15G>C	AVPR2 (G309R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2753009	NM_000054.7(AVPR2):c.810G>C (p.Val270=)	AVPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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