VAC14-AS1[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 148810	GRCh38/hg38 16q22.1-22.2(chr16:69918076-71541872)x3	AARS1, CALB2 +84 more	Copy number gain	See cases	GUncertain significance
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 1282718	NM_018052.5(VAC14):c.1371+27A>T	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2955421	NM_018052.5(VAC14):c.1371+18C>A	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900654	NM_018052.5(VAC14):c.1371+14G>A	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640021	NM_018052.5(VAC14):c.1371+13C>T	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674048	NM_018052.5(VAC14):c.1371+12A>T	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917997	NM_018052.5(VAC14):c.1365G>A (p.Ser455=)	VAC14, VAC14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 808071	NM_018052.5(VAC14):c.1357G>T (p.Asp453Tyr)	VAC14, VAC14-AS1 (D219Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190296	NM_018052.5(VAC14):c.1356G>A (p.Ser452=)	VAC14-AS1, VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3188112	NM_018052.5(VAC14):c.1355C>T (p.Ser452Leu)	VAC14, VAC14-AS1 (S218L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2420949	NM_018052.5(VAC14):c.1346A>T (p.Gln449Leu)	VAC14, VAC14-AS1 (Q215L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438506	NM_018052.5(VAC14):c.1339C>G (p.Leu447Val)	VAC14, VAC14-AS1 (L213V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1398913	NM_018052.5(VAC14):c.1324A>G (p.Ser442Gly)	VAC14, VAC14-AS1 (S442G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104219	NM_018052.5(VAC14):c.1320G>T (p.Thr440=)	VAC14, VAC14-AS1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 784658	NM_018052.5(VAC14):c.1320G>A (p.Thr440=)	VAC14-AS1, VAC14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 758145	NM_018052.5(VAC14):c.1320G>C (p.Thr440=)	VAC14, VAC14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2148871	NM_018052.5(VAC14):c.1313G>A (p.Arg438Gln)	VAC14, VAC14-AS1 (R204Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1495997	NM_018052.5(VAC14):c.1312C>T (p.Arg438Trp)	VAC14, VAC14-AS1 (R204W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1525370	NM_018052.5(VAC14):c.1308G>A (p.Met436Ile)	VAC14, VAC14-AS1 (M202I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2129504	NM_018052.5(VAC14):c.1306-7_1306-6delinsTT	VAC14, VAC14-AS1	Indel (intron variant)	not provided	GUncertain significance
Select item 1269382	NM_018052.5(VAC14):c.1306-7C>T	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2710176	NM_018052.5(VAC14):c.1306-14T>G	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183222	NM_018052.5(VAC14):c.1306-27G>A	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2096548	NM_018052.5(VAC14):c.1305+16C>T	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2119459	NM_018052.5(VAC14):c.1305+15C>T	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663962	NM_018052.5(VAC14):c.1305+13C>G	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981989	NM_018052.5(VAC14):c.1300C>A (p.Arg434=)	VAC14, VAC14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1379968	NM_018052.5(VAC14):c.1300C>T (p.Arg434Trp)	VAC14, VAC14-AS1 (R200W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118350	NM_018052.5(VAC14):c.1298C>G (p.Pro433Arg)	VAC14, VAC14-AS1 (P433R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1650857	NM_018052.5(VAC14):c.1275C>T (p.Leu425=)	VAC14, VAC14-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 253140	NM_018052.5(VAC14):c.1271G>T (p.Trp424Leu)	VAC14, VAC14-AS1 (W424L +1 more)	Single nucleotide variant (missense variant)	Striatonigral degeneration, childhood-onset	GPathogenic
Select item 1420777	NM_018052.5(VAC14):c.1261G>T (p.Val421Phe)	VAC14, VAC14-AS1 (V187F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1568937	NM_018052.5(VAC14):c.1224C>T (p.Leu408=)	VAC14, VAC14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094616	NM_018052.5(VAC14):c.1218C>G (p.Cys406Trp)	VAC14, VAC14-AS1 (C172W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112916	NM_018052.5(VAC14):c.1208T>C (p.Val403Ala)	VAC14, VAC14-AS1 (V403A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167249	NM_018052.5(VAC14):c.1201G>A (p.Val401Met)	VAC14, VAC14-AS1 (V401M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1925244	NM_018052.5(VAC14):c.1200C>T (p.Ile400=)	VAC14, VAC14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614075	NM_018052.5(VAC14):c.1194C>T (p.Asp398=)	VAC14-AS1, VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1952268	NM_018052.5(VAC14):c.1188C>A (p.His396Gln)	VAC14, VAC14-AS1 (H396Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040416	NM_018052.5(VAC14):c.1161-6_1161-3del	VAC14, VAC14-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2810791	NM_018052.5(VAC14):c.1161-5C>A	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797135	NM_018052.5(VAC14):c.1161-14G>C	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934411	NM_018052.5(VAC14):c.1161-22TCCC[3]	VAC14, VAC14-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1914825	NM_018052.5(VAC14):c.1161-15C>T	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914057	NM_018052.5(VAC14):c.1161-15C>G	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224980	NM_018052.5(VAC14):c.1161-30C>T	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2414690	NM_018052.5(VAC14):c.1144G>C (p.Val382Leu)	VAC14, VAC14-AS1 (V148L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1382111	NM_018052.5(VAC14):c.1142G>A (p.Ser381Asn)	VAC14, VAC14-AS1 (S147N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2181544	NM_018052.5(VAC14):c.1135G>A (p.Gly379Ser)	VAC14, VAC14-AS1 (G379S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2977637	NM_018052.5(VAC14):c.1115G>A (p.Cys372Tyr)	VAC14, VAC14-AS1 (C372Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1930304	NM_018052.5(VAC14):c.1106A>T (p.Asp369Val)	VAC14, VAC14-AS1 (D369V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2889044	NM_018052.5(VAC14):c.1097-4C>A	VAC14, VAC14-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 798602	NM_018052.5(VAC14):c.1097-9C>T	VAC14, VAC14-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1905234	NM_018052.5(VAC14):c.1097-18T>G	VAC14, VAC14-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

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Items: 68