UNC93A[gene] and "single gene"[properties] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2388421	NM_018974.4(UNC93A):c.26T>C (p.Leu9Pro)	UNC93A (L9P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380114	NM_018974.4(UNC93A):c.115G>A (p.Gly39Ser)	UNC93A (G39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186698	NM_018974.4(UNC93A):c.125C>T (p.Ala42Val)	UNC93A (A42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339216	NM_018974.4(UNC93A):c.178C>G (p.Leu60Val)	UNC93A (L60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186699	NM_018974.4(UNC93A):c.313G>A (p.Ala105Thr)	UNC93A (A105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302154	NM_018974.4(UNC93A):c.317C>T (p.Pro106Leu)	UNC93A (P106L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186700	NM_018974.4(UNC93A):c.385C>T (p.Arg129Cys)	UNC93A (R129C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209345	NM_018974.4(UNC93A):c.386G>A (p.Arg129His)	UNC93A (R129H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 774312	NM_018974.4(UNC93A):c.455G>A (p.Gly152Asp)	UNC93A (G152D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3331099	NM_018974.4(UNC93A):c.495C>A (p.Ser165Arg)	UNC93A (S165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238679	NM_018974.4(UNC93A):c.496C>A (p.Gln166Lys)	UNC93A (Q166K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186702	NM_018974.4(UNC93A):c.544T>G (p.Cys182Gly)	UNC93A (C182G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549326	NM_018974.4(UNC93A):c.562A>G (p.Thr188Ala)	UNC93A (T188A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377419	NM_018974.4(UNC93A):c.598G>A (p.Val200Ile)	UNC93A (V200I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 768119	NM_018974.4(UNC93A):c.659C>T (p.Ala220Val)	UNC93A (A220V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3331100	NM_018974.4(UNC93A):c.663C>A (p.Phe221Leu)	UNC93A (F179L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773330	NM_018974.4(UNC93A):c.676C>T (p.Arg226Ter)	UNC93A (R184* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2557598	NM_018974.4(UNC93A):c.677G>A (p.Arg226Gln)	UNC93A (R226Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357045	NM_018974.4(UNC93A):c.688C>T (p.Arg230Trp)	UNC93A (R188W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314186	NM_018974.4(UNC93A):c.851C>G (p.Thr284Ser)	UNC93A (T284S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331098	NM_018974.4(UNC93A):c.877G>A (p.Gly293Ser)	UNC93A (G293S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299573	NM_018974.4(UNC93A):c.883G>T (p.Val295Leu)	UNC93A (V253L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781019	NM_018974.4(UNC93A):c.922G>A (p.Val308Met)	UNC93A (V308M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3186703	NM_018974.4(UNC93A):c.938T>C (p.Val313Ala)	UNC93A (V271A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380944	NM_018974.4(UNC93A):c.941C>T (p.Ser314Leu)	UNC93A (S272L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657129	NM_018974.4(UNC93A):c.951G>A (p.Thr317=)	UNC93A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2337924	NM_018974.4(UNC93A):c.1117G>C (p.Gly373Arg)	UNC93A (G373R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186697	NM_018974.4(UNC93A):c.1120G>A (p.Val374Ile)	UNC93A (V332I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266118	NM_018974.4(UNC93A):c.1157A>G (p.Asn386Ser)	UNC93A (N344S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384808	NM_018974.4(UNC93A):c.1163G>A (p.Arg388His)	UNC93A (R388H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371120	NM_018974.4(UNC93A):c.1175C>T (p.Ala392Val)	UNC93A (A350V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768120	NM_018974.4(UNC93A):c.1208T>C (p.Met403Thr)	UNC93A (M361T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769323	NM_018974.4(UNC93A):c.1209G>A (p.Met403Ile)	UNC93A (M403I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2657130	NM_018974.4(UNC93A):c.1218C>T (p.Cys406=)	UNC93A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2286411	NM_018974.4(UNC93A):c.1277G>A (p.Gly426Glu)	UNC93A (G426E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467626	NM_018974.4(UNC93A):c.1291G>A (p.Val431Met)	UNC93A (V389M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250012	NM_018974.4(UNC93A):c.1300A>G (p.Lys434Glu)	UNC93A (K392E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 37