ClinVar for MedGen (Select 98104) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220906	NM_000083.3:c.[742A>T];[2680C>T]			Congenital myotonia, autosomal recessive form	GPathogenic
Select item 2575079	NM_130837.3(OPA1):c.1254A>G (p.Ile418Met)	OPA1 (I239M +9 more)	Single nucleotide variant (missense variant)	Tip-toe gait	GLikely pathogenic
Select item 2575078	NM_170606.3(KMT2C):c.2571C>T (p.Ser857=)	KMT2C	Single nucleotide variant (synonymous variant)	Tip-toe gait	GLikely pathogenic
Select item 2574703	NM_006158.5(NEFL):c.400C>T (p.Arg134Cys)	NEFL (R134C)	Single nucleotide variant (missense variant)	Tip-toe gait	GLikely pathogenic
Select item 2574681	NM_000530.8(MPZ):c.476G>C (p.Gly159Ala)	MPZ (G159A)	Single nucleotide variant (missense variant)	Tip-toe gait	GLikely pathogenic
Select item 2574637	NM_004369.4(COL6A3):c.9234del (p.Lys3078fs)	COL6A3 (K2471fs +2 more)	Deletion (frameshift variant)	Tip-toe gait	GLikely pathogenic
Select item 2574636	NM_000263.4(NAGLU):c.1355A>C (p.Glu452Ala)	NAGLU (E452A)	Single nucleotide variant (missense variant)	Tip-toe gait	GLikely pathogenic
Select item 2574631	NM_001267550.2(TTN):c.39043+2T>G	TTN	Single nucleotide variant (intron variant +1 more)	Tip-toe gait	GLikely pathogenic
Select item 2574630	NM_002972.4(SBF1):c.1783C>T (p.Arg595Ter)	SBF1 (R595* +1 more)	Single nucleotide variant (nonsense)	Tip-toe gait	GLikely pathogenic
Select item 2574624	NM_005609.4(PYGM):c.576G>T (p.Lys192Asn)	PYGM (K104N +1 more)	Single nucleotide variant (missense variant)	Tip-toe gait	GLikely pathogenic
Select item 2574623	NM_001849.4(COL6A2):c.2220_2222del (p.Asp741del)	COL6A2 (D741del)	Deletion (inframe_indel +1 more)	Tip-toe gait	GLikely pathogenic
Select item 2574619	NM_020919.4(ALS2):c.4670A>G (p.Glu1557Gly)	ALS2 (E1556G +1 more)	Single nucleotide variant (missense variant)	Tip-toe gait	GLikely pathogenic
Select item 2574609	NM_005609.4(PYGM):c.1727G>A (p.Arg576Gln)	PYGM (R488Q +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 2574608	NM_000263.4(NAGLU):c.1744G>T (p.Ala582Ser)	NAGLU (A582S)	Single nucleotide variant (missense variant)	Tip-toe gait	GLikely pathogenic
Select item 2574607	NM_000083.3(CLCN1):c.2632G>A (p.Val878Met)	CLCN1 (V878M)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait	GLikely pathogenic
Select item 2574606	NM_181882.3(PRX):c.185-1G>C	PRX	Single nucleotide variant (splice acceptor variant)	Tip-toe gait	GLikely pathogenic
Select item 2170869	NM_000083.3(CLCN1):c.442T>C (p.Trp148Arg)	CLCN1 (W148R)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 2049232	NM_005609.4(PYGM):c.1274G>A (p.Arg425Gln)	PYGM (R425Q +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 1937406	NM_030973.4(MED25):c.1518_1519del (p.Cys506_Glu507delinsTer)	MED25	Microsatellite (nonsense +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1698500	NM_002693.3(POLG):c.[1760C>T;752C>T]	POLG, POLGARF (T251I +1 more)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +1 more	GPathogenic
Select item 1679943	NM_000080.4(CHRNE):c.346A>G (p.Ile116Val)	C17orf107, CHRNE (I116V)	Single nucleotide variant (3 prime UTR variant +1 more)	Tip-toe gait	GLikely pathogenic
Select item 1679942	NM_001267550.2(TTN):c.10603G>A (p.Gly3535Arg)	TTN (G3489R +1 more)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait	GLikely pathogenic
Select item 1679941	NM_170606.3(KMT2C):c.12433C>T (p.Arg4145Cys)	KMT2C (R4145C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1679940	NM_004977.3(KCNC3):c.2077A>C (p.Ile693Leu)	KCNC3 (I617L +1 more)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait	GLikely pathogenic
Select item 1679901	NM_170606.3(KMT2C):c.12239T>C (p.Ile4080Thr)	KMT2C (I4080T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1679816	NM_000051.4(ATM):c.1444A>T (p.Lys482Ter)	ATM (K482*)	Single nucleotide variant (nonsense)	Tip-toe gait	GLikely pathogenic, low penetrance
Select item 1679808	NM_001372574.1(ATXN2):c.1526C>T (p.Ser509Leu)	ATXN2 (S380L +2 more)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait	GLikely pathogenic, low penetrance
Select item 1679217	NM_001267550.2(TTN):c.68786C>T (p.Ser22929Leu)	TTN, TTN-AS1 (S13864L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679195	NM_001267550.2(TTN):c.41467C>G (p.Pro13823Ala)	TTN (P11255A +5 more)	Single nucleotide variant (missense variant)	Tip-toe gait	GLikely pathogenic
Select item 1679171	NM_021625.5(TRPV4):c.710G>A (p.Arg237Gln)	TRPV4 (R203Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely pathogenic
Select item 1679098	NM_001267550.2(TTN):c.78215G>A (p.Gly26072Asp)	TTN, TTN-AS1 (G17007D +5 more)	Single nucleotide variant (missense variant)	Tip-toe gait	GLikely pathogenic
Select item 1679097	NM_170606.3(KMT2C):c.12167A>G (p.Lys4056Arg)	KMT2C (K4056R)	Single nucleotide variant (missense variant)	Tip-toe gait	GLikely pathogenic
Select item 1679096	NM_015346.4(ZFYVE26):c.611T>C (p.Leu204Ser)	ZFYVE26 (L204S)	Single nucleotide variant (missense variant)	Tip-toe gait	GLikely pathogenic
Select item 1679095	NM_001267550.2(TTN):c.29870C>T (p.Thr9957Ile)	TTN (T8713I +2 more)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait	GLikely pathogenic
Select item 1678656	NM_007118.4(TRIO):c.1337T>C (p.Met446Thr)	TRIO (M446T)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait	GLikely pathogenic
Select item 1678655	NM_001128164.2(ATXN1):c.772G>T (p.Gly258Cys)	ATXN1 (G258C)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 1 +1 more	GBenign
Select item 1678654	NM_001267550.2(TTN):c.16160G>A (p.Arg5387Lys)	TTN (R4143K +2 more)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait	GLikely pathogenic
Select item 1678541	NM_007118.4(TRIO):c.7379C>T (p.Pro2460Leu)	TRIO (P2460L)	Single nucleotide variant (missense variant)	Tip-toe gait	GLikely pathogenic
Select item 1676280	NM_001377405.1(ATXN7):c.2119C>A (p.Arg707Ser)	ATXN7 (R562S +1 more)	Single nucleotide variant (missense variant)	Tip-toe gait	GLikely pathogenic
Select item 1675330	NM_001267550.2(TTN):c.46757dup (p.Met15587fs)	TTN, TTN-AS1 (M13019fs +5 more)	Duplication (frameshift variant)	Tip-toe gait	GLikely pathogenic
Select item 1607013	NM_170606.3(KMT2C):c.13311G>A (p.Thr4437=)	KMT2C	Single nucleotide variant (synonymous variant)	KMT2C-related disorder +1 more	GLikely benign
Select item 1526424	NM_001136472.2(LITAF):c.232A>T (p.Thr78Ser)	LITAF (T78S)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait	GLikely pathogenic
Select item 1526418	NM_014874.4(MFN2):c.664G>C (p.Val222Leu)	MFN2 (V222L)	Single nucleotide variant (missense variant)	Tip-toe gait	GLikely pathogenic
Select item 1526262	NM_004380.3(CREBBP):c.5348G>T (p.Cys1783Phe)	CREBBP (C1745F +1 more)	Single nucleotide variant (missense variant)	Tip-toe gait	GLikely pathogenic
Select item 1481795	NM_001267550.2(TTN):c.104434A>G (p.Ile34812Val)	TTN, TTN-AS1 (I34812V +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 1417539	NM_024577.4(SH3TC2):c.3374A>G (p.Glu1125Gly)	SH3TC2 (E1125G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1344579	NM_005609.4(PYGM):c.1354G>A (p.Ala452Thr)	PYGM (A364T +1 more)	Single nucleotide variant (missense variant)	Tip-toe gait +1 more	GConflicting classifications of pathogenicity
Select item 1344575	NM_005609.4(PYGM):c.1315C>T (p.Arg439Cys)	PYGM (R351C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +1 more	GConflicting classifications of pathogenicity
Select item 1344499	NM_001267550.2(TTN):c.104800C>T (p.Gln34934Ter)	TTN, TTN-AS1 (Q25869* +5 more)	Single nucleotide variant (nonsense)	Tip-toe gait	GLikely pathogenic
Select item 1342136	NM_001267550.2(TTN):c.107033dup (p.Ser35679fs)	TTN, TTN-AS1 (S26614fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 1342024	NM_006329.4(FBLN5):c.161G>A (p.Arg54Gln)	FBLN5 (R54Q +2 more)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait +1 more	GConflicting classifications of pathogenicity
Select item 1341514	NM_001267550.2(TTN):c.32240G>A (p.Gly10747Asp)	TTN (G10430D +2 more)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait +1 more	GConflicting classifications of pathogenicity
Select item 1338854	NM_130837.3(OPA1):c.113_130dup (p.Arg38_Ser43dup)	OPA1	Duplication (5 prime UTR variant +1 more)	Tip-toe gait	GLikely pathogenic
Select item 1338853	NM_004208.4(AIFM1):c.1658C>T (p.Ala553Val)	RAB33A, AIFM1 (A214V +2 more)	Single nucleotide variant (missense variant +2 more)	Tip-toe gait	GLikely pathogenic
Select item 1328382	NM_004369.4(COL6A3):c.6489C>G (p.Asp2163Glu)	COL6A3 (D1556E +2 more)	Single nucleotide variant (missense variant)	Tip-toe gait +1 more	GConflicting classifications of pathogenicity
Select item 1327228	NM_004380.3(CREBBP):c.712G>A (p.Val238Met)	CREBBP (V238M)	Single nucleotide variant (missense variant)	CREBBP-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1315891	NM_018706.7(DHTKD1):c.2585G>T (p.Ser862Ile)	DHTKD1 (S862I)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GUncertain significance
Select item 1303993	NM_015346.4(ZFYVE26):c.6154G>A (p.Val2052Ile)	ZFYVE26 (V2052I)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GUncertain significance
Select item 1284582	NM_001267550.2(TTN):c.54339del (p.Glu18113fs)	TTN, TTN-AS1 (E15545fs +5 more)	Deletion (non-coding transcript variant +1 more)	Tip-toe gait +1 more	GLikely pathogenic
Select item 1254617	NM_004380.3(CREBBP):c.4837G>A (p.Val1613Met)	CREBBP (V1575M +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1210116	NM_001127222.2(CACNA1A):c.3031G>A (p.Ala1011Thr)	CACNA1A (A1011T +2 more)	Single nucleotide variant (missense variant)	Tip-toe gait	GLikely pathogenic
Select item 1188844	NM_001267550.2(TTN):c.97399G>A (p.Gly32467Arg)	TTN, TTN-AS1 (G23402R +5 more)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait	GLikely pathogenic
Select item 1188843	NM_001267550.2(TTN):c.60542T>C (p.Ile20181Thr)	TTN, TTN-AS1 (I11116T +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Tip-toe gait	GLikely pathogenic
Select item 1120223	NM_170606.3(KMT2C):c.925C>T (p.Pro309Ser)	KMT2C (P309S)	Single nucleotide variant (missense variant)	Tip-toe gait	GUncertain significance
Select item 1120019	NM_002972.4(SBF1):c.3191G>A (p.Gly1064Glu)	SBF1 (G1064E +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1119994	NM_015346.4(ZFYVE26):c.2429G>A (p.Arg810Gln)	ZFYVE26 (R810Q)	Single nucleotide variant (missense variant)	Tip-toe gait	GUncertain significance
Select item 1069632	NM_005609.4(PYGM):c.1353dup (p.Ala452fs)	PYGM (A364fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease, type V	GPathogenic
Select item 1050798	NM_001267550.2(TTN):c.14920A>C (p.Thr4974Pro)	TTN (T3730P +2 more)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait	GUncertain significance
Select item 1048571	NM_004993.6(ATXN3):c.776-3C>T	ATXN3	Single nucleotide variant (intron variant)	ATXN3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1048570	NM_007118.4(TRIO):c.3066+5G>A	TRIO	Single nucleotide variant (intron variant)	Tip-toe gait	GUncertain significance
Select item 1048115	NM_004380.3(CREBBP):c.69G>A (p.Ser23=)	CREBBP, LOC130058357	Single nucleotide variant (synonymous variant)	Tip-toe gait +3 more	GConflicting classifications of pathogenicity
Select item 1048085	NM_001128164.2(ATXN1):c.1563G>C (p.Thr521=)	ATXN1	Single nucleotide variant (synonymous variant +1 more)	Tip-toe gait	GUncertain significance
Select item 1016946	NM_001267550.2(TTN):c.66463+2dup	TTN, TTN-AS1	Duplication (splice donor variant)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 1012273	NM_000371.4(TTR):c.[239C>T];[424G>A]			Familial amyloid neuropathy	GPathogenic
Select item 1005951	NM_024577.4(SH3TC2):c.3760A>G (p.Arg1254Gly)	SH3TC2 (R1254G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 997013	NM_181882.3(PRX):c.1905A>C (p.Lys635Asn)	PRX (K635N)	Single nucleotide variant (3 prime UTR variant +1 more)	Tip-toe gait	GLikely pathogenic
Select item 969089	NM_000083.3(CLCN1):c.2681G>A (p.Arg894Gln)	CLCN1 (R894Q)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 945649	NM_005609.4(PYGM):c.164_168del (p.Ala55fs)	PYGM (A55fs)	Deletion (frameshift variant)	Glycogen storage disease, type V	GPathogenic
Select item 916249	NM_004977.3(KCNC3):c.1768G>A (p.Gly590Ser)	KCNC3 (G514S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 878395	NM_005609.4(PYGM):c.1375A>G (p.Ile459Val)	PYGM (I371V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 856628	NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)	PYGM (L397P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 847040	NM_018706.7(DHTKD1):c.488G>A (p.Arg163Gln)	DHTKD1 (R163Q)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +2 more	GUncertain significance
Select item 845620	NM_181882.3(PRX):c.2463C>T (p.Gly821=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 812781	NM_024306.5(FA2H):c.949T>G (p.Tyr317Asp)	FA2H (Y317D)	Single nucleotide variant (missense variant)	Tip-toe gait +1 more	GLikely pathogenic
Select item 810993	NM_018706.7(DHTKD1):c.1364G>A (p.Arg455Gln)	DHTKD1 (R455Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 809053	NM_001267550.2(TTN):c.20395C>T (p.Arg6799Trp)	TTN (R5555W +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GUncertain significance
Select item 808384	NM_000371.4(TTR):c.310A>C (p.Ile104Leu)	TTR (I104L)	Single nucleotide variant (missense variant)	Tip-toe gait +1 more	GConflicting classifications of pathogenicity
Select item 808383	NM_000371.4(TTR):c.209G>A (p.Ser70Asn)	TTR (S70N)	Single nucleotide variant (missense variant)	Familial amyloid neuropathy +5 more	GUncertain significance
Select item 805511	NM_014946.4(SPAST):c.1413+1G>A	SPAST	Single nucleotide variant (splice donor variant)	Tip-toe gait +2 more	GPathogenic
Select item 803573	NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del)	KCNC3	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 781921	NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr)	SBF1 (P1618T +1 more)	Single nucleotide variant (missense variant)	SBF1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 778028	NM_170606.3(KMT2C):c.6339A>C (p.Ser2113=)	KMT2C	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 661766	NM_000083.3(CLCN1):c.478C>T (p.Gln160Ter)	CLCN1 (Q160*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal dominant form +1 more	GPathogenic
Select item 655378	NM_024577.4(SH3TC2):c.3836G>A (p.Arg1279Gln)	SH3TC2 (R1279Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
Select item 639539	NM_004369.4(COL6A3):c.5369C>T (p.Ala1790Val)	COL6A3 (A1183V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 639252	NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys)	CLCN1 (R105C)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +3 more	GConflicting classifications of pathogenicity
Select item 637110	NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly)	GDAP1 (R273G +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A +1 more	GUncertain significance
Select item 624305	NM_000083.3(CLCN1):c.2528T>C (p.Leu843Pro)	CLCN1 (L843P)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GLikely pathogenic
Select item 624123	NM_001127222.2(CACNA1A):c.6231C>A (p.Asp2077Glu)	CACNA1A (D2078E +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 623899	NM_000263.4(NAGLU):c.1000G>A (p.Val334Ile)	NAGLU (V334I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity

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