ClinVar for Gene (Select 23378) - ClinVar

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Links from Gene

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3156549	NM_015324.4(RRP8):c.932T>A (p.Val311Glu)	RRP8 (V311E)	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 3156546	NM_015324.4(RRP8):c.609G>C (p.Gln203His)	RRP8 (Q203H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156545	NM_015324.4(RRP8):c.29C>G (p.Ala10Gly)	LOC130005199, RRP8 (A10G)	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 3156543	NM_015324.4(RRP8):c.1247C>T (p.Ser416Phe)	RRP8 (S416F)	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 3156541	NM_015324.4(RRP8):c.1214G>A (p.Arg405Gln)	RRP8 (R405Q)	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 2618930	NM_015324.4(RRP8):c.172A>G (p.Ser58Gly)	RRP8 (S58G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2556850	NM_015324.4(RRP8):c.572G>A (p.Arg191Gln)	RRP8 (R191Q)	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 2529603	NM_015324.4(RRP8):c.169C>T (p.Pro57Ser)	RRP8 (P57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
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 2463331	NM_015324.4(RRP8):c.571C>T (p.Arg191Trp)	RRP8 (R191W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423019	NC_000011.9:g.(?_6411829)_(6662844_?)dup	APBB1, ARFIP2 +10 more	Duplication	not provided	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 2398893	NM_015324.4(RRP8):c.844C>T (p.Arg282Cys)	RRP8 (R282C)	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 2397619	NM_015324.4(RRP8):c.296A>G (p.Gln99Arg)	RRP8 (Q99R)	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 2388226	NM_015324.4(RRP8):c.734G>A (p.Arg245Gln)	RRP8 (R245Q)	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 2373207	NM_015324.4(RRP8):c.892C>T (p.Arg298Cys)	RRP8 (R298C)	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 2368405	NM_015324.4(RRP8):c.845G>A (p.Arg282His)	RRP8 (R282H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2316365	NM_015324.4(RRP8):c.1241T>C (p.Ile414Thr)	RRP8 (I414T)	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 2306627	NM_015324.4(RRP8):c.764A>G (p.Asn255Ser)	RRP8 (N255S)	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 2290661	NM_015324.4(RRP8):c.691C>G (p.His231Asp)	RRP8 (H231D)	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 2283380	NM_015324.4(RRP8):c.1321G>C (p.Ala441Pro)	RRP8 (A441P)	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 2276279	NM_015324.4(RRP8):c.1166A>C (p.Lys389Thr)	RRP8 (K389T)	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 2204525	NM_015324.4(RRP8):c.113G>A (p.Arg38His)	RRP8 (R38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	OR10A6, RRM1 +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ART1, CD81 +308 more	Copy number gain	See cases	GPathogenic
Select item 1340891	GRCh37/hg19 11p15.4(chr11:6502523-7248333)x3	ARFIP2, DCHS1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1316407	NM_015324.4(RRP8):c.-71T>C	ILK, LOC130005199 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1073290	NC_000011.9:g.(?_6559613)_(6640631_?)del	ILK, RRP8 +3 more	Deletion	not provided	GPathogenic
Select item 1027249	NC_000011.9:g.(?_5709028)_(6640651_?)dup	OR52B2, OR56A5 +31 more	Duplication	not provided	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 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	IFITM3, OR52D1 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 780947	NM_015324.4(RRP8):c.433G>C (p.Ala145Pro)	RRP8 (A145P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780946	NM_015324.4(RRP8):c.723C>T (p.Arg241=)	RRP8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773653	NM_015324.4(RRP8):c.73C>T (p.Pro25Ser)	LOC130005199, RRP8 (P25S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 737472	NM_015324.4(RRP8):c.1252-5C>T	RRP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 713408	NM_015324.4(RRP8):c.1048-6C>T	RRP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 689280	GRCh37/hg19 11p15.4(chr11:5896551-6719852)x3	APBB1, ARFIP2 +25 more	Copy number gain	not provided	GUncertain significance
Select item 685541	GRCh37/hg19 11p15.4(chr11:6607967-6796286)x3	DCHS1, ILK +5 more	Copy number gain	not provided	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	RASSF10, RASSF7 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	OR2AG2, OR2D2 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	OR2AG2, OR2D2 +364 more	Copy number gain	See cases	GPathogenic
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 147641	GRCh38/hg38 11p15.4(chr11:6261582-6637999)x3	APBB1, ARFIP2 +41 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 69