ClinVar for MedGen (Select 314033) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 101

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 983126	NM_138420.4(AHNAK2):c.6406_6408delinsGAC (p.Gln2136Asp)	AHNAK2 (Q2036D +1 more)	Indel (missense variant)	Migraine +1 more	GUncertain significance
Select item 812930	NC_000022.11:g.20042177_20075233del	TANGO2	Deletion	Global developmental delay +2 more	GPathogenic
Select item 560369	NM_001127222.2(CACNA1A):c.6689A>G (p.Gln2230Arg)	CACNA1A (Q2231R +3 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 369311	NM_000726.4(CACNB4):c.-70G>A	CACNB4, LOC129934925	Single nucleotide variant (5 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GLikely benign
Select item 353350	NM_004172.5(SLC1A3):c.*1282T>C	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia	GLikely benign
Select item 353342	NM_004172.5(SLC1A3):c.970_976del	SLC1A3	Deletion (3 prime UTR variant)	Hereditary episodic ataxia	GBenign
Select item 353339	NM_004172.5(SLC1A3):c.*617dup	SLC1A3	Duplication (3 prime UTR variant)	Hereditary episodic ataxia	GUncertain significance
Select item 353337	NM_004172.5(SLC1A3):c.552_553del	SLC1A3	Deletion (3 prime UTR variant)	Hereditary episodic ataxia	GLikely benign
Select item 353332	NM_004172.5(SLC1A3):c.*313dup	SLC1A3	Duplication (3 prime UTR variant)	Hereditary episodic ataxia	GUncertain significance
Select item 353329	NM_004172.5(SLC1A3):c.*174del	SLC1A3	Deletion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353305	NM_004172.4(SLC1A3):c.-280C>T	SLC1A3	Single nucleotide variant	Hereditary episodic ataxia	GUncertain significance
Select item 353304	NM_004172.4(SLC1A3):c.-449C>T	SLC1A3	Single nucleotide variant	Hereditary episodic ataxia	GLikely benign
Select item 331637	NM_000726.4(CACNB4):c.-57G>T	CACNB4, LOC129934925	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 331635	NM_000726.5(CACNB4):c.177G>A (p.Pro59=)	CACNB4	Single nucleotide variant (synonymous variant +1 more)	Juvenile myoclonic epilepsy +1 more	GLikely benign
Select item 331630	NM_000726.5(CACNB4):c.1278T>C (p.Tyr426=)	CACNB4	Single nucleotide variant (synonymous variant +1 more)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331629	NM_000726.5(CACNB4):c.*151del	CACNB4	Deletion (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331628	NM_000726.5(CACNB4):c.*151dup	CACNB4	Duplication (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331625	NM_000726.5(CACNB4):c.442_443del	CACNB4	Deletion (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331624	NM_000726.5(CACNB4):c.*454del	CACNB4	Deletion (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331623	NM_000726.5(CACNB4):c.*454dup	CACNB4	Duplication (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331619	NM_000726.5(CACNB4):c.*624del	CACNB4	Deletion (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GBenign
Select item 331617	NM_000726.5(CACNB4):c.*787del	CACNB4	Deletion (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GLikely benign
Select item 331606	NM_000726.5(CACNB4):c.*1501del	CACNB4	Deletion (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 331605	NM_000726.5(CACNB4):c.*1501dup	CACNB4	Duplication (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 331604	NM_000726.5(CACNB4):c.*1520del	CACNB4	Deletion (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 331596	NM_000726.5(CACNB4):c.1910_1911del	CACNB4	Deletion (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GLikely benign
Select item 331589	NM_000726.5(CACNB4):c.*2188del	CACNB4	Deletion (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GBenign
Select item 331560	NM_000726.5(CACNB4):c.*5122C>T	CACNB4	Single nucleotide variant (3 prime UTR variant)	Juvenile myoclonic epilepsy +1 more	GUncertain significance
Select item 331549	NM_000726.5(CACNB4):c.*5995dup	CACNB4	Duplication (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309227	NM_000217.3(KCNA1):c.*5212C>T	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GConflicting classifications of pathogenicity
Select item 309226	NM_000217.3(KCNA1):c.*5209C>T	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +1 more	GBenign/Likely benign
Select item 309224	NM_000217.3(KCNA1):c.*5145T>C	KCNA1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 309223	NM_000217.3(KCNA1):c.*5141G>A	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +2 more	GBenign
Select item 309222	NM_000217.3(KCNA1):c.*5136A>G	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309221	NM_000217.3(KCNA1):c.*5139dup	KCNA1	Duplication (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309219	NM_000217.3(KCNA1):c.*4957C>A	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +1 more	GConflicting classifications of pathogenicity
Select item 309217	NM_000217.3(KCNA1):c.*4903C>G	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309214	NM_000217.3(KCNA1):c.*4635G>C	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +1 more	GBenign/Likely benign
Select item 309213	NM_000217.3(KCNA1):c.*4439C>T	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GBenign
Select item 309212	NM_000217.3(KCNA1):c.*4303A>T	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309210	NM_000217.3(KCNA1):c.*4236C>T	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309209	NM_000217.3(KCNA1):c.*4234A>G	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +1 more	GBenign/Likely benign
Select item 309208	NM_000217.3(KCNA1):c.*4177C>T	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309207	NM_000217.3(KCNA1):c.*4152A>G	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309205	NM_000217.3(KCNA1):c.*3724C>T	KCNA1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 309204	NM_000217.3(KCNA1):c.*3588T>C	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 309202	NM_000217.3(KCNA1):c.*3495G>C	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309198	NM_000217.3(KCNA1):c.*3185del	KCNA1	Deletion (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309195	NM_000217.3(KCNA1):c.*2987G>A	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +1 more	GConflicting classifications of pathogenicity
Select item 309194	NM_000217.3(KCNA1):c.*2758G>A	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 309193	NM_000217.3(KCNA1):c.*2727C>T	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +1 more	GBenign/Likely benign
Select item 309191	NM_000217.3(KCNA1):c.*2596A>T	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +1 more	GBenign/Likely benign
Select item 309190	NM_000217.3(KCNA1):c.*2554C>T	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 309189	NM_000217.3(KCNA1):c.*2333G>A	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +2 more	GBenign
Select item 309185	NM_000217.3(KCNA1):c.2277_2278del	KCNA1	Deletion (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GBenign
Select item 309184	NM_000217.3(KCNA1):c.*2278dup	KCNA1	Duplication (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309183	NM_000217.3(KCNA1):c.*2245C>G	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 309182	NM_000217.3(KCNA1):c.*2174C>T	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +2 more	GBenign/Likely benign
Select item 309181	NM_000217.3(KCNA1):c.*2123A>G	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +2 more	GBenign/Likely benign
Select item 309180	NM_000217.3(KCNA1):c.*2080G>A	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +1 more	GBenign/Likely benign
Select item 309179	NM_000217.3(KCNA1):c.*2005G>A	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +2 more	GBenign/Likely benign
Select item 309178	NM_000217.3(KCNA1):c.*2000C>T	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 309174	NM_000217.3(KCNA1):c.*1577A>T	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +1 more	GBenign/Likely benign
Select item 309172	NM_000217.3(KCNA1):c.*1522C>G	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +2 more	GBenign/Likely benign
Select item 309171	NM_000217.3(KCNA1):c.*1504G>A	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309170	NM_000217.3(KCNA1):c.*1469G>A	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 309169	NM_000217.3(KCNA1):c.*1444CAAA[4]	KCNA1	Microsatellite (3 prime UTR variant)	Myokymia +1 more	GUncertain significance
Select item 309168	NM_000217.3(KCNA1):c.*1444CAAA[6]	KCNA1	Microsatellite (3 prime UTR variant)	Myokymia +1 more	GLikely benign
Select item 309167	NM_000217.3(KCNA1):c.*1308C>T	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GConflicting classifications of pathogenicity
Select item 309165	NM_000217.3(KCNA1):c.*965A>T	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 309164	NM_000217.3(KCNA1):c.*923T>C	KCNA1	Single nucleotide variant (3 prime UTR variant)	Myokymia +1 more	GLikely benign
Select item 309162	NM_000217.3(KCNA1):c.*829A>G	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309161	NM_000217.3(KCNA1):c.*804C>A	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309160	NM_000217.3(KCNA1):c.*786G>A	KCNA1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 309159	NM_000217.3(KCNA1):c.*724G>A	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309157	NM_000217.3(KCNA1):c.*517T>C	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +1 more	GBenign/Likely benign
Select item 309156	NM_000217.3(KCNA1):c.*511A>G	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309155	NM_000217.3(KCNA1):c.*486G>C	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309153	NM_000217.3(KCNA1):c.*234A>T	KCNA1	Single nucleotide variant (3 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309152	NM_000217.3(KCNA1):c.*228A>C	KCNA1	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 1 +2 more	GBenign/Likely benign
Select item 309148	NM_000217.3(KCNA1):c.1464G>A (p.Lys488=)	KCNA1	Single nucleotide variant (synonymous variant)	Hereditary episodic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 309147	NM_000217.3(KCNA1):c.1364T>A (p.Met455Lys)	KCNA1 (M455K)	Single nucleotide variant (missense variant)	Hereditary episodic ataxia +2 more	GUncertain significance
Select item 309146	NM_000217.3(KCNA1):c.1125C>T (p.Tyr375=)	KCNA1	Single nucleotide variant (synonymous variant)	Hereditary episodic ataxia +4 more	GBenign/Likely benign
Select item 309143	NM_000217.3(KCNA1):c.303C>T (p.Arg101=)	KCNA1	Single nucleotide variant (synonymous variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309142	NM_000217.3(KCNA1):c.-27C>T	KCNA1, LOC130007218	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309141	NM_000217.3(KCNA1):c.-110G>A	KCNA1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 309140	NM_000217.3(KCNA1):c.-134G>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1 +2 more	GBenign/Likely benign
Select item 309139	NM_000217.3(KCNA1):c.-157T>A	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GConflicting classifications of pathogenicity
Select item 309136	NM_000217.3(KCNA1):c.-300ACA[3]	KCNA1	Microsatellite (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309135	NM_000217.3(KCNA1):c.-428C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1 +1 more	GBenign/Likely benign
Select item 309133	NM_000217.3(KCNA1):c.-478dup	KCNA1	Duplication (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GLikely benign
Select item 309132	NM_000217.3(KCNA1):c.-487A>G	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309130	NM_000217.3(KCNA1):c.-684G>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309129	NM_000217.3(KCNA1):c.-731C>G	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GBenign
Select item 309128	NM_000217.3(KCNA1):c.-839C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1 +1 more	GBenign
Select item 309127	NM_000217.3(KCNA1):c.-865AG[2]	KCNA1	Microsatellite (5 prime UTR variant)	Myokymia +1 more	GLikely benign
Select item 309125	NM_000217.3(KCNA1):c.-968C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309124	NM_000217.3(KCNA1):c.-1034C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 206978	NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile)	SCN2A (S987I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 68421	NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met)	CACNA1A (T501M +1 more)	Single nucleotide variant (missense variant)	Hereditary episodic ataxia +3 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2