RRP8[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2283380	NM_015324.4(RRP8):c.1321G>C (p.Ala441Pro)	RRP8 (A441P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269570	NM_015324.4(RRP8):c.1303C>G (p.Pro435Ala)	RRP8 (P435A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737472	NM_015324.4(RRP8):c.1252-5C>T	RRP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3156543	NM_015324.4(RRP8):c.1247C>T (p.Ser416Phe)	RRP8 (S416F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316365	NM_015324.4(RRP8):c.1241T>C (p.Ile414Thr)	RRP8 (I414T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156542	NM_015324.4(RRP8):c.1239G>T (p.Lys413Asn)	RRP8 (K413N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308898	NM_015324.4(RRP8):c.1232G>A (p.Gly411Asp)	RRP8 (G411D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156541	NM_015324.4(RRP8):c.1214G>A (p.Arg405Gln)	RRP8 (R405Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276279	NM_015324.4(RRP8):c.1166A>C (p.Lys389Thr)	RRP8 (K389T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713408	NM_015324.4(RRP8):c.1048-6C>T	RRP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2600365	NM_015324.4(RRP8):c.1018C>G (p.Pro340Ala)	RRP8 (P340A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371119	NM_015324.4(RRP8):c.980G>A (p.Arg327Gln)	RRP8 (R327Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380856	NM_015324.4(RRP8):c.979C>T (p.Arg327Trp)	RRP8 (R327W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156549	NM_015324.4(RRP8):c.932T>A (p.Val311Glu)	RRP8 (V311E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641556	NM_015324.4(RRP8):c.916C>T (p.Arg306Trp)	RRP8 (R306W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2524019	NM_015324.4(RRP8):c.898G>A (p.Ala300Thr)	RRP8 (A300T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373207	NM_015324.4(RRP8):c.892C>T (p.Arg298Cys)	RRP8 (R298C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276642	NM_015324.4(RRP8):c.884C>T (p.Pro295Leu)	RRP8 (P295L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368405	NM_015324.4(RRP8):c.845G>A (p.Arg282His)	RRP8 (R282H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398893	NM_015324.4(RRP8):c.844C>T (p.Arg282Cys)	RRP8 (R282C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996715	NM_015324.4(RRP8):c.803G>A (p.Arg268His)	RRP8 (R268H)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 2306627	NM_015324.4(RRP8):c.764A>G (p.Asn255Ser)	RRP8 (N255S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156547	NM_015324.4(RRP8):c.749G>A (p.Arg250Gln)	RRP8 (R250Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388226	NM_015324.4(RRP8):c.734G>A (p.Arg245Gln)	RRP8 (R245Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780946	NM_015324.4(RRP8):c.723C>T (p.Arg241=)	RRP8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2362863	NM_015324.4(RRP8):c.715C>G (p.Arg239Gly)	RRP8 (R239G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290661	NM_015324.4(RRP8):c.691C>G (p.His231Asp)	RRP8 (H231D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302896	NM_015324.4(RRP8):c.685G>T (p.Asp229Tyr)	RRP8 (D229Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156546	NM_015324.4(RRP8):c.609G>C (p.Gln203His)	RRP8 (Q203H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315485	NM_015324.4(RRP8):c.587G>A (p.Arg196Lys)	RRP8 (R196K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556850	NM_015324.4(RRP8):c.572G>A (p.Arg191Gln)	RRP8 (R191Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463331	NM_015324.4(RRP8):c.571C>T (p.Arg191Trp)	RRP8 (R191W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390262	NM_015324.4(RRP8):c.554G>A (p.Arg185His)	RRP8 (R185H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408189	NM_015324.4(RRP8):c.553C>T (p.Arg185Cys)	RRP8 (R185C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495478	NM_015324.4(RRP8):c.457C>G (p.Gln153Glu)	RRP8 (Q153E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780947	NM_015324.4(RRP8):c.433G>C (p.Ala145Pro)	RRP8 (A145P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2397619	NM_015324.4(RRP8):c.296A>G (p.Gln99Arg)	RRP8 (Q99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283381	NM_015324.4(RRP8):c.235G>C (p.Ala79Pro)	RRP8 (A79P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156544	NM_015324.4(RRP8):c.173G>C (p.Ser58Thr)	RRP8 (S58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618930	NM_015324.4(RRP8):c.172A>G (p.Ser58Gly)	RRP8 (S58G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529603	NM_015324.4(RRP8):c.169C>T (p.Pro57Ser)	RRP8 (P57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549094	NM_015324.4(RRP8):c.134G>A (p.Arg45Gln)	RRP8 (R45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398519	NM_015324.4(RRP8):c.127A>G (p.Thr43Ala)	RRP8 (T43A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204525	NM_015324.4(RRP8):c.113G>A (p.Arg38His)	RRP8 (R38H)	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: 44