ClinVar for MedGen (Select 462792) - ClinVar

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

Links from MedGen

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3583082	NM_001143992.2(WRAP53):c.1369T>C (p.Phe457Leu)	WRAP53 (F457L)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 3583081	NM_001143992.2(WRAP53):c.1257del (p.Phe419fs)	WRAP53 (F419fs)	Deletion (frameshift variant)	Dyskeratosis congenita, autosomal recessive 3	GLikely pathogenic
Select item 3583079	NM_001143992.2(WRAP53):c.1028G>A (p.Gly343Asp)	WRAP53 (G343D)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 3583078	NM_001143992.2(WRAP53):c.574A>G (p.Ile192Val)	WRAP53 (I192V)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 3583077	NM_001143992.2(WRAP53):c.560A>G (p.Asn187Ser)	WRAP53 (N187S)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 3333250	NM_001143992.2(WRAP53):c.1516C>T (p.Arg506Cys)	WRAP53 (R506C)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 3 +1 more	GUncertain significance
Select item 2902230	NM_001143992.2(WRAP53):c.823-11C>G	WRAP53	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 3 +1 more	GConflicting classifications of pathogenicity
Select item 2898781	NM_001143992.2(WRAP53):c.309C>G (p.Ser103Arg)	WRAP53 (S103R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 3 +1 more	GUncertain significance
Select item 2893445	NM_001143992.2(WRAP53):c.616G>C (p.Gly206Arg)	WRAP53 (G206R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 3 +1 more	GUncertain significance
Select item 2173206	NM_001143992.2(WRAP53):c.1604A>G (p.Lys535Arg)	WRAP53 (K535R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2172965	NM_001143992.2(WRAP53):c.154C>T (p.Arg52Trp)	WRAP53 (R52W)	Single nucleotide variant (missense variant)	not provided +2 more	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 1912927	NM_001143992.2(WRAP53):c.509del (p.Asn170fs)	WRAP53 (N170fs)	Deletion (frameshift variant)	Dyskeratosis congenita, autosomal recessive 3 +1 more	GConflicting classifications of pathogenicity
Select item 1675152	NM_001143992.2(WRAP53):c.956-6del	WRAP53	Deletion (intron variant)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 1527854	NM_001143992.2(WRAP53):c.1557_1559del (p.Cys519_Gly520delinsTrp)	WRAP53	Deletion (inframe_indel)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 1499793	NM_001143992.2(WRAP53):c.46T>G (p.Ser16Ala)	WRAP53 (S16A)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 3 +1 more	GUncertain significance
Select item 1439759	NM_001143992.2(WRAP53):c.752A>G (p.Glu251Gly)	WRAP53 (E251G)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 1418774	NM_001143992.2(WRAP53):c.280G>A (p.Glu94Lys)	WRAP53 (E94K)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 1357494	NM_001143992.2(WRAP53):c.1517G>A (p.Arg506His)	WRAP53 (R506H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1327075	NM_001143992.2(WRAP53):c.1168G>A (p.Ala390Thr)	WRAP53 (A390T)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 1305946	NM_001143992.2(WRAP53):c.1049del (p.Gly350fs)	WRAP53 (G350fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 1163410	NM_001143992.2(WRAP53):c.919C>T (p.Arg307Trp)	WRAP53 (R307W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1005376	NM_001143992.2(WRAP53):c.794G>A (p.Arg265Gln)	WRAP53 (R265Q)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 3 +1 more	GUncertain significance
Select item 973618	NM_001143992.2(WRAP53):c.1561G>T (p.Gly521Trp)	WRAP53 (G521W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 973617	NM_001143992.2(WRAP53):c.1441G>A (p.Gly481Ser)	WRAP53 (G481S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 940521	NM_001143992.2(WRAP53):c.1522G>A (p.Val508Ile)	WRAP53 (V508I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 891912	NM_001143992.2(WRAP53):c.1627G>A (p.Gly543Ser)	WRAP53 (G543S)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 891911	NM_001143992.2(WRAP53):c.1537C>G (p.Arg513Gly)	WRAP53 (R513G)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 3 +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 890669	NM_001143992.2(WRAP53):c.1268C>T (p.Pro423Leu)	WRAP53 (P423L)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 3 +1 more	GUncertain significance
Select item 890090	NM_001143992.2(WRAP53):c.956-14C>T	WRAP53	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 890089	NM_001143992.2(WRAP53):c.860C>T (p.Pro287Leu)	WRAP53 (P287L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 889406	NM_001143992.2(WRAP53):c.643-4A>G	WRAP53	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 843298	NM_001143992.2(WRAP53):c.1564dup (p.Ala522fs)	WRAP53 (A522fs)	Duplication (frameshift variant)	not provided +2 more	GUncertain significance
Select item 744284	NM_001143992.2(WRAP53):c.720A>G (p.Pro240=)	WRAP53	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita +2 more	GConflicting classifications of pathogenicity
Select item 742999	NM_001143992.2(WRAP53):c.1521C>T (p.His507=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 735242	NM_001143992.2(WRAP53):c.1566G>A (p.Ala522=)	WRAP53	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 710103	NM_001143992.2(WRAP53):c.732C>T (p.Tyr244=)	WRAP53	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita +3 more	GLikely benign
Select item 638511	NM_001143992.2(WRAP53):c.1118del (p.Leu373fs)	WRAP53 (L373fs)	Deletion (frameshift variant)	Dyskeratosis congenita, autosomal recessive 3	GPathogenic
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 626052	NM_001143992.2(WRAP53):c.550A>C (p.Ile184Leu)	WRAP53 (I184L)	Single nucleotide variant (missense variant)	WRAP53-related disorder +1 more	GUncertain significance
Select item 619289	NM_001143992.2(WRAP53):c.807C>T (p.Arg269=)	WRAP53	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita +3 more	GBenign/Likely benign
Select item 369236	NM_018081.2(WRAP53):c.-206G>A	TP53, WRAP53	Single nucleotide variant (5 prime UTR variant +1 more)	Li-Fraumeni syndrome +1 more	GBenign/Likely benign
Select item 369235	NM_018081.2(WRAP53):c.-245G>C	LOC130060173, TP53 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 325664	NM_001143992.2(WRAP53):c.1448G>A (p.Arg483His)	WRAP53 (R483H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 325663	NM_001143992.2(WRAP53):c.1403+6C>T	WRAP53	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 325662	NM_001143992.2(WRAP53):c.1269-13C>T	WRAP53	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 325661	NM_001143992.2(WRAP53):c.1035C>T (p.Tyr345=)	WRAP53	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita +2 more	GConflicting classifications of pathogenicity
Select item 325660	NM_001143992.2(WRAP53):c.976G>A (p.Gly326Ser)	WRAP53 (G326S)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 3 +2 more	GUncertain significance
Select item 325659	NM_001143992.2(WRAP53):c.936C>T (p.Cys312=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 325658	NM_001143992.2(WRAP53):c.834G>A (p.Thr278=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 325657	NM_001143992.2(WRAP53):c.823-10C>T	WRAP53	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 325656	NM_001143992.2(WRAP53):c.822+10G>A	WRAP53	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 3 +1 more	GConflicting classifications of pathogenicity
Select item 325654	NM_001143992.2(WRAP53):c.495C>T (p.Ser165=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 325651	NM_001143992.2(WRAP53):c.187G>A (p.Val63Met)	TP53, WRAP53 (V63M)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 3 +2 more	GUncertain significance
Select item 325650	NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser)	TP53, WRAP53 (P11S)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 3 +5 more	GBenign/Likely benign
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 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 325647	NM_018081.2(WRAP53):c.-255G>A	LOC130060173, WRAP53	Single nucleotide variant (5 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 261003	NM_001143992.2(WRAP53):c.450C>T (p.Phe150=)	TP53, WRAP53	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 3 +4 more	GBenign/Likely benign
Select item 261002	NM_001143992.2(WRAP53):c.407C>G (p.Pro136Arg)	TP53, WRAP53 (P136R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 3 +4 more	GBenign/Likely benign
Select item 261001	NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly)	TP53, WRAP53 (R68G)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +4 more	GBenign
Select item 260999	NM_001143992.2(WRAP53):c.1565C>G (p.Ala522Gly)	WRAP53 (A522G)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 260997	NM_001143992.2(WRAP53):c.1359C>T (p.Pro453=)	WRAP53	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 3 +2 more	GBenign/Likely benign
Select item 260996	NM_001143992.2(WRAP53):c.1308T>C (p.Ala436=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 225516	NM_001143992.2(WRAP53):c.1564del (p.Ala522fs)	WRAP53 (A522fs)	Deletion (frameshift variant)	Dyskeratosis congenita, autosomal recessive 3 +1 more	GUncertain significance
Select item 41252	NM_001143992.2(WRAP53):c.492C>A (p.Phe164Leu)	WRAP53 (F164L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 41251	NM_001143992.2(WRAP53):c.1303G>A (p.Gly435Arg)	WRAP53 (G435R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30976	NM_001143992.2(WRAP53):c.1126C>T (p.His376Tyr)	WRAP53 (H376Y)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 3	GPathogenic
Select item 30975	NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp)	WRAP53 (R398W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 78