ClinVar for MedGen (Select 313270) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3386002	NM_003002.4(SDHD):c.460G>A (p.Ala154Thr)	SDHD (A115T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3386001	NM_003002.4(SDHD):c.233G>A (p.Gly78Asp)	SDHD (G39D +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3386000	NM_003002.4(SDHD):c.214G>T (p.Val72Phe)	SDHD (V33F +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3385999	NM_003002.4(SDHD):c.123A>G (p.Pro41=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3385998	NM_003002.4(SDHD):c.-12C>T	LOC126861339, SDHD	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3385997	NM_003001.5(SDHC):c.482T>C (p.Leu161Ser)	SDHC (L108S +7 more)	Single nucleotide variant (synonymous variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3385996	NM_003001.5(SDHC):c.460G>T (p.Val154Phe)	SDHC (G65V +10 more)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3385995	NM_003001.5(SDHC):c.383C>A (p.Thr128Asn)	SDHC (T107N +7 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3385993	NM_003001.5(SDHC):c.279T>C (p.Pro93=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3385992	NM_003001.5(SDHC):c.164A>T (p.His55Leu)	SDHC (H18L +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3385991	NM_003001.5(SDHC):c.144A>G (p.Ser48=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3385990	NC_000001.11:g.17054033G>A	SDHB	Single nucleotide variant	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3385989	NM_003000.3(SDHB):c.105A>G (p.Thr35=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3385988	NM_003000.3(SDHB):c.245_278del (p.Glu82fs)	SDHB (E82fs)	Deletion (frameshift variant)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 3385987	NM_003000.3(SDHB):c.509A>T (p.Tyr170Phe)	SDHB (Y152F +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3385986	NM_003000.3(SDHB):c.643-5T>A	SDHB	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3385985	NM_003000.3(SDHB):c.676T>A (p.Phe226Ile)	SDHB (F208I +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3385984	NM_003000.3(SDHB):c.770T>C (p.Leu257Pro)	SDHB (L239P +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3385983	NM_017841.4(SDHAF2):c.337A>T (p.Ser113Cys)	SDHAF2 (S113C)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3385982	NM_017841.4(SDHAF2):c.335C>T (p.Pro112Leu)	SDHAF2 (P112L)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3385981	NM_017841.4(SDHAF2):c.302A>G (p.Gln101Arg)	SDHAF2 (Q101R)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3385980	NM_017841.4(SDHAF2):c.187A>T (p.Ile63Leu)	SDHAF2 (I63L)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3385979	NM_017841.4(SDHAF2):c.166C>T (p.Gln56Ter)	SDHAF2 (Q56*)	Single nucleotide variant (nonsense)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 3385978	NM_017841.4(SDHAF2):c.165dup (p.Gln56fs)	SDHAF2 (Q56fs)	Duplication (frameshift variant)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 3247225	NC_000002.11:g.(?_96919546)_(96931119_?)dup	TMEM127	Duplication	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3247224	NC_000002.11:g.(?_96919546)_(96931119_?)del	TMEM127	Deletion	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 3244606	NC_000011.9:g.(?_61213393)_(61213543_?)dup	SDHAF2	Duplication	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3244605	NC_000011.9:g.(?_61213403)_(61213543_?)del	SDHAF2	Deletion	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3243971	NC_000014.8:g.(?_65544621)_(65569057_?)dup	MAX	Duplication	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3243970	NC_000014.8:g.(?_65543194)_(65544764_?)del	MAX	Deletion	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 3243969	NC_000014.8:g.(?_65543194)_(65569057_?)del	MAX	Deletion	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 3233926	NC_000001.10:g.(17355232_17359554)_(17359641_17371255)del	SDHB	Deletion	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 3076063	NM_003000.3(SDHB):c.81del (p.Gly28fs)	SDHB (G28fs)	Deletion (frameshift variant)	Hereditary pheochromocytoma-paraganglioma	GLikely pathogenic
Select item 3075911	NM_004168.4(SDHA):c.1631_1647del (p.Gly544fs)	SDHA (G496fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GLikely pathogenic
Select item 3075559	NM_003002.4(SDHD):c.173G>T (p.Gly58Val)	SDHD (G19V +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3075408	NM_003000.3(SDHB):c.825G>A (p.Glu275=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3075391	NM_003000.3(SDHB):c.288C>T (p.Gly96=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3075309	NM_003002.4(SDHD):c.186A>G (p.Ala62=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3075205	NM_003000.3(SDHB):c.821A>T (p.Lys274Met)	SDHB (K256M +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3075087	NM_003000.3(SDHB):c.818A>G (p.Tyr273Cys)	SDHB (Y255C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3075083	NM_003002.4(SDHD):c.259C>A (p.Pro87Thr)	SDHD (P48T +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3074941	NM_003000.3(SDHB):c.359A>T (p.Asn120Ile)	SDHB (N120I)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3074812	NM_003000.3(SDHB):c.262A>G (p.Thr88Ala)	SDHB (T88A)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3074801	NM_003002.4(SDHD):c.-15G>T	LOC126861339, SDHD	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3074747	NM_003002.4(SDHD):c.134G>T (p.Gly45Val)	SDHD (G45V)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3074545	NM_003001.5(SDHC):c.196G>C (p.Ala66Pro)	SDHC (A106P +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3074535	NM_003001.5(SDHC):c.482T>G (p.Leu161Trp)	SDHC (L108W +7 more)	Single nucleotide variant (synonymous variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3074458	NM_003001.5(SDHC):c.242-7T>C	SDHC	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3074409	NM_017841.4(SDHAF2):c.261-12del	SDHAF2	Deletion (intron variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3074203	NM_017841.4(SDHAF2):c.*3T>A	SDHAF2	Single nucleotide variant (3 prime UTR variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3074069	NM_003000.3(SDHB):c.200+5G>A	SDHB	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 3074014	NM_017841.4(SDHAF2):c.206G>C (p.Arg69Pro)	SDHAF2 (R69P)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3073999	NM_017841.4(SDHAF2):c.112G>C (p.Asp38His)	SDHAF2 (D38H)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3073992	NM_003000.3(SDHB):c.476A>G (p.Lys159Arg)	SDHB (K141R +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3073916	NM_003002.4(SDHD):c.5C>A (p.Ala2Glu)	LOC126861339, SDHD (A2E)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3073891	NM_003001.5(SDHC):c.*3A>G	SDHC (K117E +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 3073872	NM_003002.4(SDHD):c.230T>A (p.Leu77Gln)	SDHD (L38Q +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3073349	NM_003001.5(SDHC):c.429G>A (p.Leu143=)	SDHC (E55K +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3072724	NM_003002.4(SDHD):c.194A>C (p.His65Pro)	SDHD (H26P +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3072659	NM_003000.3(SDHB):c.643-6T>C	SDHB	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3072560	NM_003001.5(SDHC):c.-14G>T	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3072494	NM_003002.4(SDHD):c.-9A>C	LOC126861339, SDHD	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3072359	NM_017841.4(SDHAF2):c.152C>G (p.Pro51Arg)	SDHAF2 (P51R)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3072319	NM_003001.5(SDHC):c.480G>T (p.Val160=)	SDHC (V106F +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3071977	NM_003002.4(SDHD):c.470G>A (p.Trp157Ter)	SDHD (W118* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3071935	NM_003000.3(SDHB):c.562C>T (p.Leu188Phe)	SDHB (L170F +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 3071913	NM_003000.3(SDHB):c.404T>C (p.Val135Ala)	SDHB (V135A)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3071895	NM_003000.3(SDHB):c.672T>A (p.Asp224Glu)	SDHB (D206E +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3071844	NM_003000.3(SDHB):c.-1G>A	SDHB	Single nucleotide variant (5 prime UTR variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 3071560	NM_003002.4(SDHD):c.295C>A (p.Leu99Ile)	SDHD (L60I +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3071512	NM_017841.4(SDHAF2):c.407T>C (p.Val136Ala)	SDHAF2 (V136A)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3071481	NM_003000.3(SDHB):c.266T>G (p.Phe89Cys)	SDHB (F89C)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3071152	NM_017841.4(SDHAF2):c.267T>C (p.Phe89=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3071143	NM_017841.4(SDHAF2):c.163T>C (p.Trp55Arg)	SDHAF2 (W55R)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3071038	NM_003000.3(SDHB):c.-9G>A	SDHB	Single nucleotide variant (5 prime UTR variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3070907	NM_017841.4(SDHAF2):c.18G>T (p.Val6=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3070901	NM_003002.4(SDHD):c.299C>G (p.Thr100Ser)	SDHD (T100S +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3070766	NM_003001.5(SDHC):c.-12C>G	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3070697	NM_003002.4(SDHD):c.1_2insTTCATA	SDHD	Insertion (3 prime UTR variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3070654	NM_017841.4(SDHAF2):c.260+6G>C	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3070639	NM_003000.3(SDHB):c.-13del	SDHB	Deletion (5 prime UTR variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3070443	NM_003002.4(SDHD):c.444C>A (p.Gly148=)	SDHD	Single nucleotide variant (3 prime UTR variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3070294	NM_003000.3(SDHB):c.62C>A (p.Ala21Asp)	LOC129929542, SDHB (A21D)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3070129	NM_003001.5(SDHC):c.-4C>G	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3069734	NM_003000.3(SDHB):c.511C>G (p.Leu171Val)	SDHB (L153V +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3022086	NM_002382.5(MAX):c.172-14T>C	MAX	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3018726	NM_002382.5(MAX):c.50G>A (p.Arg17Lys)	MAX (G25S +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3018641	NM_017841.4(SDHAF2):c.200G>T (p.Arg67Ile)	SDHAF2 (R67I)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3017420	NM_017841.4(SDHAF2):c.51A>C (p.Ser17=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3015166	NM_002382.5(MAX):c.355G>A (p.Asp119Asn)	MAX (D110N +4 more)	Single nucleotide variant (missense variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3013505	NM_017849.4(TMEM127):c.646G>A (p.Glu216Lys)	TMEM127 (E132K +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3010801	NM_017849.4(TMEM127):c.483_487delinsGCATAAGT (p.His161_Lys163delinsGlnHisLysTer)	TMEM127	Indel (nonsense)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 3010480	NM_017841.4(SDHAF2):c.370+11T>C	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3004906	NM_002382.5(MAX):c.296-14T>C	MAX	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3003932	NM_017849.4(TMEM127):c.516C>T (p.Thr172=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2994240	NM_002382.5(MAX):c.93G>A (p.Leu31=)	LOC100506321, MAX (W39*)	Single nucleotide variant (non-coding transcript variant +4 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2993885	NM_017849.4(TMEM127):c.267_268del (p.Val90fs)	TMEM127 (V90fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2987205	NM_017841.4(SDHAF2):c.215A>T (p.Tyr72Phe)	SDHAF2 (Y72F)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2985814	NM_002382.5(MAX):c.64-11C>T	LOC100506321, MAX	Single nucleotide variant (intron variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2985228	NM_002382.5(MAX):c.474G>A (p.Glu158=)	MAX	Single nucleotide variant (synonymous variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign

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