"PreventionGenetics, part of Exact Sciences"[submitter] AND "UNC13A"[g - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2629260	NM_001080421.3(UNC13A):c.5062A>G (p.Lys1688Glu)	UNC13A (K1661E +3 more)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
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 3035970	NM_001080421.3(UNC13A):c.4992G>A (p.Thr1664=)	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 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 3032561	NM_001080421.3(UNC13A):c.4803C>T (p.Ser1601=)	UNC13A	Single nucleotide variant (synonymous 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 738249	NM_001080421.3(UNC13A):c.4560C>T (p.Gly1520=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 755656	NM_001080421.3(UNC13A):c.4548A>G (p.Gln1516=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder +1 more	GLikely benign
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 728245	NM_001080421.3(UNC13A):c.4305G>A (p.Glu1435=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 3036431	NM_001080421.3(UNC13A):c.4272+8C>T	UNC13A	Single nucleotide variant (intron variant)	UNC13A-related disorder	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 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 981032	NM_001080421.3(UNC13A):c.4197+7C>T	UNC13A	Single nucleotide variant (intron variant)	UNC13A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3045512	NM_001080421.3(UNC13A):c.4073+8G>A	UNC13A	Single nucleotide variant (intron variant)	UNC13A-related disorder	GLikely benign
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 2628485	NM_001080421.3(UNC13A):c.3982G>A (p.Gly1328Ser)	UNC13A (G1325S +2 more)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 3047825	NM_001080421.3(UNC13A):c.3921-10G>T	UNC13A	Single nucleotide variant (intron variant)	UNC13A-related disorder	GLikely benign
Select item 2629284	NM_001080421.3(UNC13A):c.3886G>A (p.Val1296Ile)	UNC13A (V1293I +2 more)	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 3042724	NM_001080421.3(UNC13A):c.3832-5_3832-3del	UNC13A	Deletion (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 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 3047185	NM_001080421.3(UNC13A):c.3627C>T (p.Pro1209=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 2629313	NM_001080421.3(UNC13A):c.3619G>A (p.Glu1207Lys)	UNC13A (E1205K +1 more)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 3056924	NM_001080421.3(UNC13A):c.3573T>C (p.Asp1191=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GBenign
Select item 3042552	NM_001080421.3(UNC13A):c.3526-8C>G	UNC13A	Single nucleotide variant (intron variant)	UNC13A-related disorder	GLikely benign
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 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 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 3055255	NM_001080421.3(UNC13A):c.3234T>C (p.Asn1078=)	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 752965	NM_001080421.3(UNC13A):c.3180G>A (p.Glu1060=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder +1 more	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 3057214	NM_001080421.3(UNC13A):c.3108G>A (p.Glu1036=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GBenign
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 3047037	NM_001080421.3(UNC13A):c.3090G>A (p.Lys1030=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 2649550	NM_001080421.3(UNC13A):c.3080C>T (p.Pro1027Leu)	UNC13A (P1025L +1 more)	Single nucleotide variant (missense variant)	UNC13A-related disorder +1 more	GBenign/Likely 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 3031686	NM_001080421.3(UNC13A):c.2760C>T (p.Ser920=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 716699	NM_001080421.3(UNC13A):c.2703C>T (p.Leu901=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 3047078	NM_001080421.3(UNC13A):c.2541C>T (p.Asp847=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 2401162	NM_001080421.3(UNC13A):c.2507A>G (p.Asn836Ser)	UNC13A (N834S +1 more)	Single nucleotide variant (missense variant)	UNC13A-related disorder +1 more	GConflicting classifications of pathogenicity
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 3031584	NM_001080421.3(UNC13A):c.2241C>T (p.Asp747=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 717189	NM_001080421.3(UNC13A):c.2220G>A (p.Val740=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided +1 more	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 3052129	NM_001080421.3(UNC13A):c.2112G>A (p.Gln704=)	UNC13A	Single nucleotide variant (synonymous 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 3029197	NM_001080421.3(UNC13A):c.2044+10C>T	UNC13A	Single nucleotide variant (intron 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 3034859	NM_001080421.3(UNC13A):c.1755C>T (p.Thr585=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 794617	NM_001080421.3(UNC13A):c.1653G>T (p.Thr551=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided +1 more	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 3056881	NM_001080421.3(UNC13A):c.1620C>A (p.Thr540=)	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 3051270	NM_001080421.3(UNC13A):c.1449C>T (p.Gly483=)	UNC13A	Single nucleotide variant (synonymous variant)	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 3036412	NM_001080421.3(UNC13A):c.1275C>T (p.Asp425=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 711168	NM_001080421.3(UNC13A):c.1188C>T (p.Pro396=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 2632602	NM_001080421.3(UNC13A):c.1057G>A (p.Asp353Asn)	UNC13A (D353N)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 2382591	NM_001080421.3(UNC13A):c.1031T>C (p.Leu344Pro)	UNC13A (L344P)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 2634041	NM_001080421.3(UNC13A):c.892C>T (p.Arg298Trp)	UNC13A (R298W)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
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 3036148	NM_001080421.3(UNC13A):c.858C>T (p.Ser286=)	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 3032584	NM_001080421.3(UNC13A):c.847G>A (p.Asp283Asn)	UNC13A (D283N)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GLikely benign
Select item 722509	NM_001080421.3(UNC13A):c.774G>A (p.Thr258=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder +1 more	GLikely benign
Select item 725488	NM_001080421.3(UNC13A):c.767+10G>A	UNC13A	Single nucleotide variant (intron variant)	UNC13A-related disorder +1 more	GBenign/Likely benign
Select item 808502	NM_001080421.3(UNC13A):c.739G>A (p.Glu247Lys)	UNC13A (E247K)	Single nucleotide variant (missense variant)	UNC13A-related disorder +1 more	GConflicting classifications of pathogenicity
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 2628611	NM_001080421.3(UNC13A):c.629C>T (p.Pro210Leu)	UNC13A (P210L)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 2400605	NM_001080421.3(UNC13A):c.622A>G (p.Ser208Gly)	UNC13A (S208G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 3047166	NM_001080421.3(UNC13A):c.490G>A (p.Asp164Asn)	UNC13A (D164N)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GLikely benign
Select item 728806	NM_001080421.3(UNC13A):c.457G>T (p.Asp153Tyr)	UNC13A (D153Y)	Single nucleotide variant (missense variant)	UNC13A-related disorder +1 more	GBenign/Likely benign
Select item 372219	NM_001080421.3(UNC13A):c.304C>T (p.Gln102Ter)	UNC13A (Q102*)	Single nucleotide variant (nonsense)	UNC13A-related disorder	GUncertain significance
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 2632691	NM_001080421.3(UNC13A):c.190G>T (p.Val64Leu)	UNC13A (V64L)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 2445231	NM_001080421.3(UNC13A):c.182C>T (p.Thr61Met)	UNC13A (T61M)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GBenign
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 3058554	NM_001080421.3(UNC13A):c.111G>A (p.Ala37=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 2632529	NM_001080421.3(UNC13A):c.53-2A>G	UNC13A	Single nucleotide variant (splice acceptor variant)	UNC13A-related disorder	GUncertain significance
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 2629136	NM_001080421.3(UNC13A):c.37T>C (p.Phe13Leu)	UNC13A (F13L)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GUncertain significance
Select item 3053013	NM_001080421.3(UNC13A):c.-1C>T	UNC13A	Single nucleotide variant (5 prime UTR variant)	UNC13A-related disorder	GLikely benign

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Items: 94