ClinVar for MedGen (Select 11028) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384136	NM_002458.3(MUC5B):c.16861G>T (p.Glu5621Ter)	MUC5B (E5621*)	Single nucleotide variant (nonsense)	Pulmonary fibrosis	GLikely pathogenic
Select item 1695971	NM_020242.3(KIF15):c.673G>A (p.Ala225Thr)	KIF15 (A225T)	Single nucleotide variant (missense variant)	Pulmonary fibrosis	GLikely risk allele
Select item 1695970	NM_020242.3(KIF15):c.409C>T (p.Pro137Ser)	KIF15 (P137S)	Single nucleotide variant (missense variant)	Pulmonary fibrosis	GLikely risk allele
Select item 1695969	NM_020242.3(KIF15):c.362-1G>A	KIF15	Single nucleotide variant (splice acceptor variant)	Pulmonary fibrosis	GLikely risk allele
Select item 1695968	NM_020242.3(KIF15):c.164C>T (p.Ser55Phe)	KIF15 (S55F)	Single nucleotide variant (missense variant)	Pulmonary fibrosis	GLikely risk allele
Select item 1695967	NM_020242.3(KIF15):c.95G>A (p.Arg32Gln)	KIF15 (R32Q)	Single nucleotide variant (missense variant)	Pulmonary fibrosis	GLikely risk allele
Select item 1695966	NM_020242.3(KIF15):c.94C>T (p.Arg32Ter)	KIF15 (R32*)	Single nucleotide variant (nonsense)	Pulmonary fibrosis	GLikely risk allele
Select item 1695965	NC_000003.12:g.169764628C>G	TERC	Single nucleotide variant	Pulmonary fibrosis	GLikely risk allele
Select item 1695964	NC_000003.12:g.169764827G>C	TERC, LOC110806306	Single nucleotide variant	Pulmonary fibrosis	GLikely risk allele
Select item 1695963	NC_000003.12:g.169764627C>A	TERC	Single nucleotide variant	Pulmonary fibrosis	GLikely risk allele
Select item 1695962	NM_001099274.3(TINF2):c.838A>C (p.Lys280Gln)	TINF2 (K245Q +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 1695961	NM_002582.4(PARN):c.781C>T (p.Gln261Ter)	PARN (Q200* +2 more)	Single nucleotide variant (nonsense)	Pulmonary fibrosis	GPathogenic
Select item 1695960	NM_198253.3(TERT):c.228C>A (p.Cys76Ter)	LOC110806263, TERT (C76*)	Single nucleotide variant (nonsense +1 more)	Pulmonary fibrosis	GLikely risk allele
Select item 1695959	NM_198253.3(TERT):c.293C>A (p.Ala98Asp)	TERT (A98D)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1695958	NM_198253.3(TERT):c.377C>A (p.Thr126Lys)	TERT (T126K)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis	GLikely risk allele
Select item 1695957	NM_198253.3(TERT):c.446T>A (p.Leu149Gln)	TERT (L149Q)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis	GLikely risk allele
Select item 1695956	NM_198253.3(TERT):c.1397G>C (p.Arg466Pro)	TERT (R466P)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis	GLikely risk allele
Select item 1695955	NM_198253.3(TERT):c.1710G>T (p.Lys570Asn)	TERT (K570N)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis	GLikely risk allele
Select item 1695954	NM_198253.3(TERT):c.2033C>A (p.Ala678Asp)	TERT (A678D)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis	GLikely risk allele
Select item 1695953	NM_002582.4(PARN):c.656G>A (p.Trp219Ter)	PARN (W158* +2 more)	Single nucleotide variant (nonsense)	Pulmonary fibrosis	GPathogenic
Select item 1695952	NM_198253.3(TERT):c.2398G>A (p.Glu800Lys)	TERT (E800K)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 1695951	NM_198253.3(TERT):c.2431_2433delinsTGT (p.Arg811Cys)	TERT (R811C)	Indel (missense variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GConflicting classifications of pathogenicity
Select item 1695950	NM_198253.3(TERT):c.2473T>C (p.Tyr825His)	TERT (Y825H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 1695949	NM_198253.3(TERT):c.2521C>T (p.Leu841Phe)	TERT (L841F)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis	GLikely risk allele
Select item 1695948	NM_138386.3(NAF1):c.634+1G>T	NAF1	Single nucleotide variant (splice donor variant)	Pulmonary fibrosis	GLikely risk allele
Select item 1695947	NM_198253.3(TERT):c.2621C>G (p.Thr874Arg)	TERT (T874R)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis	GLikely risk allele
Select item 1695946	NM_198253.3(TERT):c.2647T>A (p.Phe883Ile)	TERT (F883I)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis	GLikely risk allele
Select item 1695945	NM_198253.3(TERT):c.2869A>C (p.Ser957Arg)	TERT (S894R +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis	GLikely risk allele
Select item 1695944	NM_138386.3(NAF1):c.701G>C (p.Arg234Pro)	NAF1 (R234P)	Single nucleotide variant (missense variant)	Pulmonary fibrosis	GLikely risk allele
Select item 1695943	NM_198253.3(TERT):c.3202G>A (p.Glu1068Lys)	TERT (E1005K +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis	GLikely risk allele
Select item 1695942	NM_001317778.2(SFTPC):c.304G>A (p.Val102Met)	SFTPC (V102M +1 more)	Single nucleotide variant (missense variant)	Pulmonary fibrosis	GLikely risk allele
Select item 1695941	NM_001317778.2(SFTPC):c.83G>A (p.Cys28Tyr)	SFTPC (C28Y)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis	GLikely risk allele
Select item 1695940	NM_001283009.2(RTEL1):c.1960C>A (p.Pro654Thr)	RTEL1, RTEL1-TNFRSF6B (P431T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis	GLikely risk allele
Select item 1695939	NM_001283009.2(RTEL1):c.699+1G>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice donor variant)	Pulmonary fibrosis	GPathogenic
Select item 1695938	NM_138386.3(NAF1):c.1123C>T (p.Arg375Ter)	NAF1 (R375*)	Single nucleotide variant (nonsense +1 more)	Pulmonary fibrosis +1 more	GConflicting classifications of pathogenicity
Select item 1695937	NM_001283009.2(RTEL1):c.3275T>C (p.Leu1092Pro)	RTEL1, RTEL1-TNFRSF6B (L1092P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 1695936	NM_001283009.2(RTEL1):c.1596-2A>G	RTEL1-TNFRSF6B, RTEL1	Single nucleotide variant (splice acceptor variant)	Pulmonary fibrosis	GPathogenic
Select item 1695935	NM_001363.5(DKC1):c.974A>G (p.Asp325Gly)	DKC1 (D325G)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis	GLikely risk allele
Select item 1695934	NM_002582.4(PARN):c.1318+1G>A	PARN	Single nucleotide variant (splice donor variant)	Pulmonary fibrosis	GLikely risk allele
Select item 1695933	NM_002582.4(PARN):c.1081+1G>A	PARN	Single nucleotide variant (splice donor variant)	Pulmonary fibrosis	GLikely risk allele
Select item 1695932	NM_020242.3(KIF15):c.3158_3159del (p.Leu1052_Ser1053insTer)	KIF15	Deletion (nonsense)	Pulmonary fibrosis	GLikely risk allele
Select item 1695931	NM_020242.3(KIF15):c.1580_1581del (p.Leu527fs)	KIF15 (L527fs)	Deletion (frameshift variant)	Pulmonary fibrosis	GLikely risk allele
Select item 1695930	NM_020242.3(KIF15):c.539_540del (p.Ser180fs)	KIF15 (S180fs)	Microsatellite (frameshift variant)	Pulmonary fibrosis	GLikely risk allele
Select item 1695929	NM_020242.3(KIF15):c.247-1_248del	KIF15	Deletion (splice acceptor variant)	Pulmonary fibrosis	GLikely risk allele
Select item 1695928	NR_001566.3(TERC):n.313_319dup	LOC110806306, TERC	Duplication	Pulmonary fibrosis	GLikely risk allele
Select item 1695927	NM_198253.3(TERT):c.3268_3274del (p.Val1090fs)	TERT (V1027fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary fibrosis	GLikely risk allele
Select item 1695926	NM_001317778.2(SFTPC):c.121_147dup (p.Val49_Ile50insValValValValLeuIleValValVal)	SFTPC	Duplication (inframe_insertion +1 more)	Pulmonary fibrosis	GLikely risk allele
Select item 1695925	NM_002582.4(PARN):c.1355T>C (p.Phe452Ser)	PARN (F391S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1695924	NM_001283009.2(RTEL1):c.2206_2208del (p.Asp736del)	RTEL1, RTEL1-TNFRSF6B (D513del +2 more)	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 1695923	NM_002582.4(PARN):c.751del (p.Arg251fs)	PARN (R190fs +2 more)	Deletion (frameshift variant)	Pulmonary fibrosis	GLikely risk allele
Select item 1695922	NM_002582.4(PARN):c.874del (p.Asp292fs)	PARN (D231fs +2 more)	Deletion (frameshift variant)	Pulmonary fibrosis	GLikely risk allele
Select item 1695921	NM_138386.3(NAF1):c.420GTC[1] (p.Ser145del)	NAF1 (S145del)	Microsatellite (inframe_deletion)	Pulmonary fibrosis	GLikely risk allele
Select item 1695920	NM_001128931.2(NAF1):c.1132dup (p.Thr378fs)	NAF1 (T378fs)	Duplication (frameshift variant)	Pulmonary fibrosis	GLikely risk allele
Select item 1695919	NM_020242.3(KIF15):c.3421-2A>G	KIF15	Single nucleotide variant (splice acceptor variant)	Pulmonary fibrosis	GLikely risk allele
Select item 1695918	NM_001363.5(DKC1):c.851G>A (p.Arg284Gln)	DKC1 (R284Q)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis	GLikely risk allele
Select item 1686801	NM_198253.3(TERT):c.1601A>G (p.His534Arg)	TERT (H534R)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	GLikely pathogenic
Select item 1686800	NM_198253.3(TERT):c.2583-2A>T	TERT	Single nucleotide variant (splice acceptor variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +1 more	GPathogenic/Likely pathogenic
Select item 1489437	NM_198253.3(TERT):c.1895C>T (p.Pro632Leu)	TERT (P632L)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GUncertain significance
Select item 1479677	NC_000003.12:g.169764818G>A	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1345454	NM_002582.4(PARN):c.1405+1G>T	PARN	Single nucleotide variant (splice donor variant)	PARN-related disorder +2 more	GLikely pathogenic
Select item 1331613	NM_198253.3(TERT):c.329G>C (p.Gly110Ala)	TERT (G110A)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 1163653	NM_001283009.2(RTEL1):c.704G>A (p.Arg235His)	RTEL1, RTEL1-TNFRSF6B (R12H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1072324	NM_001283009.2(RTEL1):c.329_332del (p.Ile110fs)	RTEL1, RTEL1-TNFRSF6B (I110fs)	Deletion (non-coding transcript variant +2 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic
Select item 1058722	NM_198253.3(TERT):c.2377G>A (p.Glu793Lys)	TERT (E793K)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 2 +4 more	GUncertain significance
Select item 1018071	NM_001283009.2(RTEL1):c.1877A>G (p.Lys626Arg)	RTEL1, RTEL1-TNFRSF6B (K403R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GUncertain significance
Select item 1013653	NM_198253.3(TERT):c.2912G>A (p.Arg971His)	TERT (R908H +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GConflicting classifications of pathogenicity
Select item 977495	NM_002582.4(PARN):c.1749_1750del (p.Glu585fs)	PARN (E524fs +2 more)	Deletion (frameshift variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 +1 more	GPathogenic/Likely pathogenic
Select item 936588	NM_002582.4(PARN):c.665C>T (p.Pro222Leu)	PARN (P176L +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 933281	NC_000003.12:g.169764879C>G	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 916675	NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)	TERT (R631W)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +4 more	GPathogenic/Likely pathogenic
Select item 916674	NM_198253.3(TERT):c.2812C>T (p.Arg938Trp)	TERT (R938W)	Single nucleotide variant (missense variant +1 more)	Short telomere length +7 more	GLikely pathogenic
Select item 916671	NM_198253.3(TERT):c.230T>C (p.Leu77Pro)	LOC110806263, TERT (L77P)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 862152	NM_198253.3(TERT):c.307_308delinsGG (p.Leu103Gly)	TERT (L103G)	Indel (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GUncertain significance
Select item 850249	NM_198253.3(TERT):c.1603C>T (p.Arg535Cys)	TERT (R535C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 834034	NM_002582.4(PARN):c.1006-11G>A	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 834033	NM_002582.4(PARN):c.459G>C (p.Ala153=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 834032	NM_002582.4(PARN):c.703-11_703-10del	PARN	Deletion (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 834031	NM_002582.4(PARN):c.178-3C>T	PARN	Single nucleotide variant (intron variant)	Familial Interstitial Pneumonia +1 more	GUncertain significance
Select item 834009	NM_002582.4(PARN):c.168G>C (p.Lys56Asn)	PARN (K56N)	Single nucleotide variant (5 prime UTR variant +2 more)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 834008	NM_002582.4(PARN):c.19A>C (p.Asn7His)	PARN (N7H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal recessive 6 +2 more	GUncertain significance
Select item 834007	NM_002582.4(PARN):c.1257del (p.Phe419fs)	PARN (F358fs +2 more)	Deletion (frameshift variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GPathogenic
Select item 834006	NM_002582.4(PARN):c.565G>T (p.Glu189Ter)	PARN (E128* +2 more)	Single nucleotide variant (nonsense)	Familial Interstitial Pneumonia +1 more	GLikely pathogenic
Select item 834005	NM_002582.4(PARN):c.620+5G>A	PARN	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 +2 more	GLikely pathogenic
Select item 834004	NM_002582.4(PARN):c.887_888del (p.Thr296fs)	PARN (T235fs +2 more)	Microsatellite (frameshift variant)	Familial Interstitial Pneumonia +1 more	GLikely pathogenic
Select item 665427	NM_198253.3(TERT):c.416T>G (p.Leu139Arg)	TERT (L139R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 664328	NM_001283009.2(RTEL1):c.1720C>T (p.Arg574Trp)	RTEL1, RTEL1-TNFRSF6B (R351W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 658115	NM_198253.3(TERT):c.3187G>A (p.Gly1063Ser)	TERT (G1063S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 653732	NM_198253.3(TERT):c.2105C>T (p.Pro702Leu)	TERT (P702L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 651706	NC_000003.12:g.169764995G>T	LOC110806306, TERC	Single nucleotide variant	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 650549	NM_198253.3(TERT):c.127G>A (p.Asp43Asn)	LOC110806263, TERT (D43N)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 640742	NM_002582.4(PARN):c.1493G>A (p.Ser498Asn)	PARN (S498N +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +2 more	GUncertain significance
Select item 639452	NM_198253.3(TERT):c.999CTC[1] (p.Ser335del)	TERT (S335del)	Microsatellite (inframe_deletion +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GConflicting classifications of pathogenicity
Select item 567981	NM_198253.3(TERT):c.83T>G (p.Val28Gly)	LOC110806263, TERT (V28G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 555385	NM_001283009.2(RTEL1):c.2063C>G (p.Ser688Cys)	RTEL1, RTEL1-TNFRSF6B (S688C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GUncertain significance
Select item 553611	NM_001283009.2(RTEL1):c.1940C>T (p.Pro647Leu)	RTEL1, RTEL1-TNFRSF6B (P671L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 539210	NM_198253.3(TERT):c.2775C>A (p.His925Gln)	TERT (H925Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 539192	NM_198253.3(TERT):c.1048_1049del (p.Leu350fs)	TERT (L350fs)	Microsatellite (frameshift variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GPathogenic
Select item 523957	NM_198253.3(TERT):c.2991del (p.Cys998fs)	TERT (C935fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 471871	NM_198253.3(TERT):c.2581G>A (p.Gly861Arg)	TERT (G861R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 471850	NM_198253.3(TERT):c.2081T>A (p.Val694Glu)	TERT (V694E)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance

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