ClinVar for Gene (Select 23025) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366080	NM_001080421.3(UNC13A):c.3725C>T (p.Ser1242Phe)	UNC13A (S1240F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365017	NM_001080421.3(UNC13A):c.2453A>G (p.Gln818Arg)	UNC13A (Q816R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364720	NM_001080421.3(UNC13A):c.53-3_53-2del	UNC13A	Microsatellite (splice acceptor variant)	not provided	GUncertain significance
Select item 3361478	NM_001080421.3(UNC13A):c.1801G>C (p.Ala601Pro)	UNC13A (A599P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358441	NM_001080421.3(UNC13A):c.2385G>A (p.Ser795=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3358253	NM_001080421.3(UNC13A):c.4903C>T (p.Leu1635=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3358217	NM_001080421.3(UNC13A):c.1425A>G (p.Leu475=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3357344	NM_001080421.3(UNC13A):c.3639C>A (p.Ile1213=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3357197	NM_001080421.3(UNC13A):c.1970C>T (p.Thr657Met)	UNC13A (T655M +1 more)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 3356113	NM_001080421.3(UNC13A):c.1243G>A (p.Glu415Lys)	UNC13A (E415K)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 3354870	NM_001080421.3(UNC13A):c.4379C>T (p.Ala1460Val)	UNC13A (A1433V +3 more)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 3354858	NM_001080421.3(UNC13A):c.1506C>T (p.Leu502=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3354814	NM_001080421.3(UNC13A):c.768-9T>C	UNC13A	Single nucleotide variant (intron variant)	UNC13A-related disorder	GLikely benign
Select item 3353855	NM_001080421.3(UNC13A):c.4411-4C>T	UNC13A	Single nucleotide variant (intron variant)	UNC13A-related disorder	GLikely benign
Select item 3353353	NM_001080421.3(UNC13A):c.1559C>T (p.Ser520Leu)	UNC13A (S518L +1 more)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 3352892	NM_001080421.3(UNC13A):c.1071C>A (p.Ser357Arg)	UNC13A (S357R)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 3352091	NM_001080421.3(UNC13A):c.1073A>G (p.Tyr358Cys)	UNC13A (Y358C)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 3351816	NM_001080421.3(UNC13A):c.4506G>A (p.Thr1502=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3351723	NM_001080421.3(UNC13A):c.831C>T (p.Ser277=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3351404	NM_001080421.3(UNC13A):c.3498T>G (p.Gly1166=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3351352	NM_001080421.3(UNC13A):c.3100C>G (p.Leu1034Val)	UNC13A (L1032V +1 more)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GLikely benign
Select item 3351281	NM_001080421.3(UNC13A):c.69C>T (p.Tyr23=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3351187	NM_001080421.3(UNC13A):c.4872C>T (p.Tyr1624=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3350538	NM_001080421.3(UNC13A):c.4384G>A (p.Val1462Ile)	UNC13A (V1435I +3 more)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 3349980	NM_001080421.3(UNC13A):c.2742C>A (p.Ser914=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3349971	NM_001080421.3(UNC13A):c.2668T>A (p.Cys890Ser)	UNC13A (C888S +1 more)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 3349170	NM_001080421.3(UNC13A):c.1224C>G (p.Pro408=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3349164	NM_001080421.3(UNC13A):c.3382G>A (p.Val1128Met)	UNC13A (V1126M +1 more)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 3347225	NM_001080421.3(UNC13A):c.1602C>G (p.Asn534Lys)	UNC13A (N532K +1 more)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 3345764	NM_001080421.3(UNC13A):c.3481C>T (p.Arg1161Trp)	UNC13A (R1159W +1 more)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 3345690	NM_001080421.3(UNC13A):c.2969C>G (p.Pro990Arg)	UNC13A (P988R +1 more)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 3345152	NM_001080421.3(UNC13A):c.4268C>G (p.Ser1423Ter)	UNC13A (S1418* +2 more)	Single nucleotide variant (nonsense +1 more)	UNC13A-related disorder	GUncertain significance
Select item 3344877	NM_001080421.3(UNC13A):c.4457A>C (p.Glu1486Ala)	UNC13A (E1459A +3 more)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 3338624	NM_001080421.3(UNC13A):c.1930C>A (p.Leu644Ile)	UNC13A (L642I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3330988	NM_001080421.3(UNC13A):c.3292G>A (p.Ala1098Thr)	UNC13A (A1096T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330987	NM_001080421.3(UNC13A):c.1523T>C (p.Met508Thr)	UNC13A (M508T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330986	NM_001080421.3(UNC13A):c.4757C>T (p.Ala1586Val)	UNC13A (A1581V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330985	NM_001080421.3(UNC13A):c.4822G>A (p.Ala1608Thr)	UNC13A (A1581T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330984	NM_001080421.3(UNC13A):c.2848A>G (p.Met950Val)	UNC13A (M948V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330983	NM_001080421.3(UNC13A):c.1537T>G (p.Ser513Ala)	UNC13A (S511A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330982	NM_001080421.3(UNC13A):c.858C>A (p.Ser286Arg)	UNC13A (S286R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330981	NM_001080421.3(UNC13A):c.1123A>G (p.Ile375Val)	UNC13A (I375V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3330980	NM_001080421.3(UNC13A):c.4816C>G (p.Leu1606Val)	UNC13A (L1601V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330979	NM_001080421.3(UNC13A):c.115C>T (p.Arg39Trp)	UNC13A (R39W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330978	NM_001080421.3(UNC13A):c.2497G>A (p.Val833Met)	UNC13A (V831M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330976	NM_001080421.3(UNC13A):c.4018G>A (p.Val1340Met)	UNC13A (V1340M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330975	NM_001080421.3(UNC13A):c.1753A>G (p.Thr585Ala)	UNC13A (T585A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3253284	NM_001080421.3(UNC13A):c.3494A>G (p.His1165Arg)	UNC13A (H1163R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242663	NC_000019.9:g.(?_17666523)_(17887515_?)del	COLGALT1, FCHO1 +2 more	Deletion	not provided	GPathogenic
Select item 3186472	NM_001080421.3(UNC13A):c.946C>T (p.Arg316Cys)	UNC13A (R316C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186470	NM_001080421.3(UNC13A):c.4922G>A (p.Arg1641His)	UNC13A (R1614H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186469	NM_001080421.3(UNC13A):c.4825G>A (p.Asp1609Asn)	UNC13A (D1582N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186467	NM_001080421.3(UNC13A):c.4805T>C (p.Phe1602Ser)	UNC13A (F1575S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186466	NM_001080421.3(UNC13A):c.4679A>C (p.Gln1560Pro)	UNC13A (Q1533P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186465	NM_001080421.3(UNC13A):c.446A>G (p.Asn149Ser)	UNC13A (N149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186464	NM_001080421.3(UNC13A):c.3971G>T (p.Ser1324Ile)	UNC13A (S1322I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3186462	NM_001080421.3(UNC13A):c.3559T>C (p.Cys1187Arg)	UNC13A (C1187R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186461	NM_001080421.3(UNC13A):c.354C>G (p.Phe118Leu)	UNC13A (F118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186460	NM_001080421.3(UNC13A):c.2956C>T (p.Leu986Phe)	UNC13A (L984F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186459	NM_001080421.3(UNC13A):c.256C>T (p.Arg86Cys)	UNC13A (R86C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186458	NM_001080421.3(UNC13A):c.2494G>A (p.Asp832Asn)	UNC13A (D830N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186457	NM_001080421.3(UNC13A):c.2350A>C (p.Asn784His)	UNC13A (N782H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186456	NM_001080421.3(UNC13A):c.2257G>A (p.Val753Met)	UNC13A (V753M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186455	NM_001080421.3(UNC13A):c.2026G>A (p.Ala676Thr)	UNC13A (A676T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186454	NM_001080421.3(UNC13A):c.1498A>C (p.Ile500Leu)	UNC13A (I500L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186453	NM_001080421.3(UNC13A):c.1331T>C (p.Met444Thr)	UNC13A (M444T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186452	NM_001080421.3(UNC13A):c.1204G>T (p.Ala402Ser)	UNC13A (A402S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186451	NM_001080421.3(UNC13A):c.1166C>T (p.Pro389Leu)	UNC13A (P389L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 3060397	NM_001080421.3(UNC13A):c.3460G>A (p.Asp1154Asn)	UNC13A (D1152N +1 more)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 3060362	NM_001080421.3(UNC13A):c.4065G>C (p.Leu1355=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3059576	NM_001080421.3(UNC13A):c.3783G>A (p.Gln1261=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3059456	NM_001080421.3(UNC13A):c.3707T>C (p.Ile1236Thr)	UNC13A (I1234T +1 more)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 3058554	NM_001080421.3(UNC13A):c.111G>A (p.Ala37=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3057214	NM_001080421.3(UNC13A):c.3108G>A (p.Glu1036=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GBenign
Select item 3056924	NM_001080421.3(UNC13A):c.3573T>C (p.Asp1191=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GBenign
Select item 3056881	NM_001080421.3(UNC13A):c.1620C>A (p.Thr540=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3056000	NM_001080421.3(UNC13A):c.3215+7T>C	UNC13A	Single nucleotide variant (intron variant)	UNC13A-related disorder	GLikely benign
Select item 3055255	NM_001080421.3(UNC13A):c.3234T>C (p.Asn1078=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3055207	NM_001080421.3(UNC13A):c.4932C>A (p.Ala1644=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3055162	NM_001080421.3(UNC13A):c.871G>A (p.Asp291Asn)	UNC13A (D291N)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GLikely benign
Select item 3054896	NM_001080421.3(UNC13A):c.4674G>A (p.Lys1558=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3054303	NM_001080421.3(UNC13A):c.3396C>T (p.Pro1132=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3053218	NM_001080421.3(UNC13A):c.3375T>C (p.Asn1125=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3053013	NM_001080421.3(UNC13A):c.-1C>T	UNC13A	Single nucleotide variant (5 prime UTR variant)	UNC13A-related disorder	GLikely benign
Select item 3052129	NM_001080421.3(UNC13A):c.2112G>A (p.Gln704=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3052085	NM_001080421.3(UNC13A):c.3135C>T (p.Leu1045=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3051270	NM_001080421.3(UNC13A):c.1449C>T (p.Gly483=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3051197	NM_001080421.3(UNC13A):c.3105A>C (p.Pro1035=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3050776	NM_001080421.3(UNC13A):c.5034C>T (p.Asp1678=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3049199	NM_001080421.3(UNC13A):c.1149G>A (p.Gly383=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3047825	NM_001080421.3(UNC13A):c.3921-10G>T	UNC13A	Single nucleotide variant (intron variant)	UNC13A-related disorder	GLikely benign
Select item 3047520	NM_001080421.3(UNC13A):c.3832-5C>T	UNC13A	Single nucleotide variant (intron variant)	UNC13A-related disorder	GLikely benign
Select item 3047320	NM_001080421.3(UNC13A):c.5064G>A (p.Lys1688=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3047185	NM_001080421.3(UNC13A):c.3627C>T (p.Pro1209=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3047166	NM_001080421.3(UNC13A):c.490G>A (p.Asp164Asn)	UNC13A (D164N)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GLikely benign
Select item 3047123	NM_001080421.3(UNC13A):c.2045-4C>T	UNC13A	Single nucleotide variant (intron variant)	UNC13A-related disorder	GLikely benign
Select item 3047078	NM_001080421.3(UNC13A):c.2541C>T (p.Asp847=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3047037	NM_001080421.3(UNC13A):c.3090G>A (p.Lys1030=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3046804	NM_001080421.3(UNC13A):c.3024C>T (p.Tyr1008=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign

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