23116[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 149032	GRCh38/hg38 14q21.2(chr14:44283179-44978212)x3	C14orf28, FSCB +13 more	Copy number gain	See cases	GUncertain significance
Select item 3181010	NM_001308120.2(TOGARAM1):c.8C>T (p.Ala3Val)	TOGARAM1 (A3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3250610	NM_001308120.2(TOGARAM1):c.9T>C (p.Ala3=)	TOGARAM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3026845	NM_001308120.2(TOGARAM1):c.24G>A (p.Leu8=)	TOGARAM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3180980	NM_001308120.2(TOGARAM1):c.32T>C (p.Leu11Pro)	TOGARAM1 (L11P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180981	NM_001308120.2(TOGARAM1):c.34C>T (p.Pro12Ser)	TOGARAM1 (P12S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181004	NM_001308120.2(TOGARAM1):c.59A>G (p.Tyr20Cys)	TOGARAM1 (Y20C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181007	NM_001308120.2(TOGARAM1):c.74G>A (p.Arg25His)	TOGARAM1 (R25H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181008	NM_001308120.2(TOGARAM1):c.83C>G (p.Pro28Arg)	TOGARAM1 (P28R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3239617	NM_001308120.2(TOGARAM1):c.87_88delinsT (p.Ala30fs)	TOGARAM1 (A30fs)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3181014	NM_001308120.2(TOGARAM1):c.97A>G (p.Thr33Ala)	TOGARAM1 (T33A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569188	NM_001308120.2(TOGARAM1):c.146A>G (p.Tyr49Cys)	TOGARAM1 (Y49C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3180959	NM_001308120.2(TOGARAM1):c.149T>G (p.Phe50Cys)	TOGARAM1 (F50C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3180978	NM_001308120.2(TOGARAM1):c.305T>A (p.Leu102His)	TOGARAM1 (L102H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2662671	NM_001308120.2(TOGARAM1):c.314C>A (p.Thr105Asn)	TOGARAM1 (T105N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3327974	NM_001308120.2(TOGARAM1):c.335C>G (p.Ala112Gly)	TOGARAM1 (A112G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612467	NM_001308120.2(TOGARAM1):c.341A>G (p.Gln114Arg)	TOGARAM1 (Q114R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180984	NM_001308120.2(TOGARAM1):c.364C>T (p.Arg122Trp)	TOGARAM1 (R122W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615855	NM_001308120.2(TOGARAM1):c.394C>G (p.Arg132Gly)	TOGARAM1 (R132G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181005	NM_001308120.2(TOGARAM1):c.602A>T (p.Gln201Leu)	TOGARAM1 (Q201L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181006	NM_001308120.2(TOGARAM1):c.656T>C (p.Ile219Thr)	TOGARAM1 (I219T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644197	NM_001308120.2(TOGARAM1):c.744G>A (p.Leu248=)	TOGARAM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2600391	NM_001308120.2(TOGARAM1):c.775T>C (p.Ser259Pro)	TOGARAM1 (S259P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465142	NM_001308120.2(TOGARAM1):c.782C>G (p.Ala261Gly)	TOGARAM1 (A261G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181009	NM_001308120.2(TOGARAM1):c.842A>G (p.Gln281Arg)	TOGARAM1 (Q281R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539688	NM_001308120.2(TOGARAM1):c.899C>T (p.Pro300Leu)	TOGARAM1 (P300L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181011	NM_001308120.2(TOGARAM1):c.902C>G (p.Ser301Cys)	TOGARAM1 (S301C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181012	NM_001308120.2(TOGARAM1):c.962A>G (p.Tyr321Cys)	TOGARAM1 (Y321C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327988	NM_001308120.2(TOGARAM1):c.973C>T (p.Leu325Phe)	TOGARAM1 (L325F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327977	NM_001308120.2(TOGARAM1):c.980C>G (p.Ala327Gly)	TOGARAM1 (A327G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180954	NM_001308120.2(TOGARAM1):c.1034A>G (p.Asn345Ser)	TOGARAM1 (N345S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644198	NM_001308120.2(TOGARAM1):c.1047G>C (p.Gly349=)	TOGARAM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 979055	NM_001308120.2(TOGARAM1):c.1084C>T (p.Gln362Ter)	TOGARAM1 (Q362*)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis	GPathogenic
Select item 3180955	NM_001308120.2(TOGARAM1):c.1090G>A (p.Asp364Asn)	TOGARAM1 (D364N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 917940	NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp)	TOGARAM1 (R368W)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis	GPathogenic
Select item 979059	NM_001308120.2(TOGARAM1):c.1112C>A (p.Ala371Asp)	TOGARAM1 (A371D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 979053	NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro)	TOGARAM1 (L375P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3327986	NM_001308120.2(TOGARAM1):c.1139G>A (p.Gly380Glu)	TOGARAM1 (G380E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180956	NM_001308120.2(TOGARAM1):c.1285G>A (p.Val429Ile)	TOGARAM1 (V429I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644199	NM_001308120.2(TOGARAM1):c.1293G>A (p.Gln431=)	TOGARAM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2495984	NM_001308120.2(TOGARAM1):c.1363T>A (p.Tyr455Asn)	TOGARAM1 (Y455N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180957	NM_001308120.2(TOGARAM1):c.1367T>C (p.Met456Thr)	TOGARAM1 (M456T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1723745	NM_001308120.2(TOGARAM1):c.1397T>C (p.Val466Ala)	TOGARAM1 (V466A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025015	NM_001308120.2(TOGARAM1):c.1494G>A (p.Leu498=)	TOGARAM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3180960	NM_001308120.2(TOGARAM1):c.1597G>A (p.Ala533Thr)	TOGARAM1 (A533T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180961	NM_001308120.2(TOGARAM1):c.1661A>G (p.Asp554Gly)	TOGARAM1 (D554G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180962	NM_001308120.2(TOGARAM1):c.1703C>T (p.Ala568Val)	TOGARAM1 (A568V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180963	NM_001308120.2(TOGARAM1):c.1726A>G (p.Lys576Glu)	TOGARAM1 (K576E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3257027	NM_001308120.2(TOGARAM1):c.1783TCT[1] (p.Ser596del)	TOGARAM1 (S596del)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 3180964	NM_001308120.2(TOGARAM1):c.1787C>A (p.Ser596Tyr)	TOGARAM1 (S596Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644200	NM_001308120.2(TOGARAM1):c.1797T>C (p.Gly599=)	TOGARAM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3180965	NM_001308120.2(TOGARAM1):c.1829C>T (p.Thr610Met)	TOGARAM1 (T610M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180966	NM_001308120.2(TOGARAM1):c.1963G>A (p.Gly655Arg)	TOGARAM1 (G655R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327983	NM_001308120.2(TOGARAM1):c.1984G>A (p.Glu662Lys)	TOGARAM1 (E662K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327978	NM_001308120.2(TOGARAM1):c.1994A>G (p.Gln665Arg)	TOGARAM1 (Q665R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180967	NM_001308120.2(TOGARAM1):c.2000G>T (p.Gly667Val)	TOGARAM1 (G667V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644201	NM_001308120.2(TOGARAM1):c.2016C>T (p.Asn672=)	TOGARAM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3327979	NM_001308120.2(TOGARAM1):c.2144G>A (p.Arg715Lys)	TOGARAM1 (R715K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327976	NM_001308120.2(TOGARAM1):c.2245G>T (p.Ala749Ser)	TOGARAM1 (A749S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067719	NM_001308120.2(TOGARAM1):c.2246C>T (p.Ala749Val)	TOGARAM1 (A749V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2517936	NM_001308120.2(TOGARAM1):c.2251C>T (p.Leu751Phe)	TOGARAM1 (L751F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644202	NM_001308120.2(TOGARAM1):c.2329C>T (p.Gln777Ter)	TOGARAM1 (Q777*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 2644203	NM_001308120.2(TOGARAM1):c.2338+1del	TOGARAM1	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1703763	NM_001308120.2(TOGARAM1):c.2338+3A>G	TOGARAM1	Single nucleotide variant (intron variant)	Joubert syndrome 37	GLikely pathogenic
Select item 984438	NM_001308120.2:c.2339_3238del	TOGARAM1	Deletion	Familial aplasia of the vermis	GPathogenic
Select item 3180969	NM_001308120.2(TOGARAM1):c.2491T>A (p.Ser831Thr)	TOGARAM1 (S831T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327982	NM_001308120.2(TOGARAM1):c.2514G>T (p.Lys838Asn)	TOGARAM1 (K838N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327975	NM_001308120.2(TOGARAM1):c.2554C>A (p.Pro852Thr)	TOGARAM1 (P852T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180970	NM_001308120.2(TOGARAM1):c.2621C>G (p.Ser874Cys)	TOGARAM1 (S874C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180971	NM_001308120.2(TOGARAM1):c.2624A>G (p.Asp875Gly)	TOGARAM1 (D875G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180972	NM_001308120.2(TOGARAM1):c.2716G>A (p.Gly906Ser)	TOGARAM1 (G906S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606813	NM_001308120.2(TOGARAM1):c.2842G>A (p.Asp948Asn)	TOGARAM1 (D948N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180973	NM_001308120.2(TOGARAM1):c.2881G>T (p.Asp961Tyr)	TOGARAM1 (D961Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644204	NM_001308120.2(TOGARAM1):c.2892G>A (p.Leu964=)	TOGARAM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2441935	NM_001308120.2(TOGARAM1):c.2921G>T (p.Arg974Met)	TOGARAM1 (R974M)	Single nucleotide variant (missense variant)	Joubert syndrome 37	GUncertain significance
Select item 3180974	NM_001308120.2(TOGARAM1):c.2930G>A (p.Arg977His)	TOGARAM1 (R977H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600740	NM_001308120.2(TOGARAM1):c.2969G>A (p.Ser990Asn)	TOGARAM1 (S990N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180975	NM_001308120.2(TOGARAM1):c.3011A>T (p.Asp1004Val)	TOGARAM1 (D1004V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180976	NM_001308120.2(TOGARAM1):c.3029C>T (p.Pro1010Leu)	TOGARAM1 (P1010L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180977	NM_001308120.2(TOGARAM1):c.3049A>G (p.Asn1017Asp)	TOGARAM1 (N1017D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180979	NM_001308120.2(TOGARAM1):c.3130A>G (p.Arg1044Gly)	TOGARAM1 (R1044G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644205	NM_001308120.2(TOGARAM1):c.3141A>G (p.Ser1047=)	TOGARAM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3327980	NM_001308120.2(TOGARAM1):c.3157T>A (p.Phe1053Ile)	TOGARAM1 (F1053I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327987	NM_001308120.2(TOGARAM1):c.3193G>A (p.Ala1065Thr)	TOGARAM1 (A1065T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1703106	NM_001308120.2(TOGARAM1):c.3214A>T (p.Ile1072Phe)	TOGARAM1 (I1072F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1810434	NM_001308120.2(TOGARAM1):c.3238+3A>G	TOGARAM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3338419	NM_001308120.2(TOGARAM1):c.3239-13G>A	TOGARAM1	Single nucleotide variant (intron variant)	Joubert syndrome 37	GUncertain significance
Select item 979058	NM_001308120.2(TOGARAM1):c.3248C>A (p.Ser1083Ter)	TOGARAM1 (S1083*)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis	GPathogenic
Select item 3025048	NM_001308120.2(TOGARAM1):c.3330C>T (p.Gly1110=)	TOGARAM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2591600	NM_001308120.2(TOGARAM1):c.3331G>A (p.Val1111Ile)	TOGARAM1 (V1111I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3061827	NM_001308120.2(TOGARAM1):c.3361A>G (p.Thr1121Ala)	TOGARAM1 (T1121A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3327973	NM_001308120.2(TOGARAM1):c.3391G>A (p.Glu1131Lys)	TOGARAM1 (E1131K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327985	NM_001308120.2(TOGARAM1):c.3408T>A (p.Phe1136Leu)	TOGARAM1 (F1136L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180982	NM_001308120.2(TOGARAM1):c.3578A>G (p.His1193Arg)	TOGARAM1 (H1193R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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