SDHD[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 657

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 506417	NM_003002.4(SDHD):c.53-52_53-49del	SDHD	Deletion (intron variant)	Pheochromocytoma +5 more	GBenign/Likely benign
Select item 2943621	NM_003002.4(SDHD):c.53-20C>T	SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +3 more	GLikely benign
Select item 2034829	NM_003002.4(SDHD):c.53-18T>C	SDHD	Single nucleotide variant (intron variant)	Paragangliomas with sensorineural hearing loss +3 more	GLikely benign
Select item 1533203	NM_003002.4(SDHD):c.53-17A>G	SDHD	Single nucleotide variant (intron variant)	Paragangliomas with sensorineural hearing loss +3 more	GLikely benign
Select item 1393634	NM_003002.4(SDHD):c.53-16A>G	SDHD	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 2932046	NM_003002.4(SDHD):c.53-15T>C	SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +3 more	GLikely benign
Select item 1971092	NM_003002.4(SDHD):c.53-14G>A	SDHD	Single nucleotide variant (intron variant)	Paragangliomas with sensorineural hearing loss +3 more	GLikely benign
Select item 2944065	NM_003002.4(SDHD):c.53-13A>G	SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +3 more	GLikely benign
Select item 2942976	NM_003002.4(SDHD):c.53-10_53-9del	SDHD	Microsatellite (intron variant)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 1588473	NM_003002.4(SDHD):c.53-12C>G	SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +3 more	GLikely benign
Select item 1567828	NM_003002.4(SDHD):c.53-12C>T	SDHD	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GLikely benign
Select item 2952184	NM_003002.4(SDHD):c.53-11T>C	SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 656097	NM_003002.4(SDHD):c.53-9_53-6del	SDHD	Deletion (intron variant)	Cowden syndrome 3 +3 more	GUncertain significance
Select item 852870	NM_003002.4(SDHD):c.53-10C>G	SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1614571	NM_003002.4(SDHD):c.53-8_53-7del	SDHD	Deletion (intron variant)	Carney-Stratakis syndrome +3 more	GLikely benign
Select item 2059266	NM_003002.4(SDHD):c.53-7T>C	SDHD	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GLikely benign
Select item 1015593	NM_003002.4(SDHD):c.53-7_53-3del	SDHD	Deletion (intron variant)	Pheochromocytoma +4 more	GConflicting classifications of pathogenicity
Select item 878533	NM_003002.4(SDHD):c.53-6C>A	SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +5 more	GUncertain significance
Select item 417305	NM_003002.4(SDHD):c.53-6C>T	SDHD	Single nucleotide variant (intron variant)	Paragangliomas with sensorineural hearing loss +3 more	GLikely benign
Select item 1095755	NM_003002.4(SDHD):c.53-5C>T	SDHD	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GLikely benign
Select item 2127451	NM_003002.4(SDHD):c.53-3C>T	SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +4 more	GUncertain significance
Select item 2576071	NM_003002.4(SDHD):c.53-2A>G	SDHD	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 2089900	NM_003002.4(SDHD):c.53-2A>C	SDHD	Single nucleotide variant (splice acceptor variant +1 more)	Cowden syndrome 3 +3 more	GLikely pathogenic
Select item 1067485	NM_003002.4(SDHD):c.53-1G>T	SDHD	Single nucleotide variant (splice acceptor variant +1 more)	Pheochromocytoma +3 more	GLikely pathogenic
Select item 579812	NM_003002.4(SDHD):c.53-1_53delinsTT	SDHD	Indel (splice acceptor variant +1 more)	Cowden syndrome 3 +3 more	GLikely pathogenic
Select item 279889	NM_003002.4(SDHD):c.53dup (p.Leu19fs)	SDHD (L19fs)	Duplication (frameshift variant +2 more)	not provided +5 more	GPathogenic
Select item 302481	NM_003002.4(SDHD):c.53C>T (p.Ala18Val)	SDHD (A18V)	Single nucleotide variant (missense variant +2 more)	Paragangliomas 1 +8 more	GConflicting classifications of pathogenicity
Select item 1413592	NM_003002.4(SDHD):c.56T>C (p.Leu19Pro)	SDHD (L19P)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 533797	NM_003002.4(SDHD):c.57G>A (p.Leu19=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Paragangliomas with sensorineural hearing loss +4 more	GLikely benign
Select item 6917	NM_003002.4(SDHD):c.57del (p.Leu20fs)	SDHD (L20fs)	Deletion (frameshift variant +2 more)	Hereditary pheochromocytoma-paraganglioma +6 more	GPathogenic
Select item 962457	NM_003002.4(SDHD):c.58T>A (p.Leu20Met)	SDHD (L20M)	Single nucleotide variant (missense variant +2 more)	Paragangliomas with sensorineural hearing loss +3 more	GUncertain significance
Select item 486439	NM_003002.4(SDHD):c.58T>C (p.Leu20=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Carney-Stratakis syndrome +5 more	GLikely benign
Select item 1750971	NM_003002.4(SDHD):c.59T>C (p.Leu20Ser)	SDHD (L20S)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1117600	NM_003002.4(SDHD):c.60G>A (p.Leu20=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 826240	NM_003002.4(SDHD):c.61C>T (p.Leu21Phe)	SDHD (L21F)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +5 more	GUncertain significance
Select item 2121262	NM_003002.4(SDHD):c.62T>C (p.Leu21Pro)	SDHD (L21P)	Single nucleotide variant (missense variant +2 more)	Paragangliomas with sensorineural hearing loss +3 more	GUncertain significance
Select item 1055597	NM_003002.4(SDHD):c.64C>A (p.Arg22=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Paragangliomas with sensorineural hearing loss +3 more	GUncertain significance
Select item 6903	NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)	SDHD (R22*)	Single nucleotide variant (nonsense +2 more)	not provided +6 more	GPathogenic
Select item 1923670	NM_003002.4(SDHD):c.65G>C (p.Arg22Pro)	SDHD (R22P)	Single nucleotide variant (missense variant +2 more)	Cowden syndrome 3 +3 more	GUncertain significance
Select item 486444	NM_003002.4(SDHD):c.65G>A (p.Arg22Gln)	SDHD (R22Q)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +4 more	GUncertain significance
Select item 1692742	NM_003002.4(SDHD):c.66A>G (p.Arg22=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2567229	NM_003002.4(SDHD):c.69del (p.Pro24fs)	SDHD (P24fs)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1159597	NM_003002.4(SDHD):c.69T>A (p.Thr23=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Pheochromocytoma +3 more	GLikely benign
Select item 1129946	NM_003002.4(SDHD):c.69T>G (p.Thr23=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Paragangliomas with sensorineural hearing loss +3 more	GLikely benign
Select item 3316917	NM_003002.4(SDHD):c.70C>G (p.Pro24Ala)	SDHD (P24A)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1473419	NM_003002.4(SDHD):c.70C>T (p.Pro24Ser)	SDHD (P24S)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1397142	NM_003002.4(SDHD):c.71C>T (p.Pro24Leu)	SDHD (P24L)	Single nucleotide variant (missense variant +2 more)	Cowden syndrome 3 +3 more	GUncertain significance
Select item 1692743	NM_003002.4(SDHD):c.72A>G (p.Pro24=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 766490	NM_003002.4(SDHD):c.72A>C (p.Pro24=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 239475	NM_003002.4(SDHD):c.73G>T (p.Val25Leu)	SDHD (V25L)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 2937824	NM_003002.4(SDHD):c.75G>A (p.Val25=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Carney-Stratakis syndrome +3 more	GLikely benign
Select item 2944527	NM_003002.4(SDHD):c.78C>T (p.Val26=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Carney-Stratakis syndrome +3 more	GLikely benign
Select item 302482	NM_003002.4(SDHD):c.80G>A (p.Arg27Lys)	SDHD (R27K)	Single nucleotide variant (missense variant +2 more)	not provided +6 more	GBenign/Likely benign
Select item 939509	NM_003002.4(SDHD):c.82C>T (p.Pro28Ser)	SDHD (P28S)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 533792	NM_003002.4(SDHD):c.82C>G (p.Pro28Ala)	SDHD (P28A)	Single nucleotide variant (missense variant +2 more)	Paragangliomas with sensorineural hearing loss +3 more	GUncertain significance
Select item 465247	NM_003002.4(SDHD):c.82C>A (p.Pro28Thr)	SDHD (P28T)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 1363961	NM_003002.4(SDHD):c.83C>A (p.Pro28His)	SDHD (P28H)	Single nucleotide variant (missense variant +2 more)	Cowden syndrome 3 +4 more	GUncertain significance
Select item 1156016	NM_003002.4(SDHD):c.84T>C (p.Pro28=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Pheochromocytoma +3 more	GLikely benign
Select item 1961019	NM_003002.4(SDHD):c.85G>A (p.Ala29Thr)	SDHD (A29T)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 412496	NM_003002.4(SDHD):c.85G>C (p.Ala29Pro)	SDHD (A29P)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 1765433	NM_003002.4(SDHD):c.90_96del (p.His30fs)	SDHD (H30fs)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 533787	NM_003002.4(SDHD):c.86C>T (p.Ala29Val)	SDHD (A29V)	Single nucleotide variant (missense variant +2 more)	Paragangliomas with sensorineural hearing loss +3 more	GUncertain significance
Select item 480802	NM_003002.4(SDHD):c.88C>T (p.His30Tyr)	SDHD (H30Y)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GUncertain significance
Select item 648612	NM_003002.4(SDHD):c.89A>C (p.His30Pro)	SDHD (H30P)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 1765819	NM_003002.4(SDHD):c.90T>C (p.His30=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 860158	NM_003002.4(SDHD):c.91A>G (p.Ile31Val)	SDHD (I31V)	Single nucleotide variant (missense variant +2 more)	Carney-Stratakis syndrome +5 more	GConflicting classifications of pathogenicity
Select item 6908	NM_003002.4(SDHD):c.94_95del (p.Ala33fs)	SDHD (A33fs)	Microsatellite (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 1766819	NM_003002.4(SDHD):c.93C>G (p.Ile31Met)	SDHD (I31M)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 779787	NM_003002.4(SDHD):c.93C>T (p.Ile31=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 2946059	NM_003002.4(SDHD):c.94T>G (p.Ser32Ala)	SDHD (S32A)	Single nucleotide variant (missense variant +2 more)	Cowden syndrome 3 +3 more	GUncertain significance
Select item 1462918	NM_003002.4(SDHD):c.95C>T (p.Ser32Leu)	SDHD (S32L)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 6901	NM_003002.4(SDHD):c.95C>A (p.Ser32Ter)	SDHD (S32*)	Single nucleotide variant (nonsense +2 more)	Paragangliomas 1 +5 more	GPathogenic
Select item 1767864	NM_003002.4(SDHD):c.96A>C (p.Ser32=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1485461	NM_003002.4(SDHD):c.97G>A (p.Ala33Thr)	SDHD (A33T)	Single nucleotide variant (missense variant +2 more)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 1996565	NM_003002.4(SDHD):c.98C>A (p.Ala33Glu)	SDHD (A33E)	Single nucleotide variant (missense variant +2 more)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 619914	NM_003002.4(SDHD):c.98C>T (p.Ala33Val)	SDHD (A33V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1134892	NM_003002.4(SDHD):c.99A>G (p.Ala33=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Paragangliomas with sensorineural hearing loss +3 more	GLikely benign
Select item 135196	NM_003002.4(SDHD):c.101T>G (p.Phe34Cys)	SDHD (F34C)	Single nucleotide variant (missense variant +2 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 2134043	NM_003002.4(SDHD):c.102T>G (p.Phe34Leu)	SDHD (F34L)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2095091	NM_003002.4(SDHD):c.102T>A (p.Phe34Leu)	SDHD (F34L)	Single nucleotide variant (missense variant +2 more)	Paragangliomas with sensorineural hearing loss +3 more	GUncertain significance
Select item 2567225	NM_003002.4(SDHD):c.104T>C (p.Leu35Pro)	SDHD (L35P)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 6892	NM_003002.4(SDHD):c.106C>T (p.Gln36Ter)	SDHD (Q36*)	Single nucleotide variant (nonsense +2 more)	Paragangliomas 1 +5 more	GPathogenic
Select item 1057555	NM_003002.4(SDHD):c.107A>C (p.Gln36Pro)	SDHD (Q36P)	Single nucleotide variant (missense variant +2 more)	Paragangliomas with sensorineural hearing loss +6 more	GUncertain significance
Select item 412495	NM_003002.4(SDHD):c.107A>G (p.Gln36Arg)	SDHD (Q36R)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 986848	NM_003002.4(SDHD):c.113_116dup (p.Ile40fs)	SDHD (I40fs)	Microsatellite (frameshift variant +2 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 950801	NM_003002.4(SDHD):c.108G>T (p.Gln36His)	SDHD (Q36H)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma +4 more	GUncertain significance
Select item 2452940	NM_003002.4(SDHD):c.109G>T (p.Asp37Tyr)	SDHD (D37Y)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1015671	NM_003002.4(SDHD):c.109G>A (p.Asp37Asn)	SDHD (D37N)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +4 more	GUncertain significance
Select item 940748	NM_003002.4(SDHD):c.110A>T (p.Asp37Val)	SDHD (D37V)	Single nucleotide variant (missense variant +2 more)	Cowden syndrome 3 +3 more	GUncertain significance
Select item 1727862	NM_003002.4(SDHD):c.112C>A (p.Arg38=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Hereditary pheochromocytoma-paraganglioma +5 more	GLikely benign
Select item 6893	NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)	SDHD (R38*)	Single nucleotide variant (nonsense +2 more)	Paragangliomas 1 +7 more	GPathogenic
Select item 971673	NM_003002.4(SDHD):c.113G>A (p.Arg38Gln)	SDHD (R38Q)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 465219	NM_003002.4(SDHD):c.113G>C (p.Arg38Pro)	SDHD (R38P)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 465220	NM_003002.4(SDHD):c.114A>G (p.Arg38=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Carney-Stratakis syndrome +3 more	GLikely benign
Select item 2934640	NM_003002.4(SDHD):c.115C>T (p.Pro39Ser)	SDHD (P39S)	Single nucleotide variant (missense variant +2 more)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 858565	NM_003002.4(SDHD):c.115C>A (p.Pro39Thr)	SDHD (P39T)	Single nucleotide variant (missense variant +2 more)	Carney-Stratakis syndrome +4 more	GUncertain significance
Select item 582411	NM_003002.4(SDHD):c.116C>T (p.Pro39Leu)	SDHD (P39L)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 2574077	NM_003002.4(SDHD):c.117del (p.Ile40fs)	SDHD (I40fs)	Deletion (non-coding transcript variant +2 more)	Paragangliomas 1	GLikely pathogenic
Select item 465221	NM_003002.4(SDHD):c.118A>G (p.Ile40Val)	SDHD (I40V)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 218581	NM_003002.4(SDHD):c.118A>C (p.Ile40Leu)	SDHD (I40L)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 7