ClinVar for Gene (Select 57524) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338428	GRCh37/hg19 16p13.3(chr16:2229815-2582030)x4	ABCA3, AMDHD2 +14 more	Copy number gain	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	GLikely pathogenic
Select item 3263390	NM_020764.4(CASKIN1):c.2798G>C (p.Ser933Thr)	CASKIN1 (S933T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263389	NM_020764.4(CASKIN1):c.2432T>C (p.Leu811Pro)	CASKIN1 (L811P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263388	NM_020764.4(CASKIN1):c.1607A>C (p.Asp536Ala)	CASKIN1 (D536A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263387	NM_020764.4(CASKIN1):c.3941C>T (p.Pro1314Leu)	CASKIN1 (P1314L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263386	NM_020764.4(CASKIN1):c.1069C>T (p.Pro357Ser)	CASKIN1 (P357S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263385	NM_020764.4(CASKIN1):c.670G>A (p.Ala224Thr)	CASKIN1 (A224T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263384	NM_020764.4(CASKIN1):c.784C>T (p.His262Tyr)	CASKIN1 (H262Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263383	NM_020764.4(CASKIN1):c.2278C>T (p.Pro760Ser)	CASKIN1 (P760S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263382	NM_020764.4(CASKIN1):c.2750G>A (p.Ser917Asn)	CASKIN1 (S917N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263380	NM_020764.4(CASKIN1):c.3847C>T (p.Pro1283Ser)	CASKIN1 (P1283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263379	NM_020764.4(CASKIN1):c.1565G>A (p.Arg522Gln)	CASKIN1 (R522Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263378	NM_020764.4(CASKIN1):c.1937C>T (p.Ser646Phe)	CASKIN1 (S646F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263377	NM_020764.4(CASKIN1):c.2618C>T (p.Pro873Leu)	CASKIN1 (P873L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263376	NM_020764.4(CASKIN1):c.1414A>C (p.Lys472Gln)	CASKIN1 (K472Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263375	NM_020764.4(CASKIN1):c.2689G>A (p.Glu897Lys)	CASKIN1 (E897K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263374	NM_020764.4(CASKIN1):c.2095C>T (p.Arg699Trp)	CASKIN1 (R699W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263373	NM_020764.4(CASKIN1):c.1219G>A (p.Ala407Thr)	CASKIN1 (A407T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263372	NM_020764.4(CASKIN1):c.2483C>T (p.Thr828Met)	CASKIN1 (T828M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263371	NM_020764.4(CASKIN1):c.2461C>T (p.Arg821Cys)	CASKIN1 (R821C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263369	NM_020764.4(CASKIN1):c.440C>T (p.Ser147Leu)	CASKIN1 (S147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263368	NM_020764.4(CASKIN1):c.1343C>T (p.Pro448Leu)	CASKIN1 (P448L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243525	NC_000016.9:g.(?_1822222)_(2550959_?)dup	ABCA3, BRICD5 +39 more	Duplication	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 3243458	NC_000016.9:g.(?_2104449)_(2286921_?)del	BRICD5, CASKIN1 +9 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3137520	NM_020764.4(CASKIN1):c.986C>T (p.Thr329Met)	CASKIN1 (T329M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137519	NM_020764.4(CASKIN1):c.727A>G (p.Ser243Gly)	CASKIN1 (S243G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137518	NM_020764.4(CASKIN1):c.4291G>C (p.Glu1431Gln)	CASKIN1 (E1431Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137516	NM_020764.4(CASKIN1):c.3920C>T (p.Pro1307Leu)	CASKIN1 (P1307L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137515	NM_020764.4(CASKIN1):c.3899C>T (p.Ala1300Val)	CASKIN1 (A1300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137514	NM_020764.4(CASKIN1):c.3812C>T (p.Ser1271Phe)	CASKIN1 (S1271F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137513	NM_020764.4(CASKIN1):c.3416A>G (p.Lys1139Arg)	CASKIN1 (K1139R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137512	NM_020764.4(CASKIN1):c.3236G>A (p.Arg1079Gln)	CASKIN1 (R1079Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137511	NM_020764.4(CASKIN1):c.3075G>C (p.Glu1025Asp)	CASKIN1 (E1025D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137510	NM_020764.4(CASKIN1):c.3055G>T (p.Ala1019Ser)	CASKIN1 (A1019S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137509	NM_020764.4(CASKIN1):c.2778C>T (p.Ala926=)	CASKIN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3137508	NM_020764.4(CASKIN1):c.2765C>T (p.Ala922Val)	CASKIN1 (A922V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137507	NM_020764.4(CASKIN1):c.2711C>T (p.Ala904Val)	CASKIN1 (A904V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137506	NM_020764.4(CASKIN1):c.2674G>A (p.Glu892Lys)	CASKIN1 (E892K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137505	NM_020764.4(CASKIN1):c.2626C>T (p.Pro876Ser)	CASKIN1 (P876S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137504	NM_020764.4(CASKIN1):c.2518G>A (p.Val840Met)	CASKIN1 (V840M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137503	NM_020764.4(CASKIN1):c.2470C>A (p.Pro824Thr)	CASKIN1 (P824T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137502	NM_020764.4(CASKIN1):c.2446C>T (p.Arg816Cys)	CASKIN1 (R816C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137501	NM_020764.4(CASKIN1):c.2440A>C (p.Thr814Pro)	CASKIN1 (T814P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137500	NM_020764.4(CASKIN1):c.2423C>T (p.Pro808Leu)	CASKIN1 (P808L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137499	NM_020764.4(CASKIN1):c.2221G>A (p.Glu741Lys)	CASKIN1 (E741K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137498	NM_020764.4(CASKIN1):c.2215C>T (p.Pro739Ser)	CASKIN1 (P739S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137497	NM_020764.4(CASKIN1):c.2071C>T (p.Arg691Trp)	CASKIN1 (R691W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137496	NM_020764.4(CASKIN1):c.1849C>T (p.Pro617Ser)	CASKIN1 (P617S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137495	NM_020764.4(CASKIN1):c.1831G>T (p.Ala611Ser)	CASKIN1 (A611S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137494	NM_020764.4(CASKIN1):c.1426G>C (p.Ala476Pro)	CASKIN1 (A476P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137493	NM_020764.4(CASKIN1):c.1357G>A (p.Ala453Thr)	CASKIN1 (A453T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137492	NM_020764.4(CASKIN1):c.1083G>C (p.Gln361His)	CASKIN1 (Q361H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063473	GRCh37/hg19 16p13.3(chr16:2130809-2285561)x1	BRICD5, CASKIN1 +8 more	Copy number loss	not specified	GPathogenic
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2646055	NM_020764.4(CASKIN1):c.266C>T (p.Ala89Val)	CASKIN1 (A89V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646054	NM_020764.4(CASKIN1):c.618-5G>A	CASKIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2646053	NM_020764.4(CASKIN1):c.1752C>T (p.Ile584=)	CASKIN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646052	NM_020764.4(CASKIN1):c.3495G>A (p.Pro1165=)	CASKIN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2612478	NM_020764.4(CASKIN1):c.2057C>T (p.Pro686Leu)	CASKIN1 (P686L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611720	NM_020764.4(CASKIN1):c.2378G>A (p.Gly793Glu)	CASKIN1 (G793E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609800	NM_020764.4(CASKIN1):c.1530C>A (p.Asp510Glu)	CASKIN1 (D510E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605648	NM_020764.4(CASKIN1):c.1310C>T (p.Pro437Leu)	CASKIN1 (P437L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595587	NM_020764.4(CASKIN1):c.3235C>T (p.Arg1079Trp)	CASKIN1 (R1079W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595278	NM_020764.4(CASKIN1):c.745G>A (p.Val249Met)	CASKIN1 (V249M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593965	NM_020764.4(CASKIN1):c.1234G>A (p.Val412Ile)	CASKIN1 (V412I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2593890	NM_020764.4(CASKIN1):c.1043G>A (p.Arg348Gln)	CASKIN1 (R348Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592259	NM_020764.4(CASKIN1):c.3784C>G (p.Arg1262Gly)	CASKIN1 (R1262G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589863	NM_020764.4(CASKIN1):c.2290C>T (p.Arg764Trp)	CASKIN1 (R764W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569680	NM_020764.4(CASKIN1):c.1898C>T (p.Ser633Leu)	CASKIN1 (S633L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569612	NM_020764.4(CASKIN1):c.2971G>A (p.Gly991Ser)	CASKIN1 (G991S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561156	NM_020764.4(CASKIN1):c.997C>T (p.Arg333Trp)	CASKIN1 (R333W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557784	NM_020764.4(CASKIN1):c.3487C>T (p.Pro1163Ser)	CASKIN1 (P1163S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557671	NM_020764.4(CASKIN1):c.2147G>A (p.Gly716Glu)	CASKIN1 (G716E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555234	NM_020764.4(CASKIN1):c.3226A>G (p.Thr1076Ala)	CASKIN1 (T1076A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547997	NM_020764.4(CASKIN1):c.1946T>A (p.Met649Lys)	CASKIN1 (M649K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547289	NM_020764.4(CASKIN1):c.650G>T (p.Arg217Leu)	CASKIN1 (R217L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533143	NM_020764.4(CASKIN1):c.3430G>A (p.Glu1144Lys)	CASKIN1 (E1144K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532207	NM_020764.4(CASKIN1):c.3460G>A (p.Ala1154Thr)	CASKIN1 (A1154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531281	NM_020764.4(CASKIN1):c.1352C>G (p.Ala451Gly)	CASKIN1 (A451G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528768	NM_020764.4(CASKIN1):c.2223G>T (p.Glu741Asp)	CASKIN1 (E741D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525687	NM_020764.4(CASKIN1):c.3439A>G (p.Thr1147Ala)	CASKIN1 (T1147A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524834	NM_020764.4(CASKIN1):c.124G>A (p.Val42Ile)	CASKIN1 (V42I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523094	NM_020764.4(CASKIN1):c.2570C>T (p.Pro857Leu)	CASKIN1 (P857L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517787	NM_020764.4(CASKIN1):c.3200G>C (p.Ser1067Thr)	CASKIN1 (S1067T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512193	NM_020764.4(CASKIN1):c.1141C>G (p.Pro381Ala)	CASKIN1 (P381A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493253	NM_020764.4(CASKIN1):c.2812G>A (p.Val938Met)	CASKIN1 (V938M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486383	NM_020764.4(CASKIN1):c.4018G>A (p.Ala1340Thr)	CASKIN1 (A1340T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483421	NM_020764.4(CASKIN1):c.3952C>T (p.Pro1318Ser)	CASKIN1 (P1318S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478423	NM_020764.4(CASKIN1):c.2165C>T (p.Ser722Phe)	CASKIN1 (S722F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470948	NM_020764.4(CASKIN1):c.2336C>T (p.Thr779Met)	CASKIN1 (T779M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468897	NM_020764.4(CASKIN1):c.3055G>A (p.Ala1019Thr)	CASKIN1 (A1019T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467732	NM_020764.4(CASKIN1):c.1360G>A (p.Gly454Arg)	CASKIN1 (G454R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460888	NM_020764.4(CASKIN1):c.853C>A (p.Gln285Lys)	CASKIN1 (Q285K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457459	NM_020764.4(CASKIN1):c.3955C>T (p.Pro1319Ser)	CASKIN1 (P1319S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455010	NM_020764.4(CASKIN1):c.539G>A (p.Arg180Gln)	CASKIN1 (R180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2397429	NM_020764.4(CASKIN1):c.4096G>A (p.Gly1366Arg)	CASKIN1 (G1366R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392825	NM_020764.4(CASKIN1):c.3922C>T (p.Pro1308Ser)	CASKIN1 (P1308S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373485	NM_020764.4(CASKIN1):c.2275G>A (p.Val759Met)	CASKIN1 (V759M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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