SCUBE3[gene] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 2512584	NM_152753.4(SCUBE3):c.7T>G (p.Ser3Ala)	SCUBE3 (S3A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158795	NM_152753.4(SCUBE3):c.13C>T (p.Arg5Cys)	SCUBE3 (R5C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554853	NM_152753.4(SCUBE3):c.59C>T (p.Ala20Val)	SCUBE3 (A20V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314349	NM_152753.4(SCUBE3):c.144C>G (p.Asn48Lys)	SCUBE3 (N48K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158796	NM_152753.4(SCUBE3):c.146C>T (p.Thr49Ile)	SCUBE3 (T49I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158799	NM_152753.4(SCUBE3):c.157T>C (p.Tyr53His)	SCUBE3 (Y53H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158801	NM_152753.4(SCUBE3):c.211G>A (p.Val71Met)	SCUBE3 (V71M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411817	NM_152753.4(SCUBE3):c.239C>G (p.Ala80Gly)	SCUBE3 (A80G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 981655	NM_152753.4(SCUBE3):c.291C>G (p.Cys97Trp)	SCUBE3 (C97W)	Single nucleotide variant (missense variant)	Abnormality of the dentition +3 more	GPathogenic
Select item 3158806	NM_152753.4(SCUBE3):c.299G>T (p.Gly100Val)	SCUBE3 (G100V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603479	NM_152753.4(SCUBE3):c.383T>G (p.Val128Gly)	SCUBE3 (V128G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1679305	NM_152753.4(SCUBE3):c.406T>C (p.Cys136Arg)	SCUBE3 (C136R)	Single nucleotide variant (missense variant)	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2	GUncertain significance
Select item 716891	NM_152753.4(SCUBE3):c.469+9A>G	SCUBE3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2377024	NM_152753.4(SCUBE3):c.536G>A (p.Gly179Asp)	SCUBE3 (G178D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158807	NM_152753.4(SCUBE3):c.539T>C (p.Ile180Thr)	SCUBE3 (I179T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588530	NM_152753.4(SCUBE3):c.584G>A (p.Arg195Gln)	SCUBE3 (R194Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 981656	NM_152753.4(SCUBE3):c.611G>A (p.Gly204Asp)	SCUBE3 (G203D +1 more)	Single nucleotide variant (missense variant)	Abnormality of the dentition +3 more	GPathogenic
Select item 2352024	NM_152753.4(SCUBE3):c.632C>T (p.Thr211Met)	SCUBE3 (T210M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 708924	NM_152753.4(SCUBE3):c.691A>G (p.Thr231Ala)	SCUBE3 (T231A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3342909	NM_152753.4(SCUBE3):c.712+5G>C	SCUBE3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2324754	NM_152753.4(SCUBE3):c.764C>T (p.Ala255Val)	SCUBE3 (A254V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2664229	NM_152753.4(SCUBE3):c.799A>C (p.Met267Leu)	SCUBE3 (M266L +1 more)	Single nucleotide variant (missense variant)	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2	GUncertain significance
Select item 981657	NM_152753.4(SCUBE3):c.829+3_952+2del	LOC123620094, SCUBE3	Deletion (splice acceptor variant +1 more)	Abnormality of the dentition +3 more	GPathogenic
Select item 2253810	NM_152753.4(SCUBE3):c.844C>T (p.Arg282Cys)	SCUBE3 (R282C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158808	NM_152753.4(SCUBE3):c.852C>A (p.Asn284Lys)	SCUBE3 (N283K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301703	NM_152753.4(SCUBE3):c.905G>T (p.Ser302Ile)	SCUBE3 (S302I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298580	NM_152753.4(SCUBE3):c.909C>G (p.Cys303Trp)	SCUBE3 (C303W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234617	NM_152753.4(SCUBE3):c.1024C>T (p.Leu342Phe)	SCUBE3 (L341F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316741	NM_152753.4(SCUBE3):c.1033C>T (p.Arg345Cys)	SCUBE3 (R344C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158793	NM_152753.4(SCUBE3):c.1093C>T (p.Arg365Trp)	SCUBE3 (R365W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2673056	NM_152753.4(SCUBE3):c.1201C>T (p.Leu401=)	SCUBE3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 786736	NM_152753.4(SCUBE3):c.1229C>T (p.Ser410Leu)	SCUBE3 (S409L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2524167	NM_152753.4(SCUBE3):c.1238T>C (p.Met413Thr)	SCUBE3 (M413T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065012	NM_152753.4(SCUBE3):c.1252C>T (p.Arg418Trp)	SCUBE3 (R417W +1 more)	Single nucleotide variant (missense variant)	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2	GUncertain significance
Select item 3158794	NM_152753.4(SCUBE3):c.1258G>A (p.Gly420Ser)	SCUBE3 (G420S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656507	NM_152753.4(SCUBE3):c.1301G>A (p.Arg434Gln)	SCUBE3 (R433Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2374072	NM_152753.4(SCUBE3):c.1331C>T (p.Thr444Met)	SCUBE3 (T443M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158797	NM_152753.4(SCUBE3):c.1478G>A (p.Arg493His)	SCUBE3 (R493H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336500	NM_152753.4(SCUBE3):c.1511A>C (p.Glu504Ala)	SCUBE3 (E504A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405773	NM_152753.4(SCUBE3):c.1514C>A (p.Ala505Asp)	SCUBE3 (A505D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557143	NM_152753.4(SCUBE3):c.1529G>A (p.Gly510Glu)	SCUBE3 (G509E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 996779	NM_152753.4(SCUBE3):c.1557C>A (p.Cys519Ter)	SCUBE3 (C518* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2471748	NM_152753.4(SCUBE3):c.1595G>A (p.Arg532Gln)	SCUBE3 (R531Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456424	NM_152753.4(SCUBE3):c.1613G>A (p.Arg538Gln)	SCUBE3 (R537Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238668	NM_152753.4(SCUBE3):c.1622C>T (p.Thr541Ile)	SCUBE3 (T540I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222497	NM_152753.4(SCUBE3):c.1631G>C (p.Gly544Ala)	SCUBE3 (G544A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216954	NM_152753.4(SCUBE3):c.1631G>A (p.Gly544Asp)	SCUBE3 (G544D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 981658	NM_152753.4(SCUBE3):c.1717C>T (p.Arg573Ter)	SCUBE3 (R572* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2330067	NM_152753.4(SCUBE3):c.1728G>C (p.Met576Ile)	SCUBE3 (M576I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2637549	NM_152753.4(SCUBE3):c.1735C>T (p.Arg579Trp)	SCUBE3 (R578W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316744	NM_152753.4(SCUBE3):c.1759C>A (p.Leu587Ile)	SCUBE3 (L586I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158800	NM_152753.4(SCUBE3):c.1796G>A (p.Arg599His)	SCUBE3 (R599H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208117	NM_152753.4(SCUBE3):c.1846G>A (p.Gly616Arg)	SCUBE3 (G615R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315430	NM_152753.4(SCUBE3):c.1851G>T (p.Glu617Asp)	SCUBE3 (E617D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 731719	NM_152753.4(SCUBE3):c.1894G>A (p.Ala632Thr)	SCUBE3 (A632T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3316743	NM_152753.4(SCUBE3):c.1939G>A (p.Gly647Ser)	LOC126859661, SCUBE3 (G646S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494988	NM_152753.4(SCUBE3):c.1976C>A (p.Thr659Asn)	LOC126859661, SCUBE3 (T658N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591586	NM_152753.4(SCUBE3):c.2063C>T (p.Thr688Met)	LOC126859661, SCUBE3 (T688M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316745	NM_152753.4(SCUBE3):c.2094C>A (p.His698Gln)	LOC126859661, SCUBE3 (H697Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306930	NM_152753.4(SCUBE3):c.2159G>A (p.Arg720Gln)	LOC126859661, SCUBE3 (R719Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3342701	NM_152753.4(SCUBE3):c.2186dup (p.Leu730fs)	LOC126859661, SCUBE3 (L729fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 981659	NM_152753.4(SCUBE3):c.2239+1G>A	LOC126859661, SCUBE3	Single nucleotide variant (splice donor variant)	Abnormality of the dentition +3 more	GPathogenic
Select item 3158802	NM_152753.4(SCUBE3):c.2282G>A (p.Arg761His)	SCUBE3 (R760H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2673057	NM_152753.4(SCUBE3):c.2317G>A (p.Asp773Asn)	SCUBE3 (D772N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2469223	NM_152753.4(SCUBE3):c.2324G>A (p.Arg775His)	SCUBE3 (R775H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316740	NM_152753.4(SCUBE3):c.2333T>C (p.Phe778Ser)	SCUBE3 (F778S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316742	NM_152753.4(SCUBE3):c.2384G>A (p.Ser795Asn)	SCUBE3 (S794N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656508	NM_152753.4(SCUBE3):c.2402-7G>A	SCUBE3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 981660	NM_152753.4(SCUBE3):c.2444T>C (p.Ile815Thr)	SCUBE3 (I814T +1 more)	Single nucleotide variant (missense variant)	Abnormality of the dentition +4 more	GPathogenic/Likely pathogenic
Select item 161817	NM_152753.4(SCUBE3):c.2462C>T (p.Pro821Leu)	SCUBE3 (P821L +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3158804	NM_152753.4(SCUBE3):c.2489G>A (p.Cys830Tyr)	SCUBE3 (C829Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359946	NM_152753.4(SCUBE3):c.2504A>G (p.Asn835Ser)	SCUBE3 (N834S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496155	NM_152753.4(SCUBE3):c.2533G>A (p.Val845Met)	SCUBE3 (V844M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318637	NM_152753.4(SCUBE3):c.2584G>A (p.Val862Ile)	SCUBE3 (V862I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 981661	NM_152753.4(SCUBE3):c.2599+2T>C	SCUBE3	Single nucleotide variant (splice donor variant)	Abnormality of the dentition +3 more	GPathogenic
Select item 2247845	NM_152753.4(SCUBE3):c.2606C>T (p.Pro869Leu)	SCUBE3 (P868L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306630	NM_152753.4(SCUBE3):c.2651C>T (p.Pro884Leu)	SCUBE3 (P883L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214871	NM_152753.4(SCUBE3):c.2703C>A (p.Ser901Arg)	SCUBE3 (S901R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 981662	NM_152753.4(SCUBE3):c.2785C>T (p.Arg929Ter)	SCUBE3 (R928* +1 more)	Single nucleotide variant (nonsense)	Abnormality of the dentition +3 more	GPathogenic
Select item 3065011	NM_152753.4(SCUBE3):c.2795G>A (p.Arg932Gln)	SCUBE3 (R931Q +1 more)	Single nucleotide variant (missense variant)	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2	GUncertain significance
Select item 3158805	NM_152753.4(SCUBE3):c.2815C>T (p.His939Tyr)	SCUBE3 (H939Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656509	NM_152753.4(SCUBE3):c.2821G>A (p.Glu941Lys)	SCUBE3 (E940K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342702	NM_152753.4(SCUBE3):c.2859T>G (p.Phe953Leu)	SCUBE3 (F952L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563171	GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3	UHRF1BP1, SRSF3 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 996761	NG_050574.1:g.29310_309865delins27802_27890inv	SCUBE3	Indel	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2	GPathogenic

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Items: 92