ClinVar for PubMed (Select 21520333) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3010117	NM_000548.5(TSC2):c.3202A>G (p.Thr1068Ala)	TSC2 (T1005A +25 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis 2	GUncertain significance
Select item 2923756	NM_000089.4(COL1A2):c.2295+1G>A	COL1A2	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2885799	NM_001042492.3(NF1):c.3763C>G (p.Gln1255Glu)	NF1 (Q1255E)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 2870310	NM_001048174.2(MUTYH):c.242G>T (p.Arg81Leu)	MUTYH (R106L +8 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2	GUncertain significance
Select item 2821334	NM_001042492.3(NF1):c.1646T>G (p.Leu549Arg)	NF1 (L549R)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GPathogenic
Select item 2769781	NM_001042492.3(NF1):c.3595A>C (p.Thr1199Pro)	NF1 (T1199P)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 2763795	NM_001042492.3(NF1):c.2850G>T (p.Gln950His)	NF1 (Q950H)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 2736521	NM_001042492.3(NF1):c.2026del (p.Thr676fs)	NF1 (T676fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 2700776	NM_170707.4(LMNA):c.1660del (p.Glu554fs)	LMNA (E368fs +5 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 2697196	NM_001100.4(ACTA1):c.284A>G (p.Glu95Gly)	ACTA1 (E95G)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2681828	NM_000059.4(BRCA2):c.4519C>T (p.Gln1507Ter)	BRCA2 (Q1507*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 2424819	NC_000023.10:g.(?_32536105)_(33229429_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 2423305	NC_000016.9:g.(?_2127829)_(2134379_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2423293	NC_000016.9:g.(?_2106177)_(2142622_?)del	MIR1225, PKD1 +1 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 2422875	NC_000013.10:g.(?_48951044)_(48955589_?)del	RB1	Deletion	Retinoblastoma	GPathogenic
Select item 2202857	NM_170707.4(LMNA):c.115A>G (p.Asn39Asp)	LMNA (N39D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 2188390	NM_000321.3(RB1):c.539+1G>C	RB1	Single nucleotide variant (splice donor variant)	Retinoblastoma	GLikely pathogenic
Select item 2117893	NM_000548.5(TSC2):c.5196_5199del (p.Thr1733fs)	TSC2 (T1489fs +10 more)	Deletion (frameshift variant)	Tuberous sclerosis 2	GPathogenic
Select item 2107068	NM_000548.5(TSC2):c.1443+2T>C	TSC2	Single nucleotide variant (splice donor variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2093953	NM_000474.4(TWIST1):c.347G>C (p.Arg116Pro)	TWIST1 (R116P)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +1 more	GPathogenic
Select item 2083152	NM_000548.5(TSC2):c.4903_4917del (p.Cys1635_Arg1639del)	TSC2	Deletion (inframe_deletion +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 2032747	NM_000548.5(TSC2):c.4951A>C (p.Asn1651His)	TSC2 (N1137H +34 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GLikely pathogenic
Select item 2029187	NM_001042492.3(NF1):c.1138C>G (p.Leu380Val)	NF1 (L380V)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 1910328	NM_001042492.3(NF1):c.1378A>G (p.Ile460Val)	NF1 (I460V)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 1780893	NM_000251.3(MSH2):c.1829A>C (p.His610Pro)	MSH2 (H470P +8 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1518853	NM_000089.4(COL1A2):c.792G>C (p.Lys264Asn)	COL1A2 (K264N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely pathogenic
Select item 1517490	NM_000179.3(MSH6):c.1A>G (p.Met1Val)	MSH6 (M1V)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic
Select item 1500700	NM_152594.3(SPRED1):c.270C>G (p.His90Gln)	SPRED1 (H90Q)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 1490108	NM_000548.5(TSC2):c.4936G>T (p.Val1646Leu)	TSC2 (V1543L +9 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GLikely pathogenic
Select item 1489018	NM_004006.3(DMD):c.7018C>A (p.Leu2340Met)	DMD (L2332M +5 more)	Single nucleotide variant (missense variant +1 more)	Duchenne muscular dystrophy	GUncertain significance
Select item 1484812	NM_001042492.3(NF1):c.5609+3A>T	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 1466972	NM_000059.4(BRCA2):c.6938-1G>T	BRCA2	Single nucleotide variant (splice acceptor variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 1464025	NM_000321.3(RB1):c.1102G>A (p.Val368Ile)	RB1 (V368I)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 1460317	NC_000023.10:g.(?_32328189)_(32408308_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 1460087	NC_000023.10:g.(?_32429849)_(32841524_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 1458256	NC_000023.10:g.(?_32466553)_(32867957_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 1457074	NM_000474.4(TWIST1):c.395_415dup (p.Arg132_Leu138dup)	TWIST1	Duplication (inframe_insertion +1 more)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 1456641	NM_000038.6(APC):c.6189_6190del (p.His2063fs)	APC (H1903fs +12 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1455784	NC_000023.10:g.(?_32360197)_(32663289_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 1454585	NM_001042492.3(NF1):c.94dup (p.Thr32fs)	NF1 (T32fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1454297	NM_000321.3(RB1):c.118G>T (p.Glu40Ter)	RB1 (E40*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 1453464	NM_000548.5(TSC2):c.1258-96_1362del	TSC2	Deletion (splice acceptor variant +1 more)	Tuberous sclerosis 2	GPathogenic
Select item 1445783	NC_000023.10:g.(?_32235023)_(32430336_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 1433454	NM_000548.5(TSC2):c.5347G>T (p.Glu1783Ter)	TSC2 (E1539* +10 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 2	GUncertain significance
Select item 1431729	NM_000546.6(TP53):c.810T>A (p.Phe270Leu)	TP53 (F111L +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1428673	NM_000321.3(RB1):c.1A>T (p.Met1Leu)	RB1 (M1L)	Single nucleotide variant (missense variant +1 more)	Retinoblastoma	GUncertain significance
Select item 1421501	NM_001042492.3(NF1):c.7158dup (p.Asn2387Ter)	NF1 (N2387* +1 more)	Duplication (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 1414805	NC_000023.10:g.(?_32235023)_(32366860_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 1407774	NM_005055.5(RAPSN):c.538G>A (p.Glu180Lys)	RAPSN (E180K)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 1404003	NM_004006.3(DMD):c.4299_4306dup (p.Ala1436fs)	DMD (A1428fs +5 more)	Duplication (frameshift variant)	Duchenne muscular dystrophy	GPathogenic
Select item 1390361	NM_000548.5(TSC2):c.4509G>C (p.Gln1503His)	TSC2 (Q1259H +9 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GUncertain significance
Select item 1383029	NM_001042492.3(NF1):c.1721+3A>C	NF1 (Y575S)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 1	GPathogenic
Select item 1365650	NM_000249.4(MLH1):c.74T>C (p.Ile25Thr)	MLH1 (I25T)	Single nucleotide variant (missense variant +1 more)	MLH1-related condition +2 more	GUncertain significance
Select item 1362329	NM_000368.5(TSC1):c.2304dup (p.Asp769Ter)	TSC1 (D768* +3 more)	Duplication (nonsense)	Tuberous sclerosis 1	GPathogenic
Select item 1362008	NM_003000.3(SDHB):c.202T>C (p.Cys68Arg)	SDHB (C68R)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 1301379	NM_001267550.2(TTN):c.19715-1G>A	LOC126806429, TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 1284657	NM_170707.4(LMNA):c.1786_1800del (p.Asp596_Ala600del)	LMNA	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1076699	NM_001042492.3(NF1):c.1002del (p.Asn335fs)	NF1 (N335fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1076299	NM_000548.5(TSC2):c.1948G>T (p.Glu650Ter)	TSC2 (E450* +4 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 2	GPathogenic
Select item 1075731	NC_000023.10:g.(?_32360207)_(32404592_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 1074044	NM_000321.3(RB1):c.1572del (p.Ala525fs)	RB1 (A525fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 1073801	NM_001042492.3(NF1):c.5262_5268del (p.Ile1755fs)	NF1 (I1734fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1073380	NM_001042492.3(NF1):c.4695del (p.Ser1566fs)	NF1 (S1545fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1073182	NC_000016.9:g.(?_2115510)_(2115646_?)del	TSC2	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1072961	NM_000321.3(RB1):c.100G>T (p.Glu34Ter)	RB1 (E34*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 1072655	NM_001042492.3(NF1):c.818del (p.Leu273fs)	NF1 (L273fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1072046	NM_004006.3(DMD):c.6677G>A (p.Trp2226Ter)	DMD (W2103* +5 more)	Single nucleotide variant (nonsense +1 more)	Duchenne muscular dystrophy	GPathogenic
Select item 1071709	NC_000023.10:g.(?_32583809)_(32867947_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 1071638	NM_000059.4(BRCA2):c.8487+2T>A	BRCA2	Single nucleotide variant (splice donor variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 1071425	NM_000321.3(RB1):c.1332G>A (p.Gln444=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GPathogenic
Select item 1070093	NM_000059.4(BRCA2):c.8857G>T (p.Glu2953Ter)	BRCA2 (E2953*)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 1070054	NM_004006.3(DMD):c.2994T>A (p.Tyr998Ter)	DMD (Y875* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GPathogenic
Select item 1069847	NC_000023.10:g.(?_32429859)_(32862987_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 1069569	NC_000023.10:g.(?_32328189)_(32503226_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 1069198	NM_000321.3(RB1):c.1166dup (p.Leu389fs)	RB1 (L389fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 1067980	NM_000059.4(BRCA2):c.-39-1G>C	BRCA2	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1067707	NM_004006.3(DMD):c.831G>C (p.Gln277His)	DMD (Q154H +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 1066467	NM_001042492.3(NF1):c.7001G>A (p.Gly2334Asp)	NF1 (G2313D +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 1065970	NM_173660.5(DOK7):c.332-1G>T	DOK7	Single nucleotide variant (splice acceptor variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely pathogenic
Select item 1063261	NM_000243.3(MEFV):c.56A>G (p.Tyr19Cys)	MEFV (Y19C)	Single nucleotide variant (missense variant)	Familial Mediterranean fever	GUncertain significance
Select item 1062571	NM_001267550.2(TTN):c.46697-1G>T	TTN, TTN-AS1	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1061999	NM_000249.4(MLH1):c.1855G>T (p.Ala619Ser)	MLH1 (A261S +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1061637	NM_001042492.3(NF1):c.7062+6C>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 1060232	NM_000179.3(MSH6):c.1677C>G (p.Cys559Trp)	MSH6 (C257W +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 1059375	NM_000059.4(BRCA2):c.8736_8744del (p.Asp2913_Ala2915del)	BRCA2	Deletion (inframe_deletion)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1058429	NM_000548.5(TSC2):c.1600-9_1600-5del	TSC2	Deletion (intron variant)	Tuberous sclerosis 2	GUncertain significance
Select item 1055992	NM_000548.5(TSC2):c.2518G>A (p.Ala840Thr)	TSC2 (A640T +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +1 more	GUncertain significance
Select item 1055364	NM_000548.5(TSC2):c.2617C>G (p.Leu873Val)	TSC2 (L673V +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GUncertain significance
Select item 1054658	NM_007294.4(BRCA1):c.3533G>T (p.Ser1178Ile)	LOC126862571, BRCA1 (S1131I +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1054549	NM_207122.2(EXT2):c.1412G>A (p.Arg471Gln)	EXT2, LOC126861201 (R471Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1051751	NM_004006.3(DMD):c.6323G>A (p.Arg2108His)	DMD (R1985H +5 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +1 more	GUncertain significance
Select item 1051099	NM_000535.7(PMS2):c.545C>T (p.Ala182Val)	PMS2 (A182V +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1051008	NM_000251.3(MSH2):c.1811C>G (p.Ala604Gly)	MSH2 (A538G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1048740	NM_001042492.3(NF1):c.7000G>C (p.Gly2334Arg)	NF1 (G2313R +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 1048733	NM_001042492.3(NF1):c.6591del (p.Phe2197fs)	NF1 (F2176fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1047494	NM_000432.4(MYL2):c.454T>G (p.Tyr152Asp)	MYL2 (Y152D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 10	GUncertain significance
Select item 1047042	NM_006073.4(TRDN):c.52G>C (p.Asp18His)	TRDN (D18H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1042872	NM_000548.5(TSC2):c.3179G>C (p.Trp1060Ser)	TSC2 (W1017S +6 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GUncertain significance
Select item 1042860	NM_007294.4(BRCA1):c.3959C>G (p.Ser1320Cys)	BRCA1, LOC126862571 (S1273C +21 more)	Single nucleotide variant (intron variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1042364	NM_000059.4(BRCA2):c.8738A>G (p.Asp2913Gly)	BRCA2 (D2913G)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance

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