ClinVar for MedGen (Select 216941) - ClinVar

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

Links from MedGen

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255134	NM_001363.5(DKC1):c.1120G>A (p.Asp374Asn)	DKC1 (D374N)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GUncertain significance
Select item 3254578	NM_001363.5(DKC1):c.1496A>G (p.Lys499Arg)	DKC1 (K494R +1 more)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita, X-linked	GUncertain significance
Select item 2674846	NM_001363.5(DKC1):c.964C>T (p.Arg322Ter)	DKC1 (R322*)	Single nucleotide variant (nonsense +1 more)	Dyskeratosis congenita, X-linked	GLikely pathogenic
Select item 2664154	NM_001363.5(DKC1):c.114C>G (p.Ile38Met)	DKC1 (I38M)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GLikely pathogenic
Select item 2663986	NM_001363.5(DKC1):c.1214C>T (p.Thr405Ile)	DKC1 (T405I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked +1 more	GUncertain significance
Select item 2444898	NM_001363.5(DKC1):c.1240C>G (p.Gln414Glu)	DKC1 (Q414E)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 2064767	NM_001363.5(DKC1):c.559A>C (p.Ile187Leu)	DKC1 (I187L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 1802166	NM_001283009.2(RTEL1):c.1379C>T (p.Pro460Leu)	RTEL1, RTEL1-TNFRSF6B (P237L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, X-linked	GPathogenic
Select item 1526146	NM_001363.5(DKC1):c.1225C>T (p.Pro409Ser)	DKC1 (P409S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GUncertain significance
Select item 1434341	NM_001363.5(DKC1):c.253G>A (p.Asp85Asn)	DKC1 (D85N)	Single nucleotide variant (missense variant +1 more)	Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 +2 more	GConflicting classifications of pathogenicity
Select item 1384870	NM_001363.5(DKC1):c.1318G>A (p.Glu440Lys)	DKC1 (E440K +1 more)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 1343818	NM_001363.5(DKC1):c.204C>G (p.His68Gln)	DKC1 (H68Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GLikely pathogenic
Select item 1301618	NM_001363.5(DKC1):c.1429AAG[1] (p.Lys478del)	DKC1 (K473del +1 more)	Microsatellite (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 960459	NM_001363.5(DKC1):c.42GAA[1] (p.Lys17del)	DKC1 (K17del)	Microsatellite (inframe_deletion +1 more)	Dyskeratosis congenita, X-linked +1 more	GUncertain significance
Select item 930355	NM_001363.5(DKC1):c.133G>A (p.Ala45Thr)	DKC1 (A45T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GLikely pathogenic
Select item 916631	NM_001363.5(DKC1):c.1195G>C (p.Asp399His)	DKC1 (D399H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GLikely pathogenic
Select item 858747	NM_001283009.2(RTEL1):c.1266+3_1266+80del	RTEL1, RTEL1-TNFRSF6B	Deletion (splice donor variant)	Dyskeratosis congenita, autosomal recessive 5 +4 more	GConflicting classifications of pathogenicity
Select item 529176	NM_001363.5(DKC1):c.487A>C (p.Ile163Leu)	DKC1 (I163L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 446380	NM_001363.5(DKC1):c.203A>G (p.His68Arg)	DKC1 (H68R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GPathogenic
Select item 434943	NM_001363.5(DKC1):c.1255T>A (p.Tyr419Asn)	DKC1 (Y419N)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita, X-linked	GLikely pathogenic
Select item 427887	NM_001363.5(DKC1):c.1054A>G (p.Thr352Ala)	DKC1 (T352A)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GLikely pathogenic
Select item 379736	NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln)	DKC1 (R378Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 238951	NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del)	DKC1 (K505del +1 more)	Microsatellite (inframe_deletion +2 more)	Dyskeratosis congenita, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 210847	NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup)	DKC1	Microsatellite (inframe_insertion +2 more)	not specified +3 more	GBenign/Likely benign
Select item 166995	NM_001363.5(DKC1):c.*6G>A	DKC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita, X-linked +2 more	GBenign
Select item 166994	NM_001363.5(DKC1):c.369G>T (p.Thr123=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, X-linked +3 more	GBenign/Likely benign
Select item 68417	NM_001363.5(DKC1):c.214C>T (p.Leu72Phe)	DKC1 (L72F)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 68416	NM_001363.5(DKC1):c.166_167delinsTC (p.Leu56Ser)	DKC1 (L56S)	Indel (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38959	NM_001363.5(DKC1):c.965G>A (p.Arg322Gln)	DKC1 (R322Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 38958	NM_001363.5(DKC1):c.961C>G (p.Leu321Val)	DKC1 (L321V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38957	NM_001363.5(DKC1):c.949C>T (p.Leu317Phe)	DKC1 (L317F)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 38956	NM_001363.5(DKC1):c.949C>G (p.Leu317Val)	DKC1 (L317V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38955	NM_001363.5(DKC1):c.941A>G (p.Lys314Arg)	DKC1 (K314R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38954	NM_001363.5(DKC1):c.91C>G (p.Gln31Glu)	DKC1 (Q31E)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38953	NM_001363.5(DKC1):c.911G>A (p.Ser304Asn)	DKC1 (S304N)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38952	NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)	DKC1 (S280R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 38951	NM_001363.5(DKC1):c.5C>T (p.Ala2Val)	DKC1 (A2V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GConflicting classifications of pathogenicity
Select item 38950	NM_001363.5(DKC1):c.472C>T (p.Arg158Trp)	DKC1 (R158W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 38949	NM_001363.5(DKC1):c.29C>T (p.Pro10Leu)	DKC1 (P10L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38948	NM_001363.5(DKC1):c.204C>A (p.His68Gln)	DKC1 (H68Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38947	NM_001363.5(DKC1):c.200C>T (p.Thr67Ile)	DKC1 (T67I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38946	NM_001363.5(DKC1):c.196A>G (p.Thr66Ala)	DKC1 (T66A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 38945	NM_001363.5(DKC1):c.194G>C (p.Arg65Thr)	DKC1 (R65T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38944	NM_001363.5(DKC1):c.-142C>G	DKC1, LOC130068886	Single nucleotide variant	Dyskeratosis congenita, X-linked +3 more	GConflicting classifications of pathogenicity
Select item 38943	NM_001363.5(DKC1):c.127A>G (p.Lys43Glu)	DKC1 (K43E)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38942	NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu)	DKC1 (P409L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GLikely pathogenic
Select item 38941	NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile)	DKC1 (T408I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GConflicting classifications of pathogenicity
Select item 38940	NM_001363.5(DKC1):c.121G>A (p.Glu41Lys)	DKC1 (E41K)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 38939	NM_001363.5(DKC1):c.1204G>A (p.Gly402Arg)	DKC1 (G402R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38938	NM_001363.5(DKC1):c.1193T>C (p.Leu398Pro)	DKC1 (L398P)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38937	NM_001363.5(DKC1):c.115A>G (p.Lys39Glu)	DKC1 (K39E)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38936	NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr)	DKC1 (A386T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GPathogenic
Select item 38935	NM_001363.5(DKC1):c.1151C>T (p.Pro384Leu)	DKC1 (P384L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38934	NM_001363.5(DKC1):c.1150C>T (p.Pro384Ser)	DKC1 (P384S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38933	NM_001363.5(DKC1):c.1075G>A (p.Asp359Asn)	DKC1 (D359N)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38932	NM_001363.5(DKC1):c.1050G>A (p.Met350Ile)	DKC1 (M350I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 38931	NM_001363.5(DKC1):c.1049T>C (p.Met350Thr)	DKC1 (M350T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	Gnot provided
Select item 11596	NM_001363.5(DKC1):c.1259+1G>A	DKC1	Single nucleotide variant (synonymous variant +2 more)	Dyskeratosis congenita, X-linked	GPathogenic
Select item 11595	NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala)	DKC1 (T357A)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 11594	NM_001363.5(DKC1):c.91C>A (p.Gln31Lys)	DKC1 (Q31K)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GPathogenic
Select item 11593	NM_001363.5(DKC1):c.113T>C (p.Ile38Thr)	DKC1 (I38T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GPathogenic
Select item 11592	NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)	DKC1 (S121G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 11591	NM_001363.5(DKC1):c.146C>T (p.Thr49Met)	DKC1 (T49M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 11590	NM_001363.5(DKC1):c.16+592C>G	DKC1	Single nucleotide variant (intron variant)	DKC1-related disorder +1 more	GPathogenic
Select item 11588	NC_000023.11:g.(154776372_154776374)_(154778317_154778319)del	DKC1	Deletion	Dyskeratosis congenita, X-linked	GPathogenic
Select item 11587	NM_001363.5(DKC1):c.1058C>T (p.Ala353Val)	DKC1 (A353V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GPathogenic
Select item 11586	NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu)	DKC1 (G402E)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GPathogenic
Select item 11585	NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr)	DKC1 (L72Y)	Indel (missense variant +1 more)	Dyskeratosis congenita, X-linked	GPathogenic
Select item 11584	NM_001363.5(DKC1):c.119C>G (p.Pro40Arg)	DKC1 (P40R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GPathogenic
Select item 11583	NM_001363.5(DKC1):c.109_111del (p.Leu37del)	DKC1 (L37del)	Deletion (inframe_deletion +1 more)	Dyskeratosis congenita	GLikely pathogenic
Select item 11582	NM_001363.5(DKC1):c.106T>G (p.Phe36Val)	DKC1 (F36V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GPathogenic

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: 71