"GeneDx"[submitter] AND "VAC14"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 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 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 1247714	NM_018052.5(VAC14):c.2187-110C>G	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182665	NM_018052.5(VAC14):c.2186+143dup	VAC14	Duplication (intron variant)	not provided	GBenign
Select item 1225645	NM_018052.5(VAC14):c.2186+148C>A	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225560	NM_018052.5(VAC14):c.2186+29C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235270	NM_018052.5(VAC14):c.2115G>T (p.Pro705=)	VAC14	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1267841	NM_018052.5(VAC14):c.2036-66C>G	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 638191	NM_018052.5(VAC14):c.2005G>T (p.Val669Leu)	VAC14 (V669L +1 more)	Single nucleotide variant (missense variant)	Striatonigral degeneration, childhood-onset +2 more	GConflicting classifications of pathogenicity
Select item 397535	NM_018052.5(VAC14):c.1895C>T (p.Thr632Met)	VAC14 (T632M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1226711	NM_018052.5(VAC14):c.1837-142C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249169	NM_018052.5(VAC14):c.1837-168T>C	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263159	NM_018052.5(VAC14):c.1837-184A>G	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174401	NM_018052.5(VAC14):c.1836+57C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275540	NM_018052.5(VAC14):c.1836+48G>A	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276596	NM_018052.5(VAC14):c.1662-47C>G	VAC14	Single nucleotide variant (intron variant)	Striatonigral degeneration, childhood-onset +1 more	GBenign
Select item 1287432	NM_018052.5(VAC14):c.1662-194G>C	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282718	NM_018052.5(VAC14):c.1371+27A>T	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1183222	NM_018052.5(VAC14):c.1306-27G>A	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1224980	NM_018052.5(VAC14):c.1161-30C>T	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265921	NM_018052.5(VAC14):c.1002C>T (p.Pro334=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1225902	NM_018052.5(VAC14):c.947-3C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239364	NM_018052.5(VAC14):c.947-185C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224820	NM_018052.5(VAC14):c.946+227C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294993	NM_018052.5(VAC14):c.946+142A>C	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232446	NM_018052.5(VAC14):c.812-223G>A	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260691	NM_018052.5(VAC14):c.811+43G>A	VAC14	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1242541	NM_018052.5(VAC14):c.705-133A>G	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288539	NM_018052.5(VAC14):c.704+52G>A	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227268	NM_018052.5(VAC14):c.595-44G>A	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270094	NM_018052.5(VAC14):c.594+224C>A	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182678	NM_018052.5(VAC14):c.594+34C>A	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1990868	NM_018052.5(VAC14):c.542G>A (p.Arg181Gln)	VAC14 (R181Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1277093	NM_018052.5(VAC14):c.486+50C>A	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 488760	NM_018052.5(VAC14):c.486+3A>G	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1222821	NM_018052.5(VAC14):c.432C>T (p.Ala144=)	VAC14	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1221543	NM_018052.5(VAC14):c.424-18T>C	VAC14	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1227588	NM_018052.5(VAC14):c.255+57C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1446833	NM_018052.5(VAC14):c.169T>A (p.Ser57Thr)	VAC14 (S57T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1250299	NM_018052.5(VAC14):c.48C>T (p.Arg16=)	VAC14	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1271973	NM_018052.5(VAC14):c.-17T>C	VAC14	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1271511	NC_000016.10:g.70801196G>A	VAC14	Single nucleotide variant	not provided	GBenign
Select item 1260942	NC_000016.10:g.70801321A>G	VAC14	Single nucleotide variant	not provided	GBenign

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Items: 45