ClinVar for MedGen (Select 1794136) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065446	NM_002458.3(MUC5B):c.9339CAC[1] (p.Thr3116del)	MUC5B, MUC5B-AS1 (T3116del)	Microsatellite (inframe_deletion)	Interstitial lung disease 2	GUncertain significance
Select item 2235091	NM_002458.3(MUC5B):c.6874C>T (p.Arg2292Cys)	MUC5B, MUC5B-AS1 (R2292C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1705918	NM_001079668.3(NKX2-1):c.532G>A (p.Asp178Asn)	NKX2-1, SFTA3 (D148N +1 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GUncertain significance
Select item 1705917	NM_001079668.3(NKX2-1):c.396C>A (p.Asp132Glu)	NKX2-1, SFTA3 (D102E +1 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GUncertain significance
Select item 1705916	NM_001079668.3(NKX2-1):c.67G>C (p.Gly23Arg)	NKX2-1, NKX2-1-AS1 (G23R)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GUncertain significance
Select item 1705915	NM_001098668.4(SFTPA2):c.656G>T (p.Arg219Leu)	SFTPA2 (R219L +1 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GUncertain significance
Select item 1705914	NM_001098668.4(SFTPA2):c.557A>G (p.Tyr186Cys)	SFTPA2 (Y186C +1 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GLikely pathogenic
Select item 1705913	NM_001098668.4(SFTPA2):c.530T>A (p.Phe177Tyr)	SFTPA2 (F177Y +1 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GUncertain significance
Select item 1705912	NM_001089.3(ABCA3):c.4797G>C (p.Gln1599His)	ABCA3 (Q1599H)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GUncertain significance
Select item 1705911	NM_001089.3(ABCA3):c.4451G>A (p.Arg1484Gln)	ABCA3 (R1484Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1705910	NM_001089.3(ABCA3):c.3977C>A (p.Thr1326Asn)	ABCA3 (T1326N)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +1 more	GConflicting classifications of pathogenicity
Select item 1705909	NM_001098668.4(SFTPA2):c.460G>C (p.Ala154Pro)	SFTPA2 (A154P +1 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2 +1 more	GConflicting classifications of pathogenicity
Select item 1705908	NM_001089.3(ABCA3):c.2200G>A (p.Ala734Thr)	ABCA3 (A734T)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GUncertain significance
Select item 1705907	NM_001089.3(ABCA3):c.1819A>G (p.Ser607Gly)	ABCA3 (S607G)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GUncertain significance
Select item 1705906	NM_001089.3(ABCA3):c.1780G>A (p.Gly594Arg)	ABCA3 (G594R)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GUncertain significance
Select item 1705905	NM_001089.3(ABCA3):c.1432T>C (p.Phe478Leu)	ABCA3 (F478L)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +1 more	GUncertain significance
Select item 1705904	NM_001089.3(ABCA3):c.59G>T (p.Arg20Leu)	ABCA3 (R20L)	Single nucleotide variant (missense variant)	Interstitial lung disease 2 +1 more	GConflicting classifications of pathogenicity
Select item 1705903	NM_001079668.3(NKX2-1):c.781C>A (p.Gln261Lys)	NKX2-1, SFTA3 (Q231K +1 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GUncertain significance
Select item 1705902	NM_001079668.3(NKX2-1):c.631A>G (p.Lys211Glu)	NKX2-1, SFTA3 (K181E +1 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2 +1 more	GUncertain significance
Select item 1705901	NM_005411.5(SFTPA1):c.656G>T (p.Arg219Leu)	SFTPA1 (R170L +3 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GUncertain significance
Select item 1704398	NM_001098668.4(SFTPA2):c.676G>A (p.Glu226Lys)	SFTPA2 (E226K +1 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GUncertain significance
Select item 1544724	NM_198253.3(TERT):c.375C>T (p.Asn125=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +8 more	GLikely benign
Select item 1412183	NM_198253.3(TERT):c.1070C>G (p.Ala357Gly)	TERT (A357G)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GUncertain significance
Select item 1390895	NM_198253.3(TERT):c.124G>C (p.Gly42Arg)	LOC110806263, TERT (G42R)	Single nucleotide variant (missense variant +1 more)	Aplastic anemia +7 more	GUncertain significance
Select item 1332949	NM_001098668.4(SFTPA2):c.292+21G>A	SFTPA2	Single nucleotide variant (intron variant)	Interstitial lung disease 2 +1 more	GBenign
Select item 1325405	NM_001098668.4(SFTPA2):c.697T>A (p.Trp233Arg)	SFTPA2 (W233R +1 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GPathogenic
Select item 1322020	NM_001098668.4(SFTPA2):c.512A>T (p.Asn171Ile)	SFTPA2 (N171I +1 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GPathogenic
Select item 1247340	NM_001098668.4(SFTPA2):c.-23-5G>A	SFTPA2	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GBenign
Select item 1162781	NM_019009.4(TOLLIP):c.184-1067G>C	TOLLIP	Single nucleotide variant (intron variant)	Chronic obstructive pulmonary disease +3 more	GUncertain significance; association
Select item 1162780	NM_019009.4(TOLLIP):c.33+4867A>G	TOLLIP	Single nucleotide variant (intron variant)	Chronic obstructive pulmonary disease +1 more	GUncertain significance
Select item 1162779	NM_014883.4(FAM13A):c.843+16335C>A	FAM13A	Single nucleotide variant (intron variant)	Chronic obstructive pulmonary disease +3 more	GUncertain significance; association
Select item 1074267	NC_000005.9:g.(?_1253843)_(1297488_?)del	TERT	Deletion	Interstitial lung disease 2 +1 more	GPathogenic
Select item 1065526	NM_002458.3(MUC5B):c.2041A>G (p.Ser681Gly)	MUC5B (S681G)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GLikely benign
Select item 1065525	NM_002458.3(MUC5B):c.2045A>G (p.Asp682Gly)	MUC5B (D682G)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GLikely benign
Select item 1064384	NC_000005.9:g.(?_1253843)_(1272405_?)dup	TERT	Duplication	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 1050775	NM_002458.3(MUC5B):c.13164G>T (p.Thr4388=)	MUC5B	Single nucleotide variant (synonymous variant)	Interstitial lung disease 2	GUncertain significance
Select item 1033925	NM_002458.3(MUC5B):c.9849G>A (p.Thr3283=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	Interstitial lung disease 2	GUncertain significance
Select item 1033924	NM_002458.3(MUC5B):c.9355A>G (p.Thr3119Ala)	MUC5B, MUC5B-AS1 (T3119A)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GUncertain significance
Select item 1033923	NM_002458.3(MUC5B):c.9005C>A (p.Thr3002Lys)	MUC5B-AS1, MUC5B (T3002K)	Single nucleotide variant (missense variant)	Interstitial lung disease 2 +1 more	GConflicting classifications of pathogenicity
Select item 1030558	NM_002458.3(MUC5B):c.9385C>T (p.Pro3129Ser)	MUC5B, MUC5B-AS1 (P3129S)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GUncertain significance
Select item 1030557	NM_002458.3(MUC5B):c.2725G>A (p.Asp909Asn)	MUC5B (D909N)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GUncertain significance
Select item 1025595	NC_000005.9:g.(?_1253843)_(1258784_?)dup	TERT	Duplication	Interstitial lung disease 2 +1 more	GUncertain significance
Select item 1000793	NC_000005.9:g.(?_1253843)_(1297488_?)dup	TERT	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 985062	NM_001098668.4(SFTPA2):c.532G>A (p.Val178Met)	SFTPA2 (V178M +1 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2 +2 more	GConflicting classifications of pathogenicity
Select item 970903	NM_198253.3(TERT):c.1639T>G (p.Trp547Gly)	TERT (W547G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 965951	NM_198253.3(TERT):c.638C>T (p.Pro213Leu)	TERT (P213L)	Single nucleotide variant (missense variant +1 more)	Interstitial lung disease 2 +1 more	GUncertain significance
Select item 963400	NM_198253.3(TERT):c.2525G>A (p.Cys842Tyr)	TERT (C842Y)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 951456	NM_198253.3(TERT):c.3256C>G (p.Arg1086Gly)	TERT (R1023G +1 more)	Single nucleotide variant (missense variant +1 more)	Interstitial lung disease 2 +1 more	GUncertain significance
Select item 934335	NM_198253.3(TERT):c.285C>A (p.Asn95Lys)	TERT (N95K)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 915845	NM_001089.3(ABCA3):c.4885dup (p.Ala1629fs)	ABCA3 (A1629fs)	Duplication (frameshift variant)	Interstitial lung disease 2	GLikely pathogenic
Select item 915844	NM_001089.3(ABCA3):c.2883C>T (p.Gly961=)	ABCA3	Single nucleotide variant (synonymous variant)	Interstitial lung disease 2 +1 more	GLikely pathogenic
Select item 911270	NM_001317778.2(SFTPC):c.445G>T (p.Ala149Ser)	SFTPC (A149S +2 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2 +1 more	GUncertain significance
Select item 911206	NM_001317778.2(SFTPC):c.157G>A (p.Ala53Thr)	SFTPC (A53T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 909348	NM_001317778.2(SFTPC):c.*186G>A	SFTPC	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease 2 +1 more	GUncertain significance
Select item 909206	NM_001317778.2(SFTPC):c.68G>A (p.Arg23Gln)	SFTPC (R23Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 908497	NM_001317778.2(SFTPC):c.*171G>A	SFTPC	Single nucleotide variant (3 prime UTR variant)	Surfactant metabolism dysfunction, pulmonary, 2 +1 more	GLikely benign
Select item 908426	NM_001317778.2(SFTPC):c.303C>T (p.Leu101=)	SFTPC	Single nucleotide variant (synonymous variant)	Interstitial lung disease 2 +1 more	GBenign
Select item 908425	NM_001317778.2(SFTPC):c.237G>A (p.Gln79=)	SFTPC	Single nucleotide variant (synonymous variant)	Surfactant metabolism dysfunction, pulmonary, 2 +1 more	GUncertain significance
Select item 906428	NM_198253.3(TERT):c.764C>A (p.Ser255Tyr)	TERT (S255Y)	Single nucleotide variant (missense variant +1 more)	Interstitial lung disease 2 +8 more	GUncertain significance
Select item 886471	NM_001089.3(ABCA3):c.2857G>A (p.Asp953Asn)	ABCA3 (D953N)	Single nucleotide variant (missense variant)	Interstitial lung disease 2 +3 more	GConflicting classifications of pathogenicity
Select item 885895	NM_001089.3(ABCA3):c.2172C>G (p.Asp724Glu)	ABCA3 (D724E)	Single nucleotide variant (missense variant)	Interstitial lung disease 2 +3 more	GConflicting classifications of pathogenicity
Select item 847848	NM_198253.3(TERT):c.847A>C (p.Thr283Pro)	TERT (T283P)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +8 more	GUncertain significance
Select item 843002	NM_198253.3(TERT):c.1434G>A (p.Trp478Ter)	TERT (W478*)	Single nucleotide variant (nonsense +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GPathogenic
Select item 841410	NM_198253.3(TERT):c.981G>T (p.Glu327Asp)	TERT (E327D)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 836202	NM_198253.3(TERT):c.2851C>T (p.Arg951Trp)	TERT (R888W +1 more)	Single nucleotide variant (missense variant +1 more)	Interstitial lung disease 2 +4 more	GConflicting classifications of pathogenicity
Select item 833372	NC_000005.10:g.(?_1253728)_(1255421_?)dup	TERT	Duplication	Dyskeratosis congenita, autosomal dominant 2 +2 more	GUncertain significance
Select item 831918	NC_000005.10:g.(?_218349)_(1297373_?)del	AHRR, BRD9 +15 more	Deletion	Dyskeratosis congenita, autosomal dominant 2 +1 more	GPathogenic
Select item 831896	NC_000005.10:g.(?_1253708)_(1258679_?)dup	TERT	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 831477	NC_000005.10:g.(?_1253708)_(1272300_?)dup	TERT	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 831255	NC_000005.10:g.(?_218346)_(1295046_?)del	CEP72, AHRR +15 more	Deletion	Dyskeratosis congenita, autosomal dominant 2 +1 more	GPathogenic
Select item 830662	NC_000005.10:g.(?_218349)_(1297373_?)dup	AHRR, BRD9 +15 more	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 802394	NM_001317778.2(SFTPC):c.316T>C (p.Tyr106His)	SFTPC (Y106H +1 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GLikely pathogenic
Select item 798995	NM_198253.3(TERT):c.462A>G (p.Ala154=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 795593	NM_198253.3(TERT):c.684C>T (p.Ala228=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 793982	NM_198253.3(TERT):c.1425A>C (p.Pro475=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Interstitial lung disease 2 +2 more	GLikely benign
Select item 772020	NM_198253.3(TERT):c.2451C>T (p.Ala817=)	TERT	Single nucleotide variant (synonymous variant)	Interstitial lung disease 2 +1 more	GLikely benign
Select item 767168	NM_198253.3(TERT):c.750C>G (p.Pro250=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Interstitial lung disease 2 +2 more	GLikely benign
Select item 767094	NM_198253.3(TERT):c.1242G>A (p.Pro414=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Interstitial lung disease 2 +2 more	GLikely benign
Select item 759269	NM_198253.3(TERT):c.3042A>T (p.Ala1014=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GConflicting classifications of pathogenicity
Select item 758712	NM_198253.3(TERT):c.1110C>G (p.Pro370=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +8 more	GLikely benign
Select item 755487	NM_198253.3(TERT):c.3324G>C (p.Pro1108=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 754889	NM_198253.3(TERT):c.3012C>T (p.Ile1004=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +2 more	GLikely benign
Select item 753586	NM_198253.3(TERT):c.3000C>T (p.Asn1000=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 740762	NM_198253.3(TERT):c.474C>A (p.Leu158=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 720685	NM_002458.3(MUC5B):c.16859C>T (p.Ala5620Val)	MUC5B (A5620V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 706780	NM_198253.3(TERT):c.2971-10G>C	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 703814	NM_198253.3(TERT):c.438C>T (p.Asp146=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 702515	NM_198253.3(TERT):c.2796C>A (p.Gly932=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GLikely benign
Select item 700593	NM_198253.3(TERT):c.3296-7C>T	TERT	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GLikely benign
Select item 689445	NM_001089.3(ABCA3):c.1913G>A (p.Arg638His)	ABCA3 (R638H)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency +1 more	GUncertain significance
Select item 672128	NM_004415.4(DSP):c.726+219T>G	DSP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 666220	NC_000005.9:g.(?_1253833)_(1258784_?)dup	TERT	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 665035	NC_000005.9:g.(?_1253833)_(1255536_?)dup	TERT	Duplication	Idiopathic Pulmonary Fibrosis +2 more	GUncertain significance
Select item 660150	NC_000005.9:g.(?_1253833)_(1272405_?)dup	TERT	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 654090	NC_000005.9:g.(?_1293418)_(1295161_?)dup	LOC110806263, TERT	Duplication	Interstitial lung disease 2 +1 more	GUncertain significance
Select item 654089	NC_000005.9:g.(?_1253833)_(1253956_?)dup	TERT	Duplication	Interstitial lung disease 2 +1 more	GUncertain significance
Select item 643928	NM_198253.3(TERT):c.3229G>C (p.Ala1077Pro)	TERT (A1014P +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 642636	NC_000005.9:g.(?_1253833)_(1295114_?)dup	LOC110806263, LOC110806264 +2 more	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 639956	NM_198253.3(TERT):c.895G>A (p.Val299Met)	TERT (V299M)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +8 more	GConflicting classifications of pathogenicity
Select item 619212	NM_001098668.4(SFTPA2):c.253C>T (p.Arg85Cys)	SFTPA2 (R85C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity

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