20076[HGNC] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	BMAL1, BTBD10 +208 more	Copy number loss	See cases	GPathogenic
Select item 2597856	NM_001282659.2(USP47):c.283G>A (p.Ala95Thr)	USP47 (A89T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187714	NM_001282659.2(USP47):c.286A>C (p.Asn96His)	USP47 (N116H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641607	NM_001282659.2(USP47):c.309C>T (p.Asn103=)	USP47	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2332849	NM_001282659.2(USP47):c.394A>G (p.Arg132Gly)	USP47 (R152G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304986	NM_001282659.2(USP47):c.439A>G (p.Ser147Gly)	USP47 (S147G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187703	NM_001282659.2(USP47):c.448G>A (p.Val150Ile)	USP47 (V150I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601220	NM_001282659.2(USP47):c.691A>G (p.Ile231Val)	USP47 (I225V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589746	NM_001282659.2(USP47):c.712A>G (p.Arg238Gly)	USP47 (R170G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221278	NM_001282659.2(USP47):c.1061G>A (p.Arg354Gln)	USP47 (R286Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187715	NM_001282659.2(USP47):c.1139T>C (p.Met380Thr)	USP47 (M300T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187716	NM_001282659.2(USP47):c.1186G>C (p.Asp396His)	USP47 (D328H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296619	NM_001282659.2(USP47):c.1189A>C (p.Met397Leu)	USP47 (M329L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251760	NM_001282659.2(USP47):c.1255G>A (p.Ala419Thr)	USP47 (A413T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213890	NM_001282659.2(USP47):c.1291A>G (p.Ser431Gly)	USP47 (S257G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465288	NM_001282659.2(USP47):c.1442G>C (p.Gly481Ala)	USP47 (G413A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376975	NM_001282659.2(USP47):c.1565G>A (p.Ser522Asn)	USP47 (S348N +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544058	NM_001282659.2(USP47):c.1751G>A (p.Arg584His)	USP47 (R540H +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187699	NM_001282659.2(USP47):c.1787C>G (p.Pro596Arg)	USP47 (P546R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326762	NM_001282659.2(USP47):c.1850C>T (p.Ala617Val)	USP47 (A573V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271169	NM_001282659.2(USP47):c.1859T>G (p.Met620Arg)	USP47 (M540R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331597	NM_001282659.2(USP47):c.1960G>A (p.Gly654Arg)	USP47 (G480R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361146	NM_001282659.2(USP47):c.2023C>A (p.Leu675Met)	USP47 (L501M +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187700	NM_001282659.2(USP47):c.2134A>G (p.Ile712Val)	USP47 (I644V +11 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2226590	NM_001282659.2(USP47):c.2150A>G (p.Tyr717Cys)	USP47 (Y543C +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274861	NM_001282659.2(USP47):c.2164G>A (p.Val722Ile)	USP47 (V548I +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187701	NM_001282659.2(USP47):c.2168C>A (p.Thr723Lys)	USP47 (T717K +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397249	NM_001282659.2(USP47):c.2199C>G (p.Ile733Met)	USP47 (I653M +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488997	NM_001282659.2(USP47):c.2332G>A (p.Glu778Lys)	USP47 (E710K +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373910	NM_001282659.2(USP47):c.2392C>T (p.His798Tyr)	USP47 (H729Y +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594701	NM_001282659.2(USP47):c.2432A>G (p.Gln811Arg)	USP47 (Q742R +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589812	NM_001282659.2(USP47):c.2482G>A (p.Asp828Asn)	USP47 (D778N +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397598	NM_001282659.2(USP47):c.2501A>G (p.Asp834Gly)	USP47 (D766G +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402925	NM_001282659.2(USP47):c.2657A>G (p.Glu886Gly)	USP47 (E712G +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331598	NM_001282659.2(USP47):c.2864A>T (p.Asp955Val)	USP47 (D781V +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187704	NM_001282659.2(USP47):c.2937T>A (p.Asn979Lys)	USP47 (N910K +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245700	NM_001282659.2(USP47):c.3056A>T (p.Tyr1019Phe)	USP47 (Y1012F +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331599	NM_001282659.2(USP47):c.3071G>A (p.Gly1024Asp)	USP47 (G955D +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187705	NM_001282659.2(USP47):c.3226C>T (p.Arg1076Trp)	USP47 (R1008W +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225638	NM_001282659.2(USP47):c.3302G>A (p.Gly1101Glu)	USP47 (G1095E +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732978	NM_001282659.2(USP47):c.3330T>G (p.Leu1110=)	USP47	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2516404	NM_001282659.2(USP47):c.3332T>C (p.Leu1111Ser)	USP47 (L1031S +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280804	NM_001282659.2(USP47):c.3338A>G (p.Asn1113Ser)	USP47 (N1069S +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187706	NM_001282659.2(USP47):c.3359T>G (p.Phe1120Cys)	USP47 (F1119C +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331600	NM_001282659.2(USP47):c.3394G>A (p.Val1132Ile)	USP47 (V1064I +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187707	NM_001282659.2(USP47):c.3397C>T (p.Arg1133Trp)	USP47 (R1065W +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187708	NM_001282659.2(USP47):c.3409G>A (p.Glu1137Lys)	USP47 (E1131K +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597893	NM_001282659.2(USP47):c.3418A>T (p.Ile1140Phe)	USP47 (I1060F +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187709	NM_001282659.2(USP47):c.3443G>A (p.Gly1148Asp)	USP47 (G1079D +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187710	NM_001282659.2(USP47):c.3455G>C (p.Ser1152Thr)	USP47 (S1072T +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187711	NM_001282659.2(USP47):c.3512T>C (p.Leu1171Ser)	USP47 (L1103S +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641608	NM_001282659.2(USP47):c.3583+5T>A	USP47	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2396487	NM_001282659.2(USP47):c.3632G>A (p.Arg1211Gln)	USP47 (R1161Q +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187712	NM_001282659.2(USP47):c.3673G>A (p.Val1225Ile)	USP47 (V1175I +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367854	NM_001282659.2(USP47):c.3692G>A (p.Ser1231Asn)	USP47 (S1151N +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252767	NM_001282659.2(USP47):c.3800A>C (p.Asp1267Ala)	USP47 (D1171A +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219418	NM_001282659.2(USP47):c.3878C>T (p.Ala1293Val)	USP47 (A1243V +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187713	NM_001282659.2(USP47):c.3884T>C (p.Ile1295Thr)	USP47 (I1226T +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220580	NM_001282659.2(USP47):c.3983A>G (p.His1328Arg)	USP47 (H1248R +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403672	NM_001282659.2(USP47):c.3986G>T (p.Arg1329Leu)	USP47 (R1249L +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596540	NM_001282659.2(USP47):c.4027T>C (p.Tyr1343His)	USP47 (Y1247H +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1341045	GRCh37/hg19 11p15.3(chr11:11525579-11874905)x3	GALNT18, USP47	Copy number gain	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 684926	GRCh37/hg19 11p15.3(chr11:11461387-12258307)x1	DKK3, GALNT18 +2 more	Copy number loss	not provided	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic

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Items: 75