"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "VAC14"[gen - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 725469	NM_018052.5(VAC14):c.2244C>T (p.Tyr748=)	VAC14	Single nucleotide variant (synonymous variant)	VAC14-related condition +1 more	GLikely benign
Select item 2646686	NM_018052.5(VAC14):c.2186+825G>A	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 795950	NM_018052.5(VAC14):c.2124C>T (p.Ser708=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733971	NM_018052.5(VAC14):c.2115G>A (p.Pro705=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 808069	NM_018052.5(VAC14):c.2042G>A (p.Arg681His)	VAC14 (R447H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 774230	NM_018052.5(VAC14):c.1896G>A (p.Thr632=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1673634	NM_018052.5(VAC14):c.1761C>T (p.His587=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 808070	NM_018052.5(VAC14):c.1744G>A (p.Ala582Thr)	VAC14 (A348T +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1032018	NM_018052.5(VAC14):c.1723C>T (p.Arg575Trp)	VAC14 (R575W +1 more)	Single nucleotide variant (missense variant)	Striatonigral degeneration, childhood-onset +2 more	GConflicting classifications of pathogenicity
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, VAC14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1012405	NM_018052.5(VAC14):c.894C>T (p.Ser298=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717100	NM_018052.5(VAC14):c.880C>T (p.Leu294=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 713668	NM_018052.5(VAC14):c.873C>T (p.Arg291=)	VAC14	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 790711	NM_018052.5(VAC14):c.612G>A (p.Ser204=)	VAC14	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 755759	NM_018052.5(VAC14):c.492T>C (p.Ile164=)	VAC14	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1382542	NM_018052.5(VAC14):c.423+6C>T	VAC14	Single nucleotide variant (intron variant)	VAC14-related condition +2 more	GConflicting classifications of pathogenicity
Select item 780061	NM_018052.5(VAC14):c.358A>G (p.Ile120Val)	VAC14 (I120V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2646687	NM_018052.5(VAC14):c.138C>A (p.Thr46=)	VAC14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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Items: 20