WRAP53[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1182360	NM_001143990.2(WRAP53):c.-1-448dup	WRAP53	Duplication (intron variant)	not provided	GBenign
Select item 1193678	NM_001143990.2(WRAP53):c.-1-426T>C	WRAP53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274330	NM_001143990.2(WRAP53):c.-1-412G>A	WRAP53	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271401	NM_001143990.2(WRAP53):c.-1-411T>A	WRAP53	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 369234	NM_001143990.2(WRAP53):c.-1-313T>G	WRAP53	Single nucleotide variant (intron variant)	Dyskeratosis Congenita, Recessive	GUncertain significance
Select item 891590	NM_001143992.2(WRAP53):c.-62C>T	WRAP53	Single nucleotide variant (5 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 325648	NM_001143992.2(WRAP53):c.-52C>T	WRAP53	Single nucleotide variant (5 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 891591	NM_001143992.2(WRAP53):c.-23C>G	WRAP53	Single nucleotide variant (5 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 325649	NM_001143992.2(WRAP53):c.-2+2T>C	WRAP53	Single nucleotide variant (5 prime UTR variant +2 more)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 891846	NM_001143992.2(WRAP53):c.-1-5T>G	WRAP53	Single nucleotide variant (intron variant +1 more)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 891845	NM_001143992.2(WRAP53):c.-1-5T>C	WRAP53	Single nucleotide variant (intron variant +1 more)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 2861726	NM_001143992.2(WRAP53):c.5dup (p.Thr3fs)	WRAP53 (T3fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1446792	NM_001143992.2(WRAP53):c.14A>C (p.Glu5Ala)	WRAP53 (E5A)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 1566881	NM_001143992.2(WRAP53):c.15G>A (p.Glu5=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 631791	NM_001143992.2(WRAP53):c.18_19del (p.Gln7fs)	WRAP53 (Q7fs)	Deletion (frameshift variant)	Dyskeratosis congenita, autosomal recessive 3 +1 more	GUncertain significance
Select item 723264	NM_001143992.2(WRAP53):c.18T>A (p.Thr6=)	WRAP53	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita +1 more	GLikely benign
Select item 1388150	NM_001143992.2(WRAP53):c.20A>G (p.Gln7Arg)	WRAP53 (Q7R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1590974	NM_001143992.2(WRAP53):c.24G>A (p.Pro8=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2729386	NM_001143992.2(WRAP53):c.29C>T (p.Ala10Val)	WRAP53 (A10V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172399	NM_001143992.2(WRAP53):c.32C>T (p.Pro11Leu)	WRAP53 (P11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1556688	NM_001143992.2(WRAP53):c.33G>C (p.Pro11=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1499793	NM_001143992.2(WRAP53):c.46T>G (p.Ser16Ala)	WRAP53 (S16A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986708	NM_001143992.2(WRAP53):c.54G>A (p.Gln18=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954684	NM_001143992.2(WRAP53):c.54G>C (p.Gln18His)	WRAP53 (Q18H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171536	NM_001143992.2(WRAP53):c.58C>T (p.Pro20Ser)	WRAP53 (P20S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956920	NM_001143992.2(WRAP53):c.64C>T (p.Pro22Ser)	WRAP53 (P22S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1399987	NM_001143992.2(WRAP53):c.77C>T (p.Ser26Phe)	WRAP53 (S26F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1549901	NM_001143992.2(WRAP53):c.81C>T (p.Pro27=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 891847	NM_001143992.2(WRAP53):c.106G>A (p.Ala36Thr)	WRAP53 (A36T)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 2783651	NM_001143992.2(WRAP53):c.110A>C (p.Asp37Ala)	WRAP53 (D37A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170268	NM_001143992.2(WRAP53):c.111C>T (p.Asp37=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1021568	NM_001143992.2(WRAP53):c.122T>C (p.Met41Thr)	WRAP53 (M41T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 747933	NM_001143992.2(WRAP53):c.129G>A (p.Pro43=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640312	NM_001143992.2(WRAP53):c.138A>G (p.Glu46=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795457	NM_001143992.2(WRAP53):c.140G>A (p.Arg47Lys)	WRAP53 (R47K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1373987	NM_001143992.2(WRAP53):c.142G>C (p.Gly48Arg)	WRAP53 (G48R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 797133	NM_001143992.2(WRAP53):c.144G>A (p.Gly48=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172965	NM_001143992.2(WRAP53):c.154C>T (p.Arg52Trp)	WRAP53 (R52W)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 1312936	NM_001143992.2(WRAP53):c.159G>T (p.Leu53Phe)	WRAP53 (L53F)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 2663449	NM_001143992.2(WRAP53):c.161C>A (p.Ser54Tyr)	WRAP53 (S54Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816665	NM_001143992.2(WRAP53):c.198G>A (p.Glu66=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181514	NM_001143992.2(WRAP53):c.203G>C (p.Arg68Pro)	WRAP53 (R68P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1423269	NM_001143992.2(WRAP53):c.208G>T (p.Gly70Trp)	WRAP53 (G70W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1567790	NM_001143992.2(WRAP53):c.213C>T (p.Asp71=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176025	NM_001143992.2(WRAP53):c.215C>G (p.Pro72Arg)	WRAP53 (P72R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1433040	NM_001143992.2(WRAP53):c.217G>A (p.Val73Ile)	WRAP53 (V73I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902348	NM_001143992.2(WRAP53):c.224_227del (p.Leu75fs)	WRAP53 (L75fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2176067	NM_001143992.2(WRAP53):c.221C>A (p.Ser74Tyr)	WRAP53 (S74Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1789692	NM_001143992.2(WRAP53):c.232C>A (p.Pro78Thr)	WRAP53 (P78T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1420426	NM_001143992.2(WRAP53):c.235C>A (p.Leu79Met)	WRAP53 (L79M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884450	NM_001143992.2(WRAP53):c.246G>A (p.Glu82=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1720966	NM_001143992.2(WRAP53):c.248T>C (p.Phe83Ser)	WRAP53 (F83S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434036	NM_001143992.2(WRAP53):c.256C>T (p.Pro86Ser)	WRAP53 (P86S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912524	NM_001143992.2(WRAP53):c.257C>T (p.Pro86Leu)	WRAP53 (P86L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889523	NM_001143992.2(WRAP53):c.265T>C (p.Leu89=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2421723	NM_001143992.2(WRAP53):c.265T>A (p.Leu89Met)	WRAP53 (L89M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377955	NM_001143992.2(WRAP53):c.274C>G (p.Arg92Gly)	WRAP53 (R92G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1418774	NM_001143992.2(WRAP53):c.280G>A (p.Glu94Lys)	WRAP53 (E94K)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 2873149	NM_001143992.2(WRAP53):c.292C>T (p.Leu98Phe)	WRAP53 (L98F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883743	NM_001143992.2(WRAP53):c.297T>C (p.Ser99=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1716960	NM_001143992.2(WRAP53):c.303T>G (p.Asn101Lys)	WRAP53 (N101K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1577235	NM_001143992.2(WRAP53):c.303T>C (p.Asn101=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1450042	NM_001143992.2(WRAP53):c.305C>T (p.Thr102Ile)	WRAP53 (T102I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2898781	NM_001143992.2(WRAP53):c.309C>G (p.Ser103Arg)	WRAP53 (S103R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1470730	NM_001143992.2(WRAP53):c.324A>C (p.Glu108Asp)	WRAP53 (E108D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 891848	NM_001143992.2(WRAP53):c.330C>T (p.Asn110=)	WRAP53	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 3 +1 more	GConflicting classifications of pathogenicity
Select item 1502371	NM_001143992.2(WRAP53):c.338T>C (p.Leu113Pro)	WRAP53 (L113P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1407531	NM_001143992.2(WRAP53):c.344AAG[2] (p.Glu117del)	WRAP53 (E117del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1416688	NM_001143992.2(WRAP53):c.346G>A (p.Glu116Lys)	WRAP53 (E116K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178049	NM_001143992.2(WRAP53):c.352G>T (p.Ala118Ser)	WRAP53 (A118S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171786	NM_001143992.2(WRAP53):c.352G>A (p.Ala118Thr)	WRAP53 (A118T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013306	NM_001143992.2(WRAP53):c.353C>G (p.Ala118Gly)	WRAP53 (A118G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190510	NM_001143992.2(WRAP53):c.353C>A (p.Ala118Glu)	WRAP53 (A118E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1542251	NM_001143992.2(WRAP53):c.354G>A (p.Ala118=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1046088	NM_001143992.2(WRAP53):c.358G>A (p.Gly120Arg)	WRAP53 (G120R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170452	NM_001143992.2(WRAP53):c.359G>T (p.Gly120Val)	WRAP53 (G120V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2103663	NM_001143992.2(WRAP53):c.359G>A (p.Gly120Glu)	WRAP53 (G120E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1433393	NM_001143992.2(WRAP53):c.364_385del (p.Glu122fs)	WRAP53 (E122fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2170453	NM_001143992.2(WRAP53):c.361C>T (p.Pro121Ser)	WRAP53 (P121S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1386076	NM_001143992.2(WRAP53):c.361C>G (p.Pro121Ala)	WRAP53 (P121A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193352	NM_001143992.2(WRAP53):c.373T>C (p.Ser125Pro)	WRAP53 (S125P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009169	NM_001143992.2(WRAP53):c.388G>A (p.Glu130Lys)	WRAP53 (E130K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883899	NM_001143992.2(WRAP53):c.390del (p.Asp131fs)	WRAP53 (D131fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 325652	NM_001143992.2(WRAP53):c.395C>A (p.Thr132Asn)	WRAP53 (T132N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1489225	NM_001143992.2(WRAP53):c.403dup (p.Glu135fs)	WRAP53 (E135fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1480939	NM_001143992.2(WRAP53):c.400G>A (p.Gly134Arg)	WRAP53 (G134R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642283	NM_001143992.2(WRAP53):c.405A>G (p.Glu135=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3046163	NM_001143992.2(WRAP53):c.411T>C (p.Ala137=)	WRAP53	Single nucleotide variant (synonymous variant)	WRAP53-related disorder	GLikely benign
Select item 1362176	NM_001143992.2(WRAP53):c.415G>A (p.Glu139Lys)	WRAP53 (E139K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835452	NM_001143992.2(WRAP53):c.419A>G (p.Asp140Gly)	WRAP53 (D140G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 325653	NM_001143992.2(WRAP53):c.431+15C>T	WRAP53	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1275261	NM_001143992.2(WRAP53):c.432-60C>T	WRAP53	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1957372	NM_001143992.2(WRAP53):c.432-16C>G	WRAP53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 889405	NM_001143992.2(WRAP53):c.432-15C>G	WRAP53	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 3 +1 more	GConflicting classifications of pathogenicity
Select item 1544844	NM_001143992.2(WRAP53):c.432-14C>T	WRAP53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1312596	NM_001143992.2(WRAP53):c.433G>A (p.Ala145Thr)	WRAP53 (A145T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981385	NM_001143992.2(WRAP53):c.438G>A (p.Trp146Ter)	WRAP53 (W146*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2978791	NM_001143992.2(WRAP53):c.442T>G (p.Tyr148Asp)	WRAP53 (Y148D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1445991	NM_001143992.2(WRAP53):c.446G>A (p.Ser149Asn)	WRAP53 (S149N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888127	NM_001143992.2(WRAP53):c.457C>T (p.Leu153=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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