"Ambry Genetics"[submitter] AND "VPS50"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3188995	NM_017667.4(VPS50):c.88C>T (p.Arg30Trp)	VPS50 (R30W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2297802	NM_017667.4(VPS50):c.89G>A (p.Arg30Gln)	VPS50 (R30Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2557311	NM_017667.4(VPS50):c.112A>G (p.Arg38Gly)	VPS50 (R38G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520988	NM_017667.4(VPS50):c.322A>G (p.Ile108Val)	VPS50 (I108V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332286	NM_017667.4(VPS50):c.429G>C (p.Leu143Phe)	VPS50 (L113F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406978	NM_017667.4(VPS50):c.458C>A (p.Ala153Asp)	VPS50 (A153D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244499	NM_017667.4(VPS50):c.490C>T (p.Arg164Cys)	VPS50 (R134C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269193	NM_017667.4(VPS50):c.584A>G (p.Asp195Gly)	VPS50 (D165G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494140	NM_017667.4(VPS50):c.649A>C (p.Ser217Arg)	VPS50 (S187R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188994	NM_017667.4(VPS50):c.779A>G (p.Tyr260Cys)	VPS50 (Y260C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328346	NM_017667.4(VPS50):c.887G>A (p.Cys296Tyr)	VPS50 (C296Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491834	NM_017667.4(VPS50):c.947T>G (p.Val316Gly)	VPS50 (V286G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361907	NM_017667.4(VPS50):c.1067C>T (p.Ser356Leu)	VPS50 (S356L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476775	NM_017667.4(VPS50):c.1102G>A (p.Glu368Lys)	VPS50 (E338K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357569	NM_017667.4(VPS50):c.1216A>G (p.Ile406Val)	VPS50 (I406V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286904	NM_017667.4(VPS50):c.1295G>C (p.Ser432Thr)	VPS50 (S402T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332285	NM_017667.4(VPS50):c.1478G>A (p.Arg493His)	VPS50 (R463H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188987	NM_017667.4(VPS50):c.1541T>C (p.Phe514Ser)	VPS50 (F514S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188988	NM_017667.4(VPS50):c.1622C>T (p.Ser541Phe)	VPS50 (S541F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316795	NM_017667.4(VPS50):c.1670A>G (p.Tyr557Cys)	VPS50 (Y527C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269585	NM_017667.4(VPS50):c.1691C>T (p.Pro564Leu)	VPS50 (P534L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278223	NM_017667.4(VPS50):c.1754C>A (p.Ser585Tyr)	VPS50 (S555Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188989	NM_017667.4(VPS50):c.1843A>G (p.Ile615Val)	VPS50 (I585V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618224	NM_017667.4(VPS50):c.1916T>A (p.Met639Lys)	VPS50 (M639K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461262	NM_017667.4(VPS50):c.1967G>A (p.Arg656Gln)	VPS50 (R626Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345448	NM_017667.4(VPS50):c.2030A>G (p.Asn677Ser)	VPS50 (N677S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188990	NM_017667.4(VPS50):c.2165C>T (p.Thr722Met)	VPS50 (T692M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188991	NM_017667.4(VPS50):c.2547A>C (p.Glu849Asp)	VPS50 (E849D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260643	NM_017667.4(VPS50):c.2680A>G (p.Ile894Val)	VPS50 (I894V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188992	NM_017667.4(VPS50):c.2690T>C (p.Ile897Thr)	VPS50 (I897T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333138	NM_017667.4(VPS50):c.2693C>T (p.Pro898Leu)	VPS50 (P868L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31