UNC13A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155504	GRCh38/hg38 19p13.11(chr19:17246895-17730147)x1	ABHD8, ANKLE1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 153111	GRCh38/hg38 19p13.11(chr19:17308207-17705382)x1	ANO8, BISPR +46 more	Copy number loss	See cases	GUncertain significance
Select item 2690430	NM_001080421.3(UNC13A):c.5110_*31del (p.Ter1704AlaextTer?)	UNC13A	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2266035	NM_001080421.3(UNC13A):c.5092G>A (p.Gly1698Ser)	UNC13A (G1671S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2397146	NM_001080421.3(UNC13A):c.5030A>G (p.Asn1677Ser)	UNC13A (N1650S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 726726	NM_001080421.3(UNC13A):c.4965C>T (p.Leu1655=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2541297	NM_001080421.3(UNC13A):c.4945G>C (p.Ala1649Pro)	UNC13A (A1644P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3358253	NM_001080421.3(UNC13A):c.4903C>T (p.Leu1635=)	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 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 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 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 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 545226	NC_000019.10:g.(?_17607118)_(17624457_?)del	UNC13A	Deletion	Autism	GLikely pathogenic
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 3032561	NM_001080421.3(UNC13A):c.4803C>T (p.Ser1601=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
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 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 3054896	NM_001080421.3(UNC13A):c.4674G>A (p.Lys1558=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 2405703	NM_001080421.3(UNC13A):c.4664A>G (p.Asn1555Ser)	UNC13A (N1528S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791654	NM_001080421.3(UNC13A):c.4611C>T (p.Phe1537=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738249	NM_001080421.3(UNC13A):c.4560C>T (p.Gly1520=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 755656	NM_001080421.3(UNC13A):c.4548A>G (p.Gln1516=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 773083	NM_001080421.3(UNC13A):c.4515C>T (p.Thr1505=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 3353855	NM_001080421.3(UNC13A):c.4411-4C>T	UNC13A	Single nucleotide variant (intron 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 3040019	NM_001080421.3(UNC13A):c.4380G>A (p.Ala1460=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
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 728245	NM_001080421.3(UNC13A):c.4305G>A (p.Glu1435=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1247126	NM_001080421.3(UNC13A):c.4273-16A>C	UNC13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3036431	NM_001080421.3(UNC13A):c.4272+8C>T	UNC13A	Single nucleotide variant (intron variant)	UNC13A-related disorder	GLikely benign
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 3043189	NM_001080421.3(UNC13A):c.4243-8C>T	UNC13A	Single nucleotide variant (intron variant)	not provided	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)	Amyotrophic lateral sclerosis +1 more	GUncertain significance
Select item 2527232	NM_001080421.3(UNC13A):c.4163A>G (p.Lys1388Arg)	UNC13A (K1386R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1810180	NM_001080421.3(UNC13A):c.4048C>T (p.Pro1350Ser)	UNC13A (P1347S +2 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 2385281	NM_001080421.3(UNC13A):c.3950A>G (p.Lys1317Arg)	UNC13A (K1317R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735713	NM_001080421.3(UNC13A):c.3930G>A (p.Pro1310=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided	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 2649547	NM_001080421.3(UNC13A):c.3897G>A (p.Glu1299=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided	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)	not provided +2 more	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 710759	NM_001080421.3(UNC13A):c.3786A>G (p.Leu1262=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 742500	NM_001080421.3(UNC13A):c.3726C>T (p.Ser1242=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 3357344	NM_001080421.3(UNC13A):c.3639C>A (p.Ile1213=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
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 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 1294501	NM_001080421.3(UNC13A):c.3576T>C (p.Val1192=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided	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 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 708730	NM_001080421.3(UNC13A):c.3552A>G (p.Leu1184=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided	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 3351404	NM_001080421.3(UNC13A):c.3498T>G (p.Gly1166=)	UNC13A	Single nucleotide variant (synonymous variant)	UNC13A-related disorder	GLikely benign
Select item 977360	NM_001080421.3(UNC13A):c.3497G>C (p.Gly1166Ala)	UNC13A (G1166A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	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 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 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 2334698	NM_001080421.3(UNC13A):c.3412G>A (p.Val1138Met)	UNC13A (V1136M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732596	NM_001080421.3(UNC13A):c.3411C>T (p.Arg1137=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 2649548	NM_001080421.3(UNC13A):c.3381T>C (p.Tyr1127=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided	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)	not provided	GLikely benign
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 713404	NM_001080421.3(UNC13A):c.3291C>T (p.Tyr1097=)	UNC13A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1331532	NM_001080421.3(UNC13A):c.3249C>G (p.Ser1083Arg)	UNC13A (S1081R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	not provided	GLikely benign
Select item 2238179	NM_001080421.3(UNC13A):c.3145T>G (p.Ser1049Ala)	UNC13A (S1049A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3351352	NM_001080421.3(UNC13A):c.3100C>G (p.Leu1034Val)	UNC13A (L1032V +1 more)	Single nucleotide variant (missense variant)	UNC13A-related disorder	GLikely benign

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