6392[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 145533	GRCh38/hg38 11q23.1(chr11:111659380-112255732)x3	ALG9, BCO2 +45 more	Copy number gain	See cases	GUncertain significance
Select item 239459	NM_003002.3(SDHD):c.-84_*831del	LOC126861339, SDHD	Deletion	Paragangliomas 1 +1 more	GPathogenic
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 584168	NC_000011.10:g.(?_112086898)_(112094980_?)del	LOC126861339, SDHD	Deletion	Carney-Stratakis syndrome +4 more	GPathogenic
Select item 583927	NC_000011.9:g.(?_111957622)_(111965704_?)dup	LOC126861339, SDHD	Duplication	Paragangliomas 1 +3 more	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 3032176	NM_003002.4(SDHD):c.-8G>A	LOC126861339, SDHD	Single nucleotide variant (5 prime UTR variant +1 more)	SDHD-related disorder	GLikely benign
Select item 1320373	NM_003002.4(SDHD):c.-4C>A	LOC126861339, SDHD	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 825357	NM_003002.4(SDHD):c.-4C>G	LOC126861339, SDHD	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 619913	NM_003002.4(SDHD):c.-4C>T	LOC126861339, SDHD	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 422629	NM_003002.4(SDHD):c.1A>T (p.Met1Leu)	LOC126861339, SDHD (M1L)	Single nucleotide variant (missense variant +2 more)	Carney-Stratakis syndrome +5 more	GPathogenic
Select item 6911	NM_003002.4(SDHD):c.1A>G (p.Met1Val)	LOC126861339, SDHD (M1V)	Single nucleotide variant (missense variant +2 more)	Paragangliomas with sensorineural hearing loss +3 more	GPathogenic
Select item 2925495	NM_003002.4(SDHD):c.2T>C (p.Met1Thr)	LOC126861339, SDHD (M1T)	Single nucleotide variant (missense variant +2 more)	Cowden syndrome 3 +3 more	GPathogenic
Select item 579968	NM_003002.4(SDHD):c.3G>A (p.Met1Ile)	LOC126861339, SDHD (M1I)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 6906	NM_003002.4(SDHD):c.3G>C (p.Met1Ile)	LOC126861339, SDHD (M1I)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 646883	NM_003002.4(SDHD):c.4G>A (p.Ala2Thr)	LOC126861339, SDHD (A2T)	Single nucleotide variant (missense variant +1 more)	Paragangliomas with sensorineural hearing loss +3 more	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 852212	NM_003002.4(SDHD):c.5C>T (p.Ala2Val)	LOC126861339, SDHD (A2V)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 3 +4 more	GUncertain significance
Select item 579473	NM_003002.4(SDHD):c.5C>G (p.Ala2Gly)	LOC126861339, SDHD (A2G)	Single nucleotide variant (missense variant +1 more)	Paragangliomas with sensorineural hearing loss +3 more	GUncertain significance
Select item 1756621	NM_003002.4(SDHD):c.6G>C (p.Ala2=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 766627	NM_003002.4(SDHD):c.6G>A (p.Ala2=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Pheochromocytoma +3 more	GLikely benign
Select item 1424194	NM_003002.4(SDHD):c.7G>C (p.Val3Leu)	LOC126861339, SDHD (V3L)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 1367149	NM_003002.4(SDHD):c.7G>A (p.Val3Ile)	LOC126861339, SDHD (V3I)	Single nucleotide variant (missense variant +1 more)	Paragangliomas with sensorineural hearing loss +3 more	GUncertain significance
Select item 465246	NM_003002.4(SDHD):c.7G>T (p.Val3Phe)	LOC126861339, SDHD (V3F)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 3223045	NM_003002.4(SDHD):c.8T>C (p.Val3Ala)	LOC126861339, SDHD (V3A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 806737	NM_003002.4(SDHD):c.12_13del (p.Trp5fs)	LOC126861339, SDHD (W5fs)	Microsatellite (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 465248	NM_003002.4(SDHD):c.9T>A (p.Val3=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Pheochromocytoma +3 more	GLikely benign
Select item 239460	NM_003002.4(SDHD):c.10dup (p.Leu4fs)	LOC126861339, SDHD (L4fs)	Duplication (frameshift variant +1 more)	Cowden syndrome 3 +4 more	GPathogenic
Select item 2940872	NM_003002.4(SDHD):c.10C>A (p.Leu4Ile)	LOC126861339, SDHD (L4I)	Single nucleotide variant (missense variant +1 more)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 1791975	NM_003002.4(SDHD):c.10C>G (p.Leu4Val)	LOC126861339, SDHD (L4V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 822168	NM_003002.4(SDHD):c.10C>T (p.Leu4Phe)	LOC126861339, SDHD (L4F)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 3 +4 more	GUncertain significance
Select item 1588165	NM_003002.4(SDHD):c.12C>T (p.Leu4=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Carney-Stratakis syndrome +3 more	GLikely benign
Select item 2922271	NM_003002.4(SDHD):c.14_30del (p.Trp5fs)	LOC126861339, SDHD (W5fs)	Deletion (frameshift variant +1 more)	Cowden syndrome 3 +3 more	GPathogenic
Select item 1771773	NM_003002.4(SDHD):c.13T>A (p.Trp5Arg)	LOC126861339, SDHD (W5R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 618362	NM_003002.4(SDHD):c.13_14del (p.Trp5fs)	LOC126861339, SDHD (W5fs)	Deletion (frameshift variant +1 more)	Carney-Stratakis syndrome +5 more	GPathogenic
Select item 412514	NM_003002.4(SDHD):c.13T>C (p.Trp5Arg)	LOC126861339, SDHD (W5R)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma +4 more	GUncertain significance
Select item 6916	NM_003002.4(SDHD):c.14G>A (p.Trp5Ter)	LOC126861339, SDHD (W5*)	Single nucleotide variant (nonsense +1 more)	Paragangliomas with sensorineural hearing loss +4 more	GPathogenic
Select item 1917924	NM_003002.4(SDHD):c.15G>A (p.Trp5Ter)	LOC126861339, SDHD (W5*)	Single nucleotide variant (nonsense +1 more)	Paragangliomas with sensorineural hearing loss +3 more	GPathogenic
Select item 576178	NM_003002.4(SDHD):c.16A>G (p.Arg6Gly)	LOC126861339, SDHD (R6G)	Single nucleotide variant (missense variant +1 more)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 1780372	NM_003002.4(SDHD):c.17G>A (p.Arg6Lys)	LOC126861339, SDHD (R6K)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma +4 more	GUncertain significance
Select item 547769	NM_003002.4(SDHD):c.18_21del (p.Leu7fs)	LOC126861339, SDHD (L7fs)	Deletion (frameshift variant +1 more)	Carney-Stratakis syndrome +4 more	GPathogenic/Likely pathogenic
Select item 581402	NM_003002.4(SDHD):c.18G>T (p.Arg6Ser)	LOC126861339, SDHD (R6S)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma +5 more	GUncertain significance
Select item 239462	NM_003002.4(SDHD):c.18G>A (p.Arg6=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +7 more	GLikely benign
Select item 465226	NM_003002.4(SDHD):c.19C>T (p.Leu7=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 1436049	NM_003002.4(SDHD):c.20T>C (p.Leu7Pro)	LOC126861339, SDHD (L7P)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 3 +3 more	GUncertain significance
Select item 1036434	NM_003002.4(SDHD):c.20T>A (p.Leu7Gln)	LOC126861339, SDHD (L7Q)	Single nucleotide variant (missense variant +1 more)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 946838	NM_003002.4(SDHD):c.20T>G (p.Leu7Arg)	LOC126861339, SDHD (L7R)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 3 +3 more	GUncertain significance
Select item 2131874	NM_003002.4(SDHD):c.21G>T (p.Leu7=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Carney-Stratakis syndrome +3 more	GLikely benign
Select item 1787614	NM_003002.4(SDHD):c.21G>C (p.Leu7=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 465227	NM_003002.4(SDHD):c.21G>A (p.Leu7=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GLikely benign
Select item 3316911	NM_003002.4(SDHD):c.22A>C (p.Ser8Arg)	LOC126861339, SDHD (S8R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 857872	NM_003002.4(SDHD):c.22A>G (p.Ser8Gly)	LOC126861339, SDHD (S8G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 1062149	NM_003002.4(SDHD):c.23G>A (p.Ser8Asn)	LOC126861339, SDHD (S8N)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma +4 more	GUncertain significance
Select item 653230	NM_003002.4(SDHD):c.25G>A (p.Ala9Thr)	LOC126861339, SDHD (A9T)	Single nucleotide variant (missense variant +1 more)	Paragangliomas with sensorineural hearing loss +4 more	GUncertain significance
Select item 643986	NM_003002.4(SDHD):c.25G>T (p.Ala9Ser)	LOC126861339, SDHD (A9S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 1384692	NM_003002.4(SDHD):c.26C>T (p.Ala9Val)	LOC126861339, SDHD (A9V)	Single nucleotide variant (missense variant +1 more)	Paragangliomas with sensorineural hearing loss +4 more	GUncertain significance
Select item 639023	NM_003002.4(SDHD):c.26C>G (p.Ala9Gly)	LOC126861339, SDHD (A9G)	Single nucleotide variant (missense variant +1 more)	Paragangliomas with sensorineural hearing loss +3 more	GUncertain significance
Select item 2923520	NM_003002.4(SDHD):c.27C>G (p.Ala9=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Cowden syndrome 3 +3 more	GLikely benign
Select item 1619946	NM_003002.4(SDHD):c.27C>T (p.Ala9=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GLikely benign
Select item 465231	NM_003002.4(SDHD):c.27C>A (p.Ala9=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Pheochromocytoma +3 more	GLikely benign
Select item 3223040	NM_003002.4(SDHD):c.28G>C (p.Val10Leu)	LOC126861339, SDHD (V10L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 465232	NM_003002.4(SDHD):c.28G>A (p.Val10Ile)	LOC126861339, SDHD (V10I)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 2 deficiency, nuclear type 3 +5 more	GUncertain significance
Select item 1631130	NM_003002.4(SDHD):c.33C>T (p.Cys11=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Carney-Stratakis syndrome +5 more	GLikely benign
Select item 6915	NM_003002.4(SDHD):c.33C>A (p.Cys11Ter)	LOC126861339, SDHD (C11*)	Single nucleotide variant (nonsense +1 more)	Paragangliomas with sensorineural hearing loss +5 more	GPathogenic
Select item 2151603	NM_003002.4(SDHD):c.34G>C (p.Gly12Arg)	LOC126861339, SDHD (G12R)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 3 +3 more	GUncertain significance
Select item 6895	NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)	LOC126861339, SDHD (G12S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 1463345	NM_003002.4(SDHD):c.35G>T (p.Gly12Val)	LOC126861339, SDHD (G12V)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 465235	NM_003002.4(SDHD):c.35G>A (p.Gly12Asp)	LOC126861339, SDHD (G12D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 759313	NM_003002.4(SDHD):c.36T>G (p.Gly12=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Carney-Stratakis syndrome +3 more	GLikely benign
Select item 533789	NM_003002.4(SDHD):c.37G>T (p.Ala13Ser)	LOC126861339, SDHD (A13S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 533785	NM_003002.4(SDHD):c.37G>A (p.Ala13Thr)	LOC126861339, SDHD (A13T)	Single nucleotide variant (missense variant +1 more)	Paragangliomas with sensorineural hearing loss +3 more	GUncertain significance
Select item 840833	NM_003002.4(SDHD):c.38C>G (p.Ala13Gly)	LOC126861339, SDHD (A13G)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 3 +3 more	GUncertain significance
Select item 570468	NM_003002.4(SDHD):c.38C>T (p.Ala13Val)	LOC126861339, SDHD (A13V)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma +5 more	GUncertain significance
Select item 755556	NM_003002.4(SDHD):c.39C>T (p.Ala13=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Hereditary pheochromocytoma-paraganglioma +5 more	GLikely benign
Select item 412503	NM_003002.4(SDHD):c.40C>T (p.Leu14=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Pheochromocytoma +4 more	GLikely benign
Select item 3316914	NM_003002.4(SDHD):c.41T>C (p.Leu14Pro)	LOC126861339, SDHD (L14P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2921737	NM_003002.4(SDHD):c.42A>T (p.Leu14=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Cowden syndrome 3 +4 more	GLikely benign
Select item 239469	NM_003002.4(SDHD):c.42A>G (p.Leu14=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Cowden syndrome 3 +4 more	GLikely benign
Select item 3316916	NM_003002.4(SDHD):c.43G>A (p.Gly15Arg)	LOC126861339, SDHD (G15R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 941528	NM_003002.4(SDHD):c.44_52+24del	LOC126861339, SDHD	Deletion (splice donor variant)	Cowden syndrome 3 +3 more	GLikely pathogenic
Select item 650762	NM_003002.4(SDHD):c.43G>C (p.Gly15Arg)	LOC126861339, SDHD (G15R)	Single nucleotide variant (missense variant +1 more)	Paragangliomas with sensorineural hearing loss +3 more	GUncertain significance
Select item 2929526	NM_003002.4(SDHD):c.44G>A (p.Gly15Glu)	LOC126861339, SDHD (G15E)	Single nucleotide variant (missense variant +1 more)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 1004905	NM_003002.4(SDHD):c.44G>C (p.Gly15Ala)	LOC126861339, SDHD (G15A)	Single nucleotide variant (missense variant +1 more)	Paragangliomas with sensorineural hearing loss +4 more	GUncertain significance
Select item 1116320	NM_003002.4(SDHD):c.45A>T (p.Gly15=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Cowden syndrome 3 +3 more	GLikely benign
Select item 465242	NM_003002.4(SDHD):c.46G>T (p.Gly16Cys)	LOC126861339, SDHD (G16C)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma +5 more	GUncertain significance
Select item 465241	NM_003002.4(SDHD):c.46G>C (p.Gly16Arg)	LOC126861339, SDHD (G16R)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2941640	NM_003002.4(SDHD):c.47G>T (p.Gly16Val)	LOC126861339, SDHD (G16V)	Single nucleotide variant (missense variant +1 more)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 2929227	NM_003002.4(SDHD):c.47G>A (p.Gly16Asp)	LOC126861339, SDHD (G16D)	Single nucleotide variant (missense variant +1 more)	Carney-Stratakis syndrome +4 more	GUncertain significance
Select item 486443	NM_003002.4(SDHD):c.48C>T (p.Gly16=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Pheochromocytoma +5 more	GLikely benign
Select item 1319258	NM_003002.4(SDHD):c.49C>T (p.Arg17Ter)	LOC126861339, SDHD (R17*)	Single nucleotide variant (nonsense +1 more)	Paragangliomas 1 +6 more	GPathogenic
Select item 947980	NM_003002.4(SDHD):c.49C>G (p.Arg17Gly)	LOC126861339, SDHD (R17G)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 3 +7 more	GUncertain significance
Select item 1052437	NM_003002.4(SDHD):c.50G>A (p.Arg17Gln)	LOC126861339, SDHD (R17Q)	Single nucleotide variant (missense variant +1 more)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 1746005	NM_003002.4(SDHD):c.51A>G (p.Arg17=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 239474	NM_003002.4(SDHD):c.51A>C (p.Arg17=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Cowden syndrome 3 +4 more	GUncertain significance
Select item 1746035	NM_003002.4(SDHD):c.52+1_52+2delinsAA	LOC126861339, SDHD	Indel (splice donor variant)	Pheochromocytoma +4 more	GPathogenic/Likely pathogenic
Select item 825543	NM_003002.4(SDHD):c.52+1G>A	LOC126861339, SDHD	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 663854	NM_003002.4(SDHD):c.52+2T>C	LOC126861339, SDHD	Single nucleotide variant (splice donor variant)	Carney-Stratakis syndrome +3 more	GPathogenic
Select item 6894	NM_003002.4(SDHD):c.52+2T>G	LOC126861339, SDHD	Single nucleotide variant (splice donor variant)	Pheochromocytoma	GLikely pathogenic
Select item 1130962	NM_003002.4(SDHD):c.52+8dup	LOC126861339, SDHD	Duplication (intron variant)	Pheochromocytoma +3 more	GLikely benign

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