hydrocotyle striatal - ClinVar - NCBI

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The following term was not found in ClinVar: hydrocotyle.
Showing results for Hydrocotyle striata. Search instead for Hydrocotyle striata (0)

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1303192	NM_001111.5(ADAR):c.3556A>G (p.Lys1186Glu)	ADAR (K1141E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817052	NM_001111.5(ADAR):c.2565_2568del (p.Asn857fs)	ADAR, LOC126805874 (N831fs +5 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 126395	NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)	ADAR (P193A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 6 +5 more	GConflicting classifications of pathogenicity
Select item 3338030	NM_006186.4(NR4A2):c.536del (p.Lys179fs)	NR4A2 (K116fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GPathogenic
Select item 3338016	NM_006186.4(NR4A2):c.534del (p.Phe178fs)	NR4A2 (F115fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GPathogenic
Select item 3338026	NM_006186.4(NR4A2):c.5_6delinsTG (p.Pro2Leu)	NR4A2 (P2L)	Indel (missense variant +1 more)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GUncertain significance
Select item 377098	NM_001353108.3(CEP63):c.668A>G (p.Asn223Ser)	CEP63 (N223S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 2506594	NM_017426.4(NUP54):c.[1414G>A;1420C>T]	NUP54 (E424K +1 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 37, early-onset, with striatal lesions	GPathogenic
Select item 2506593	NM_017426.4(NUP54):c.1404ACA[2] (p.Gln471del)	NUP54 (Q423del +1 more)	Microsatellite (inframe_deletion +1 more)	Dystonia 37, early-onset, with striatal lesions	GPathogenic
Select item 2506592	NM_017426.4(NUP54):c.1126A>G (p.Lys376Glu)	NUP54 (K376E +1 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 37, early-onset, with striatal lesions	GPathogenic
Select item 2506591	NM_017426.4(NUP54):c.1073T>G (p.Ile358Ser)	NUP54 (I358S +1 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 37, early-onset, with striatal lesions	GPathogenic
Select item 3067935	NM_017426.4(NUP54):c.17G>T (p.Gly6Val)	LOC129992689, NUP54 (G6V)	Single nucleotide variant (missense variant +1 more)	Dystonia 37, early-onset, with striatal lesions	GUncertain significance
Select item 14008	NM_000345.4(SNCA):c.88G>C (p.Ala30Pro)	SNCA (A30P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant Parkinson disease 1	GLikely pathogenic
Select item 905760	NM_003719.5(PDE8B):c.-44C>T	PDE8B	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 354142	NM_003719.5(PDE8B):c.-24C>T	PDE8B	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 354143	NM_003719.5(PDE8B):c.-23G>T	PDE8B	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant striatal neurodegeneration type 1	GBenign
Select item 906272	NM_003719.5(PDE8B):c.-19G>T	PDE8B	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 354144	NM_003719.5(PDE8B):c.52C>A (p.Arg18=)	PDE8B	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 354145	NM_003719.5(PDE8B):c.63C>T (p.Asp21=)	PDE8B	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant striatal neurodegeneration type 1 +1 more	GBenign
Select item 235862	NM_003719.5(PDE8B):c.79del (p.Arg27fs)	PDE8B (R27fs)	Deletion (frameshift variant +2 more)	Autosomal dominant striatal neurodegeneration type 1	GPathogenic
Select item 6391	NM_003719.5(PDE8B):c.94_95delinsC (p.Val32fs)	PDE8B (V32fs)	Indel (frameshift variant +2 more)	Autosomal dominant striatal neurodegeneration type 1	GPathogenic
Select item 354146	NM_003719.5(PDE8B):c.125G>C (p.Gly42Ala)	PDE8B (G42A)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 354147	NM_003719.5(PDE8B):c.156C>T (p.Ala52=)	PDE8B	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 976373	NM_003719.5(PDE8B):c.211C>T (p.Arg71Cys)	PDE8B (R71C)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 354148	NM_003719.5(PDE8B):c.280A>G (p.Arg94Gly)	PDE8B (R94G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 235863	NM_003719.5(PDE8B):c.304G>T (p.Glu102Ter)	PDE8B (E102*)	Single nucleotide variant (nonsense +2 more)	Autosomal dominant striatal neurodegeneration type 1	GPathogenic
Select item 354149	NM_003719.5(PDE8B):c.362G>A (p.Arg121His)	PDE8B (R121H +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 354150	NM_003719.5(PDE8B):c.400-7G>T	PDE8B	Single nucleotide variant (intron variant)	Autosomal dominant striatal neurodegeneration type 1 +1 more	GBenign/Likely benign
Select item 354151	NM_003719.5(PDE8B):c.435C>T (p.Ser145=)	PDE8B	Single nucleotide variant (synonymous variant)	Autosomal dominant striatal neurodegeneration type 1 +1 more	GBenign
Select item 354152	NM_003719.5(PDE8B):c.552T>C (p.His184=)	PDE8B	Single nucleotide variant (synonymous variant)	Autosomal dominant striatal neurodegeneration type 1 +1 more	GBenign
Select item 907271	NM_003719.5(PDE8B):c.570C>T (p.Phe190=)	PDE8B	Single nucleotide variant (synonymous variant)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 354153	NM_003719.5(PDE8B):c.591-7A>G	PDE8B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 907272	NM_003719.5(PDE8B):c.593C>T (p.Ser198Leu)	PDE8B (S117L +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 354154	NM_003719.5(PDE8B):c.672G>A (p.Ala224=)	PDE8B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 907273	NM_003719.5(PDE8B):c.796C>T (p.Arg266Trp)	PDE8B (R246W +9 more)	Single nucleotide variant (missense variant)	Autosomal dominant striatal neurodegeneration type 1	GLikely benign
Select item 354155	NM_003719.5(PDE8B):c.858C>T (p.Ser286=)	PDE8B	Single nucleotide variant (synonymous variant)	Autosomal dominant striatal neurodegeneration type 1 +1 more	GBenign
Select item 903930	NM_003719.5(PDE8B):c.876+15C>T	PDE8B	Single nucleotide variant (intron variant)	Autosomal dominant striatal neurodegeneration type 1	GLikely benign
Select item 931113	NM_003719.5(PDE8B):c.878A>G (p.Tyr293Cys)	PDE8B (Y273C +8 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 354156	NM_003719.5(PDE8B):c.999A>G (p.Thr333=)	PDE8B	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 903931	NM_003719.5(PDE8B):c.1001G>A (p.Cys334Tyr)	PDE8B (C210Y +8 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 802122	NM_003719.5(PDE8B):c.1031T>G (p.Val344Gly)	PDE8B (V220G +12 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant striatal neurodegeneration type 1	GLikely benign
Select item 903932	NM_003719.5(PDE8B):c.1107-6T>A	PDE8B	Single nucleotide variant (intron variant)	Autosomal dominant striatal neurodegeneration type 1 +1 more	GLikely benign
Select item 354157	NM_003719.5(PDE8B):c.1152T>C (p.Thr384=)	PDE8B	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant striatal neurodegeneration type 1 +1 more	GBenign
Select item 903933	NM_003719.5(PDE8B):c.1207A>G (p.Thr403Ala)	PDE8B (T182A +19 more)	Single nucleotide variant (missense variant)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 903934	NM_003719.5(PDE8B):c.1211A>T (p.Glu404Val)	PDE8B (E186V +19 more)	Single nucleotide variant (missense variant)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 354158	NM_003719.5(PDE8B):c.1267A>G (p.Ile423Val)	PDE8B (I423V +19 more)	Single nucleotide variant (missense variant)	Autosomal dominant striatal neurodegeneration type 1 +1 more	GBenign
Select item 2505562	NM_003719.5(PDE8B):c.1276C>T (p.Arg426Ter)	PDE8B (R205* +19 more)	Single nucleotide variant (nonsense)	Autosomal dominant striatal neurodegeneration type 1	GLikely pathogenic
Select item 354159	NM_003719.5(PDE8B):c.1299G>A (p.Leu433=)	PDE8B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 354160	NM_003719.5(PDE8B):c.1309C>T (p.Arg437Cys)	PDE8B (R437C +19 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 354161	NM_003719.5(PDE8B):c.1317G>A (p.Pro439=)	PDE8B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 354162	NM_003719.5(PDE8B):c.1366-5G>A	PDE8B	Single nucleotide variant (intron variant)	PDE8B-related disorder +3 more	GBenign/Likely benign
Select item 905820	NM_003719.5(PDE8B):c.1447C>T (p.Arg483Trp)	PDE8B (R285W +19 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant striatal neurodegeneration type 1 +1 more	GUncertain significance
Select item 905821	NM_003719.5(PDE8B):c.1461G>A (p.Leu487=)	PDE8B	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 723075	NM_003719.5(PDE8B):c.1560G>A (p.Glu520=)	PDE8B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 931038	NM_003719.5(PDE8B):c.1576+4A>G	PDE8B	Single nucleotide variant (intron variant)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 354163	NM_003719.5(PDE8B):c.1698C>A (p.Ala566=)	PDE8B	Single nucleotide variant (synonymous variant)	PDE8B-related disorder +2 more	GBenign/Likely benign
Select item 354164	NM_003719.5(PDE8B):c.1764A>G (p.Glu588=)	PDE8B	Single nucleotide variant (synonymous variant)	Autosomal dominant striatal neurodegeneration type 1 +1 more	GBenign
Select item 906328	NM_003719.5(PDE8B):c.1831T>G (p.Ser611Ala)	PDE8B (S413A +20 more)	Single nucleotide variant (missense variant)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 354165	NM_003719.5(PDE8B):c.1881C>T (p.Thr627=)	PDE8B	Single nucleotide variant (synonymous variant)	Autosomal dominant striatal neurodegeneration type 1	GLikely benign
Select item 354166	NM_003719.5(PDE8B):c.1921G>A (p.Asp641Asn)	PDE8B (D641N +20 more)	Single nucleotide variant (missense variant)	Autosomal dominant striatal neurodegeneration type 1	GBenign
Select item 722643	NM_003719.5(PDE8B):c.2055G>A (p.Glu685=)	PDE8B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 354167	NM_003719.5(PDE8B):c.2115C>T (p.Phe705=)	PDE8B	Single nucleotide variant (synonymous variant)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 354168	NM_003719.5(PDE8B):c.2130G>A (p.Arg710=)	PDE8B	Single nucleotide variant (synonymous variant)	PDE8B-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 907334	NM_003719.5(PDE8B):c.2139T>C (p.Tyr713=)	PDE8B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 354169	NM_003719.5(PDE8B):c.2145G>A (p.Thr715=)	PDE8B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 354170	NM_003719.5(PDE8B):c.2235G>A (p.Lys745=)	PDE8B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 354171	NM_003719.5(PDE8B):c.2263G>A (p.Asp755Asn)	PDE8B (D755N +20 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 354172	NM_003719.5(PDE8B):c.2274C>T (p.Cys758=)	PDE8B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 354173	NM_003719.5(PDE8B):c.2343C>T (p.Asp781=)	PDE8B	Single nucleotide variant (synonymous variant)	PDE8B-related disorder +2 more	GLikely benign
Select item 354174	NM_003719.5(PDE8B):c.2545G>A (p.Asp849Asn)	PDE8B (D849N +20 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 354175	NM_003719.5(PDE8B):c.2622A>G (p.Leu874=)	PDE8B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 930740	NM_003719.5(PDE8B):c.2649dup (p.Asp884Ter)	PDE8B (D735* +20 more)	Duplication (nonsense +1 more)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 354176	NM_003719.5(PDE8B):c.*28C>G	PDE8B	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 903999	NM_003719.5(PDE8B):c.*30G>A	PDE8B	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant striatal neurodegeneration type 1	GLikely benign
Select item 354177	NM_003719.5(PDE8B):c.*57C>T	PDE8B	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant striatal neurodegeneration type 1	GBenign
Select item 354178	NM_003719.5(PDE8B):c.*63C>T	PDE8B	Single nucleotide variant (3 prime UTR variant)	Striatal Degeneration +1 more	GBenign
Select item 354179	NM_003719.5(PDE8B):c.*64G>A	PDE8B	Single nucleotide variant (3 prime UTR variant)	Striatal Degeneration +1 more	GBenign
Select item 354180	NM_003719.5(PDE8B):c.*70C>T	PDE8B	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant striatal neurodegeneration type 1	GBenign
Select item 354181	NM_003719.5(PDE8B):c.*179G>A	PDE8B	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 354182	NM_003719.5(PDE8B):c.*287C>T	PDE8B	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 354183	NM_003719.5(PDE8B):c.*296dup	PDE8B	Duplication (3 prime UTR variant)	Striatal Degeneration	GUncertain significance
Select item 905877	NM_003719.5(PDE8B):c.*341C>T	PDE8B	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant striatal neurodegeneration type 1	GBenign
Select item 354184	NM_003719.5(PDE8B):c.*436C>T	PDE8B	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 354185	NM_003719.5(PDE8B):c.*437A>G	PDE8B	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant striatal neurodegeneration type 1	GBenign
Select item 354186	NM_003719.5(PDE8B):c.*439C>T	PDE8B	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant striatal neurodegeneration type 1	GBenign
Select item 905878	NM_003719.5(PDE8B):c.*445G>A	PDE8B	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 354187	NM_003719.5(PDE8B):c.*456A>G	PDE8B	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant striatal neurodegeneration type 1	GBenign
Select item 354188	NM_003719.5(PDE8B):c.*480T>G	PDE8B	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant striatal neurodegeneration type 1	GBenign
Select item 354189	NM_003719.5(PDE8B):c.*497dup	PDE8B	Duplication (3 prime UTR variant)	Striatal Degeneration	GBenign
Select item 354190	NM_003719.5(PDE8B):c.*496A>G	PDE8B	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant striatal neurodegeneration type 1	GBenign
Select item 906394	NM_003719.5(PDE8B):c.*498C>A	PDE8B	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant striatal neurodegeneration type 1 +1 more	GUncertain significance
Select item 354191	NM_003719.5(PDE8B):c.506_510del	PDE8B	Deletion (3 prime UTR variant)	Striatal Degeneration	GUncertain significance
Select item 354192	NM_003719.5(PDE8B):c.*512T>C	PDE8B	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant striatal neurodegeneration type 1	GBenign
Select item 354193	NM_003719.5(PDE8B):c.*516A>G	PDE8B	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant striatal neurodegeneration type 1	GBenign
Select item 354194	NM_003719.5(PDE8B):c.*648T>G	PDE8B	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant striatal neurodegeneration type 1	GBenign
Select item 354195	NM_003719.5(PDE8B):c.694_696del	PDE8B	Deletion (3 prime UTR variant)	Striatal Degeneration	GUncertain significance
Select item 354196	NM_003719.5(PDE8B):c.*741A>T	PDE8B	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant striatal neurodegeneration type 1	GBenign
Select item 354197	NM_003719.5(PDE8B):c.*831T>C	PDE8B	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 354199	NM_003719.5(PDE8B):c.863_864del	PDE8B	Deletion (3 prime UTR variant)	Striatal Degeneration	GBenign
Select item 354198	NM_003719.5(PDE8B):c.*864del	PDE8B	Deletion (3 prime UTR variant)	Striatal Degeneration	GUncertain significance

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