ClinVar for MedGen (Select 313270) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 pheochromocytoma-paraganglioma	GLikely benign
Select item 3075205	NM_003000.3(SDHB):c.821A>T (p.Lys274Met)	SDHB (K256M +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +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 pheochromocytoma-paraganglioma	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	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 (synonymous 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 pheochromocytoma-paraganglioma +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 (3 prime UTR variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2978670	NM_017849.4(TMEM127):c.244+15C>T	TMEM127	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2977615	NM_017849.4(TMEM127):c.43C>G (p.Arg15Gly)	LOC129934333, TMEM127 (R15G)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2976806	NM_017841.4(SDHAF2):c.17T>G (p.Val6Gly)	SDHAF2 (V6G)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 2975054	NM_017841.4(SDHAF2):c.370+1G>A	SDHAF2	Single nucleotide variant (splice donor variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2975048	NM_017849.4(TMEM127):c.551G>T (p.Gly184Val)	TMEM127 (G100V +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2972578	NM_017841.4(SDHAF2):c.109G>A (p.Gly37Ser)	SDHAF2 (G37S)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2967724	NM_017841.4(SDHAF2):c.501A>G (p.Ter167Trp)	SDHAF2	Single nucleotide variant (stop lost)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2965133	NM_017849.4(TMEM127):c.597C>T (p.Tyr199=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2962972	NM_017849.4(TMEM127):c.13G>T (p.Gly5Ter)	LOC129934333, TMEM127 (G5*)	Single nucleotide variant (nonsense +1 more)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 2961059	NM_017841.4(SDHAF2):c.260+7G>C	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2960216	NM_002382.5(MAX):c.366C>T (p.Leu122=)	MAX	Single nucleotide variant (synonymous variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2959581	NM_017849.4(TMEM127):c.379C>G (p.Arg127Gly)	TMEM127 (R127G +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2955069	NM_002382.5(MAX):c.172-10_172-9del	MAX	Microsatellite (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2951573	NM_003000.3(SDHB):c.128C>T (p.Ala43Val)	SDHB (A43V)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GUncertain significance
Select item 2946701	NM_003001.5(SDHC):c.6T>A (p.Ala2=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Hereditary pheochromocytoma-paraganglioma +2 more	GLikely benign
Select item 2927111	NM_003000.3(SDHB):c.776C>T (p.Pro259Leu)	SDHB (P241L +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GUncertain significance
Select item 2918547	NM_017841.4(SDHAF2):c.36+7A>G	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2918500	NM_017841.4(SDHAF2):c.370+10A>T	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2918363	NM_017849.4(TMEM127):c.244+7G>A	TMEM127	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2918146	NM_017849.4(TMEM127):c.453T>C (p.Ser151=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2917542	NM_017849.4(TMEM127):c.40C>T (p.Arg14Trp)	LOC129934333, TMEM127 (R14W)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2916264	NM_002382.5(MAX):c.306G>A (p.Leu102=)	MAX	Single nucleotide variant (synonymous variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2915257	NM_017841.4(SDHAF2):c.250A>G (p.Ile84Val)	SDHAF2 (I84V)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2915254	NM_017849.4(TMEM127):c.278T>G (p.Leu93Arg)	TMEM127 (L9R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2914702	NM_017841.4(SDHAF2):c.471T>C (p.Asp157=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2914011	NM_017849.4(TMEM127):c.386A>G (p.Tyr129Cys)	TMEM127 (Y129C +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2912036	NM_017841.4(SDHAF2):c.366_370+9del	SDHAF2	Deletion (splice donor variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2911238	NM_002382.5(MAX):c.104G>A (p.Arg35His)	LOC100506321, MAX (V43I +2 more)	Single nucleotide variant (missense variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2910142	NM_017849.4(TMEM127):c.131T>G (p.Leu44Arg)	TMEM127 (L44R)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2910041	NM_017841.4(SDHAF2):c.37-113T>G	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2908070	NM_017849.4(TMEM127):c.244+10C>G	TMEM127	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign

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