ClinVar for Gene (Select 23025) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 specified	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
Select item 3046747	NM_001080421.3(UNC13A):c.591T>C (p.Arg197=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3046185	NM_001080421.3(UNC13A):c.2187-8C>T	UNC13A	Single nucleotide variant (intron variant)	UNC13A-related disorder	GLikely benign
Select item 3045512	NM_001080421.3(UNC13A):c.4073+8G>A	UNC13A	Single nucleotide variant (intron variant)	UNC13A-related disorder	GLikely benign
Select item 3045405	NM_001080421.3(UNC13A):c.153C>T (p.Phe51=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder +1 more	GLikely benign
Select item 3043189	NM_001080421.3(UNC13A):c.4243-8C>T	UNC13A	Single nucleotide variant (intron variant)	UNC13A-related disorder	GLikely benign
Select item 3042724	NM_001080421.3(UNC13A):c.3832-5_3832-3del	UNC13A	Deletion (intron variant)	UNC13A-related disorder	GLikely benign
Select item 3042552	NM_001080421.3(UNC13A):c.3526-8C>G	UNC13A	Single nucleotide variant (intron variant)	UNC13A-related disorder	GLikely benign
Select item 3040978	NM_001080421.3(UNC13A):c.40G>T (p.Asp14Tyr)	UNC13A (D14Y)	Single nucleotide variant (missense variant)	UNC13A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3040019	NM_001080421.3(UNC13A):c.4380G>A (p.Ala1460=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3036431	NM_001080421.3(UNC13A):c.4272+8C>T	UNC13A	Single nucleotide variant (intron variant)	UNC13A-related disorder	GLikely benign
Select item 3036412	NM_001080421.3(UNC13A):c.1275C>T (p.Asp425=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3036386	NM_001080421.3(UNC13A):c.2406C>A (p.Ile802=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3036148	NM_001080421.3(UNC13A):c.858C>T (p.Ser286=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3035970	NM_001080421.3(UNC13A):c.4992G>A (p.Thr1664=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3035958	NM_001080421.3(UNC13A):c.1542G>A (p.Arg514=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3034859	NM_001080421.3(UNC13A):c.1755C>T (p.Thr585=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3034470	NM_001080421.3(UNC13A):c.633G>A (p.Pro211=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3033489	NM_001080421.3(UNC13A):c.948C>A (p.Arg316=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3032584	NM_001080421.3(UNC13A):c.847G>A (p.Asp283Asn)	UNC13A (D283N)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GLikely benign
Select item 3032561	NM_001080421.3(UNC13A):c.4803C>T (p.Ser1601=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3032415	NM_001080421.3(UNC13A):c.4293T>C (p.Asn1431=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3032388	NM_001080421.3(UNC13A):c.1998C>T (p.Ser666=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3032021	NM_001080421.3(UNC13A):c.4203C>T (p.Ile1401=)	UNC13A	Single nucleotide variant (synonymous variant +1 more)	UNC13A-related disorder	GLikely benign
Select item 3031820	NM_001080421.3(UNC13A):c.1284-6C>A	UNC13A	Single nucleotide variant (intron variant)	UNC13A-related disorder	GLikely benign
Select item 3031686	NM_001080421.3(UNC13A):c.2760C>T (p.Ser920=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3031584	NM_001080421.3(UNC13A):c.2241C>T (p.Asp747=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3031315	NM_001080421.3(UNC13A):c.2685C>T (p.Ala895=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3029565	NM_001080421.3(UNC13A):c.852G>A (p.Glu284=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3029211	NM_001080421.3(UNC13A):c.1626A>G (p.Gln542=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 3029197	NM_001080421.3(UNC13A):c.2044+10C>T	UNC13A	Single nucleotide variant (intron variant)	UNC13A-related disorder	GLikely benign
Select item 2690430	NM_001080421.3(UNC13A):c.5110_*31del (p.Ter1704AlaextTer?)	UNC13A	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2685630	GRCh37/hg19 19p13.11(chr19:17658932-17883270)x1	COLGALT1, FCHO1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2663637	NM_001080421.3(UNC13A):c.632C>G (p.Pro211Arg)	UNC13A (P211R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662193	NM_001080421.3(UNC13A):c.1034AGG[5] (p.Glu350del)	UNC13A (E350del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2661998	NM_001080421.3(UNC13A):c.3631C>T (p.Pro1211Ser)	UNC13A (P1209S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649553	NM_001080421.3(UNC13A):c.767+1G>A	UNC13A	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2649552	NM_001080421.3(UNC13A):c.771C>G (p.Pro257=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2649551	NM_001080421.3(UNC13A):c.861G>T (p.Leu287=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649550	NM_001080421.3(UNC13A):c.3080C>T (p.Pro1027Leu)	UNC13A (P1025L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2649549	NM_001080421.3(UNC13A):c.3333C>T (p.Ala1111=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder +1 more	GLikely benign
Select item 2649548	NM_001080421.3(UNC13A):c.3381T>C (p.Tyr1127=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649547	NM_001080421.3(UNC13A):c.3897G>A (p.Glu1299=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636073	NM_001080421.3(UNC13A):c.285G>C (p.Glu95Asp)	UNC13A (E95D)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 2634634	NM_001080421.3(UNC13A):c.3881A>G (p.Asn1294Ser)	UNC13A (N1291S +2 more)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 2634161	NM_001080421.3(UNC13A):c.4855G>A (p.Val1619Met)	UNC13A (V1592M +3 more)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 2634041	NM_001080421.3(UNC13A):c.892C>T (p.Arg298Trp)	UNC13A (R298W)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 2632691	NM_001080421.3(UNC13A):c.190G>T (p.Val64Leu)	UNC13A (V64L)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 2632602	NM_001080421.3(UNC13A):c.1057G>A (p.Asp353Asn)	UNC13A (D353N)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 2632529	NM_001080421.3(UNC13A):c.53-2A>G	UNC13A	Single nucleotide variant (splice acceptor variant)	UNC13A-related disorder	GUncertain significance

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