ClinVar for Gene (Select 57509) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3218603	NM_001363059.2(MTUS1):c.443G>A (p.Cys148Tyr)	MTUS1 (C148Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218601	NM_001363059.2(MTUS1):c.3799A>G (p.Ile1267Val)	MTUS1 (I1267V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3218599	NM_001363059.2(MTUS1):c.3788C>G (p.Pro1263Arg)	MTUS1 (P1209R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218593	NM_001363059.2(MTUS1):c.3705C>G (p.His1235Gln)	MTUS1 (H1181Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218579	NM_001363059.2(MTUS1):c.3299A>G (p.Asn1100Ser)	MTUS1 (N1046S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3218574	NM_001363059.2(MTUS1):c.3295A>G (p.Ile1099Val)	MTUS1 (I1045V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218571	NM_001363059.2(MTUS1):c.3281C>T (p.Ser1094Leu)	MTUS1 (S239L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218560	NM_001363059.2(MTUS1):c.3202G>A (p.Ala1068Thr)	MTUS1 (A315T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3218552	NM_001363059.2(MTUS1):c.2972C>T (p.Ala991Val)	MTUS1 (A63V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218550	NM_001363059.2(MTUS1):c.2795A>C (p.Lys932Thr)	MTUS1 (K932T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218544	NM_001363059.2(MTUS1):c.2685T>A (p.Asp895Glu)	MTUS1 (D841E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218540	NM_001363059.2(MTUS1):c.2684A>G (p.Asp895Gly)	MTUS1 (D841G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218535	NM_001363059.2(MTUS1):c.2668C>T (p.Pro890Ser)	MTUS1 (P137S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218531	NM_001363059.2(MTUS1):c.2614C>G (p.Leu872Val)	MTUS1 (L17V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218520	NM_001363059.2(MTUS1):c.219C>G (p.Ser73Arg)	MTUS1 (S73R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218513	NM_001363059.2(MTUS1):c.2152G>A (p.Gly718Ser)	MTUS1 (G718S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3218509	NM_001363059.2(MTUS1):c.1795C>T (p.His599Tyr)	MTUS1 (H599Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2658447	NM_001363059.2(MTUS1):c.1881C>T (p.Thr627=)	MTUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658446	NM_001363059.2(MTUS1):c.1930A>C (p.Lys644Gln)	MTUS1 (K644Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2658445	NM_001363059.2(MTUS1):c.3313G>C (p.Glu1105Gln)	MTUS1 (E1051Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2592741	NM_001363059.2(MTUS1):c.2867C>G (p.Thr956Ser)	LOC124153111, MTUS1 (T902S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2529353	NM_001363059.2(MTUS1):c.3208C>G (p.Leu1070Val)	MTUS1 (L1016V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528917	NM_001363059.2(MTUS1):c.2519G>C (p.Gly840Ala)	MTUS1 (G786A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526239	NM_001363059.2(MTUS1):c.2507A>G (p.Asn836Ser)	MTUS1 (N836S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2515514	NM_001363059.2(MTUS1):c.2860C>G (p.His954Asp)	LOC124153111, MTUS1 (H201D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426516	NC_000008.10:g.(?_16850399)_(17885171_?)dup	CNOT7, FGF20 +9 more	Duplication	not provided	GUncertain significance
Select item 2408581	NM_001363059.2(MTUS1):c.647C>T (p.Thr216Met)	MTUS1 (T216M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2388046	NM_001363059.2(MTUS1):c.3115A>C (p.Asn1039His)	MTUS1 (N184H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387381	NM_001363059.2(MTUS1):c.1435T>A (p.Leu479Ile)	MTUS1 (L479I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376082	NM_001363059.2(MTUS1):c.1078A>G (p.Ser360Gly)	MTUS1 (S360G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373157	NM_001363059.2(MTUS1):c.80A>G (p.His27Arg)	MTUS1 (H27R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372093	NM_001363059.2(MTUS1):c.877A>G (p.Thr293Ala)	MTUS1 (T293A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359301	NM_001363059.2(MTUS1):c.2707C>T (p.Leu903Phe)	MTUS1 (L69F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353727	NM_001363059.2(MTUS1):c.3068T>C (p.Ile1023Thr)	MTUS1 (I270T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350463	NM_001363059.2(MTUS1):c.2990A>G (p.Gln997Arg)	MTUS1 (Q69R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332797	NM_001363059.2(MTUS1):c.3643A>G (p.Lys1215Glu)	MTUS1 (K360E +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2332561	NM_001363059.2(MTUS1):c.2771A>G (p.Gln924Arg)	MTUS1 (Q870R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316196	NM_001363059.2(MTUS1):c.3781T>C (p.Ser1261Pro)	MTUS1 (S1207P +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2301620	NM_001363059.2(MTUS1):c.3355A>G (p.Lys1119Glu)	MTUS1 (K1065E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294162	NM_001363059.2(MTUS1):c.2484A>T (p.Lys828Asn)	MTUS1 (K774N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2247062	NM_001363059.2(MTUS1):c.3248C>T (p.Ser1083Leu)	MTUS1 (S228L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238134	NM_001363059.2(MTUS1):c.3359G>C (p.Arg1120Thr)	MTUS1 (R192T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237969	NM_001363059.2(MTUS1):c.769G>C (p.Val257Leu)	MTUS1 (V257L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234103	NM_001363059.2(MTUS1):c.745G>A (p.Val249Met)	MTUS1 (V249M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215445	NM_001363059.2(MTUS1):c.3784T>C (p.Phe1262Leu)	MTUS1 (F1262L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1808309	GRCh37/hg19 8p22(chr8:17652372-17732164)x1	FGL1, MTUS1	Copy number loss	not provided	GUncertain significance
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	ZNF705B, ZNF705D +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	ADAM32, ADAM7 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ASAH1-AS1, ASH2L +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527422	GRCh37/hg19 8p22-21.3(chr8:15935542-19321304)	ASAH1, ASAH1-AS1 +17 more	Copy number gain	not specified	GUncertain significance
Select item 1377072	NC_000008.10:g.(?_16850399)_(20112692_?)dup	ASAH1, ASAH1-AS1 +21 more	Duplication	Hereditary spastic paraplegia 53	GUncertain significance
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	AP3M2, FAM86B1 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 815106	GRCh37/hg19 8p22(chr8:17657220-17942959)x3	ASAH1, PCM1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815105	GRCh37/hg19 8p22(chr8:17652402-17836331)x1	PCM1, MTUS1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 783516	NM_001363059.2(MTUS1):c.223C>A (p.Gln75Lys)	MTUS1 (Q75K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 778390	NM_001363059.2(MTUS1):c.2624-9G>A	MTUS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777177	NM_001363059.2(MTUS1):c.2996A>G (p.Glu999Gly)	MTUS1 (E165G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 776286	NM_001363059.2(MTUS1):c.1253T>G (p.Met418Arg)	MTUS1 (M418R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 774880	NM_001363059.2(MTUS1):c.1724A>G (p.His575Arg)	MTUS1 (H575R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 709244	NM_001363059.2(MTUS1):c.972A>T (p.Ser324=)	MTUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 689081	GRCh37/hg19 8p22(chr8:17457722-17520324)x3	MTUS1, PDGFRL	Copy number gain	not provided	GUncertain significance
Select item 688797	GRCh37/hg19 8p22(chr8:17474031-17883039)x1	FGL1, MTUS1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 688154	GRCh37/hg19 8p22(chr8:17487884-17883260)x1	FGL1, MTUS1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687534	GRCh37/hg19 8p22(chr8:17575940-18443131)x3	ASAH1, ASAH1-AS1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 685944	GRCh37/hg19 8p22(chr8:17465054-17864004)x3	FGL1, MTUS1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	ADAM28, ADAM7 +111 more	Copy number gain	not provided	GPathogenic
Select item 523288	GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	ADAM28, ADAM7 +77 more	Copy number gain	Intellectual disability, mild +7 more	GPathogenic
Select item 503589	GRCh37/hg19 8p22(chr8:17294405-17919470)x3	ASAH1, PCM1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ADAM28, ADAM7 +129 more	Copy number gain	See cases	GPathogenic
Select item 443620	GRCh37/hg19 8p22(chr8:17623587-18133683)x3	ASAH1, ASAH1-AS1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	PPP1R16A, PPP1R42 +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM32, ADAM18 +186 more	Copy number gain	See cases	GPathogenic
Select item 442982	GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	ADAM28, ADAM7 +123 more	Copy number gain	See cases	GPathogenic
Select item 442555	GRCh37/hg19 8p23.1-22(chr8:11935023-18814062)x3	ASAH1, ASAH1-AS1 +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	NSD3, NSMAF +665 more	Copy number gain	See cases	GPathogenic
Select item 441074	GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	LEPROTL1, LGI3 +109 more	Copy number loss	not provided	Gnot provided
Select item 395720	GRCh37/hg19 8p22-21.2(chr8:13091530-24483615)	ADAM28, ADAM7 +68 more	Copy number loss	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 394721	GRCh37/hg19 8p22(chr8:16657256-17861898)x3	CNOT7, FGF20 +9 more	Copy number gain	See cases	GUncertain significance
Select item 394656	GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4	AGPAT5, ANGPT2 +86 more	Copy number gain	See cases	GPathogenic

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