RPUSD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 148917	GRCh38/hg38 16p13.3(chr16:46766-882211)x1	NHLRC4, NME4 +119 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 152879	GRCh38/hg38 16p13.3(chr16:59980-1221651)x1	ANTKMT, ARHGDIG +130 more	Copy number loss	See cases	GPathogenic
Select item 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 150513	GRCh38/hg38 16p13.3(chr16:412341-925326)x3	ANTKMT, CAPN15 +76 more	Copy number gain	See cases	GUncertain significance
Select item 151633	GRCh38/hg38 16p13.3(chr16:636673-786508)x3	ANTKMT, CCDC78 +40 more	Copy number gain	See cases	GBenign
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 148466	GRCh38/hg38 16p13.3(chr16:742199-1019543)x1	CEROX1, CHTF18 +18 more	Copy number loss	See cases	GUncertain significance
Select item 154698	GRCh38/hg38 16p13.3(chr16:752357-1064093)x1	CEROX1, CHTF18 +21 more	Copy number loss	See cases	GUncertain significance
Select item 145780	GRCh38/hg38 16p13.3(chr16:774069-813010)x3	CHTF18, GNG13 +8 more	Copy number gain	See cases	GBenign
Select item 3156337	NM_058192.3(RPUSD1):c.929C>T (p.Pro310Leu)	RPUSD1 (P184L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386808	NM_058192.3(RPUSD1):c.916T>C (p.Trp306Arg)	RPUSD1 (W180R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315364	NM_058192.3(RPUSD1):c.899T>C (p.Leu300Pro)	RPUSD1 (L174P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156336	NM_058192.3(RPUSD1):c.860C>T (p.Thr287Ile)	RPUSD1 (T158I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517485	NM_058192.3(RPUSD1):c.859A>G (p.Thr287Ala)	RPUSD1 (T271A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274548	NM_058192.3(RPUSD1):c.842G>A (p.Arg281Gln)	RPUSD1 (R152Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329605	NM_058192.3(RPUSD1):c.838G>T (p.Gly280Cys)	RPUSD1 (G264C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315365	NM_058192.3(RPUSD1):c.787G>A (p.Glu263Lys)	RPUSD1 (E247K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521271	NM_058192.3(RPUSD1):c.773C>T (p.Pro258Leu)	RPUSD1 (P132L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372205	NM_058192.3(RPUSD1):c.770C>A (p.Thr257Asn)	RPUSD1 (T257N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606679	NM_058192.3(RPUSD1):c.769A>T (p.Thr257Ser)	RPUSD1 (T257S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645863	NM_058192.3(RPUSD1):c.750C>G (p.Leu250=)	RPUSD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3156333	NM_058192.3(RPUSD1):c.737C>T (p.Ser246Leu)	RPUSD1 (S117L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409836	NM_058192.3(RPUSD1):c.736T>C (p.Ser246Pro)	RPUSD1 (S120P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3156332	NM_058192.3(RPUSD1):c.694C>T (p.Pro232Ser)	RPUSD1 (P106S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316050	NM_058192.3(RPUSD1):c.685C>T (p.Pro229Ser)	RPUSD1 (P232S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543393	NM_058192.3(RPUSD1):c.677C>T (p.Thr226Met)	RPUSD1 (T229M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156331	NM_058192.3(RPUSD1):c.658G>A (p.Glu220Lys)	RPUSD1 (E220K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315363	NM_058192.3(RPUSD1):c.628G>T (p.Ala210Ser)	RPUSD1 (A194S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534164	NM_058192.3(RPUSD1):c.626A>G (p.His209Arg)	RPUSD1 (H83R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156330	NM_058192.3(RPUSD1):c.617T>C (p.Met206Thr)	RPUSD1 (M80T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156329	NM_058192.3(RPUSD1):c.596G>A (p.Arg199Gln)	RPUSD1 (R183Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2377486	NM_058192.3(RPUSD1):c.580G>A (p.Gly194Arg)	RPUSD1 (G197R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354978	NM_058192.3(RPUSD1):c.548T>C (p.Leu183Pro)	RPUSD1 (L57P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297339	NM_058192.3(RPUSD1):c.530G>A (p.Arg177His)	RPUSD1 (R180H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161795	NM_058192.3(RPUSD1):c.521A>G (p.His174Arg)	RPUSD1 (H174R +4 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2624017	NM_058192.3(RPUSD1):c.488A>G (p.Lys163Arg)	RPUSD1 (K166R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474950	NM_058192.3(RPUSD1):c.433C>G (p.Leu145Val)	RPUSD1 (L148V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262962	NM_058192.3(RPUSD1):c.428C>T (p.Pro143Leu)	RPUSD1 (Q109* +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207762	NM_058192.3(RPUSD1):c.373G>A (p.Gly125Ser)	RPUSD1 (G109S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3315367	NM_058192.3(RPUSD1):c.368C>T (p.Thr123Met)	RPUSD1 (T107M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3156326	NM_058192.3(RPUSD1):c.364A>G (p.Ser122Gly)	RPUSD1 (S122G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2616501	NM_058192.3(RPUSD1):c.344G>C (p.Ser115Thr)	RPUSD1 (S99T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2357620	NM_058192.3(RPUSD1):c.316C>T (p.His106Tyr)	RPUSD1 (H106Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2206764	NM_058192.3(RPUSD1):c.308T>C (p.Leu103Pro)	RPUSD1 (L103P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2393065	NM_058192.3(RPUSD1):c.284T>C (p.Val95Ala)	RPUSD1 (V95A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3156324	NM_058192.3(RPUSD1):c.278G>A (p.Arg93Gln)	RPUSD1 (R77Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3156323	NM_058192.3(RPUSD1):c.247G>A (p.Ala83Thr)	RPUSD1 (A67T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156322	NM_058192.3(RPUSD1):c.175G>C (p.Gly59Arg)	RPUSD1 (G59R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3156321	NM_058192.3(RPUSD1):c.134G>A (p.Arg45Gln)	RPUSD1 (R45Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2211502	NM_058192.3(RPUSD1):c.110C>G (p.Thr37Ser)	RPUSD1 (T37S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3156320	NM_058192.3(RPUSD1):c.103C>T (p.Arg35Trp)	RPUSD1 (R35W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3315368	NM_058192.3(RPUSD1):c.88G>A (p.Asp30Asn)	RPUSD1 (D30N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3156334	NM_058192.3(RPUSD1):c.83G>A (p.Arg28His)	RPUSD1 (R28H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2382301	NM_058192.3(RPUSD1):c.65A>G (p.Asn22Ser)	RPUSD1 (N22S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3156327	NM_058192.3(RPUSD1):c.41G>A (p.Arg14Gln)	RPUSD1 (R14Q)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3315366	NM_058192.3(RPUSD1):c.14G>A (p.Ser5Asn)	RPUSD1 (S5N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	ANTKMT, ARHGDIG +53 more	Deletion	not provided	GPathogenic
Select item 3243338	NC_000016.9:g.(?_396128)_(1204056_?)dup	ANTKMT, AXIN1 +34 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 2498682	GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	BAIAP3, C1QTNF8 +52 more	Copy number loss	not provided	GPathogenic
Select item 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	ANTKMT, ARHGDIG +64 more	Deletion	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	ANTKMT, ARHGDIG +67 more	Deletion	not provided	GUncertain significance
Select item 2425969	NC_000016.9:g.(?_256302)_(1657267_?)del	ANTKMT, ARHGDIG +55 more	Deletion	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	CAPN15, CCDC154 +170 more	Duplication	Hyperaldosteronism, familial, type IV +3 more	GUncertain significance
Select item 1808731	GRCh37/hg19 16p13.3(chr16:85881-1350186)x1	ANTKMT, ARHGDIG +53 more	Copy number loss	not provided	GPathogenic
Select item 1808202	GRCh37/hg19 16p13.3(chr16:726789-1066511)x1	ANTKMT, CCDC78 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526481	GRCh37/hg19 16p13.3(chr16:85880-1468828)	ANTKMT, MRPL28 +58 more	Copy number loss	not specified	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1047658	NC_000016.9:g.(?_765584)_(1204036_?)del	ANTKMT, C1QTNF8 +13 more	Deletion	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	ANTKMT, WDR90 +71 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	HS3ST6, IFT140 +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	ANTKMT, BAIAP3 +71 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 815769	GRCh37/hg19 16p13.3(chr16:364182-1186480)x3	PRR25, LMF1 +33 more	Copy number gain	not provided	GUncertain significance
Select item 815766	GRCh37/hg19 16p13.3(chr16:85880-1166355)x1	SNRNP25, C1QTNF8 +48 more	Copy number loss	not provided	GPathogenic
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 687431	GRCh37/hg19 16p13.3(chr16:85880-1468459)x1	ANTKMT, ARHGDIG +58 more	Copy number loss	not provided	GPathogenic
Select item 655214	NC_000016.9:g.(?_624055)_(2115656_?)del	SYNGR3, UQCC4 +69 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 564252	GRCh37/hg19 16p13.3(chr16:85880-1875694)x1	PDIA2, POLR3K +75 more	Copy number loss	not provided	GPathogenic
Select item 564251	GRCh37/hg19 16p13.3(chr16:85880-1498731)x1	PGAP6, TSR3 +61 more	Copy number loss	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic

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