12617[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 155443	GRCh38/hg38 3p21.31(chr3:48950685-49171381)x4	ARIH2, CCDC71 +34 more	Copy number gain	See cases	GUncertain significance
Select item 2470351	NM_001199161.2(USP19):c.4039-477G>A	USP19 (V1304M +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467052	NM_001199161.2(USP19):c.4039-482C>G	USP19 (A1304G +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606910	NM_001199161.2(USP19):c.4039-518G>A	USP19 (R1378Q +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372524	NM_001199161.2(USP19):c.4039-543A>T	USP19 (T1269S +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605038	NM_001199161.2(USP19):c.4039-591G>A	USP19 (G1317S +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556267	NM_001199161.2(USP19):c.4039-599G>A	USP19 (G1349E +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 737304	NM_001199161.2(USP19):c.4039-607G>A	USP19	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2539408	NM_001199161.2(USP19):c.4000C>T (p.Pro1334Ser)	USP19 (P1321S +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468045	NM_001199161.2(USP19):c.3949C>T (p.Arg1317Trp)	USP19 (R1201W +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393475	NM_001199161.2(USP19):c.3893C>T (p.Thr1298Met)	USP19 (T1182M +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609003	NM_001199161.2(USP19):c.3742C>A (p.Gln1248Lys)	USP19 (Q1132K +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775869	NM_001199161.2(USP19):c.3698+8G>T	USP19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2315757	NM_001199161.2(USP19):c.3628C>T (p.Leu1210Phe)	USP19 (L1107F +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534102	NM_001199161.2(USP19):c.3563A>G (p.Lys1188Arg)	USP19 (K1074R +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331367	NM_001199161.2(USP19):c.3494A>T (p.Gln1165Leu)	USP19 (Q1064L +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518659	NM_001199161.2(USP19):c.3487C>G (p.Leu1163Val)	USP19 (L1146V +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303503	NM_001199161.2(USP19):c.3470G>A (p.Arg1157Gln)	USP19 (R1054Q +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467577	NM_001199161.2(USP19):c.3457G>A (p.Gly1153Ser)	USP19 (G1037S +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187228	NM_001199161.2(USP19):c.3392G>A (p.Arg1131His)	USP19 (R1028H +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187227	NM_001199161.2(USP19):c.3349G>T (p.Gly1117Cys)	USP19 (G1014C +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331370	NM_001199161.2(USP19):c.3256A>G (p.Asn1086Asp)	USP19 (N1068D +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457594	NM_001199161.2(USP19):c.3253A>T (p.Met1085Leu)	USP19 (M1033L +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408849	NM_001199161.2(USP19):c.3209G>A (p.Arg1070Gln)	USP19 (R1045Q +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329400	NM_001199161.2(USP19):c.3202G>T (p.Val1068Leu)	USP19 (V1043L +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399566	NM_001199161.2(USP19):c.3116G>T (p.Gly1039Val)	USP19 (G1041V +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378214	NM_001199161.2(USP19):c.3113G>A (p.Arg1038Gln)	USP19 (R1022Q +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353617	NM_001199161.2(USP19):c.3112C>T (p.Arg1038Trp)	USP19 (R1020W +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320764	NM_001199161.2(USP19):c.3089C>A (p.Pro1030His)	USP19 (P1005H +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399756	NM_001199161.2(USP19):c.2839G>T (p.Val947Phe)	USP19 (V831F +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307696	NM_001199161.2(USP19):c.2812C>G (p.Pro938Ala)	USP19 (P924A +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331358	NM_001199161.2(USP19):c.2788C>G (p.Pro930Ala)	USP19 (P827A +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187226	NM_001199161.2(USP19):c.2708C>G (p.Ser903Trp)	USP19 (S787W +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298072	NM_001199161.2(USP19):c.2708C>T (p.Ser903Leu)	USP19 (S802L +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331369	NM_001199161.2(USP19):c.2696G>A (p.Arg899Gln)	USP19 (R796Q +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187225	NM_001199161.2(USP19):c.2619G>C (p.Glu873Asp)	USP19 (E757D +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782426	NM_001199161.2(USP19):c.2519G>A (p.Arg840His)	USP19 (R724H +15 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2377248	NM_001199161.2(USP19):c.2510T>C (p.Ile837Thr)	USP19 (I721T +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213492	NM_001199161.2(USP19):c.2485G>A (p.Glu829Lys)	USP19 (E713K +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307265	NM_001199161.2(USP19):c.2398A>T (p.Ile800Phe)	USP19 (I684F +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187223	NM_001199161.2(USP19):c.2359C>T (p.Pro787Ser)	USP19 (P673S +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494524	NM_001199161.2(USP19):c.2353G>A (p.Val785Ile)	USP19 (V771I +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331363	NM_001199161.2(USP19):c.2338C>T (p.Pro780Ser)	USP19 (P666S +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708752	NM_001199161.2(USP19):c.2292+7T>C	USP19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2548224	NM_001199161.2(USP19):c.2278C>T (p.Pro760Ser)	USP19 (P646S +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222893	NM_001199161.2(USP19):c.2232C>G (p.Phe744Leu)	USP19 (F719L +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331372	NM_001199161.2(USP19):c.2216T>A (p.Met739Lys)	USP19 (M714K +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239556	NM_001199161.2(USP19):c.2207G>A (p.Arg736Gln)	USP19 (R721Q +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477732	NM_001199161.2(USP19):c.2186T>C (p.Val729Ala)	USP19 (V628A +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512894	NM_001199161.2(USP19):c.1973G>A (p.Arg658Gln)	USP19 (R544Q +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275187	NM_001199161.2(USP19):c.1963G>A (p.Val655Met)	USP19 (V539M +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622442	NM_001199161.2(USP19):c.1943G>A (p.Arg648His)	USP19 (R545H +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331361	NM_001199161.2(USP19):c.1764A>C (p.Glu588Asp)	USP19 (E536D +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558166	NM_001199161.2(USP19):c.1664C>T (p.Thr555Ile)	USP19 (T456I +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371430	NM_001199161.2(USP19):c.1664C>A (p.Thr555Asn)	USP19 (T452N +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 375397	NM_001199161.2(USP19):c.1660G>T (p.Val554Leu)	USP19 (V542L +15 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GPathogenic
Select item 3187220	NM_001199161.2(USP19):c.1629C>G (p.Asp543Glu)	USP19 (D429E +19 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518010	NM_001199161.2(USP19):c.1616A>G (p.Asp539Gly)	USP19 (D440G +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 375398	NM_001199161.2(USP19):c.1572G>T (p.Glu524Asp)	USP19 (E512D +15 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GPathogenic
Select item 2612591	NM_001199161.2(USP19):c.1522G>A (p.Asp508Asn)	USP19 (D392N +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187219	NM_001199161.2(USP19):c.1513A>G (p.Thr505Ala)	USP19 (T406A +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467634	NM_001199161.2(USP19):c.1498G>A (p.Val500Met)	USP19 (V384M +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715569	NM_001199161.2(USP19):c.1461G>A (p.Pro487=)	USP19	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2329082	NM_001199161.2(USP19):c.1460C>T (p.Pro487Leu)	USP19 (P371L +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187217	NM_001199161.2(USP19):c.1448G>T (p.Gly483Val)	USP19 (G467V +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522038	NM_001199161.2(USP19):c.1447G>A (p.Gly483Ser)	USP19 (G369S +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187216	NM_001199161.2(USP19):c.1325A>T (p.His442Leu)	USP19 (H326L +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745893	NM_001199161.2(USP19):c.1311G>A (p.Pro437=)	USP19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3187215	NM_001199161.2(USP19):c.1310C>T (p.Pro437Leu)	USP19 (P323L +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228276	NM_001199161.2(USP19):c.1306C>T (p.His436Tyr)	USP19 (H421Y +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215153	NM_001199161.2(USP19):c.1210G>A (p.Val404Met)	USP19 (V303M +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327629	NM_001199161.2(USP19):c.1204G>A (p.Val402Met)	USP19 (V303M +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187214	NM_001199161.2(USP19):c.1184C>T (p.Pro395Leu)	USP19 (P279L +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331355	NM_001199161.2(USP19):c.1151C>T (p.Ala384Val)	USP19 (A268V +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 207923	NM_001199161.2(USP19):c.1134G>T (p.Glu378Asp)	USP19 (E378D +11 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 2459271	NM_001199161.2(USP19):c.1100C>T (p.Ala367Val)	USP19 (A266V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409928	NM_001199161.2(USP19):c.1071T>A (p.Asp357Glu)	USP19 (D241E +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298738	NM_001199161.2(USP19):c.1061C>G (p.Pro354Arg)	USP19 (P353R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187213	NM_001199161.2(USP19):c.1042A>G (p.Met348Val)	USP19 (M232V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223129	NM_001199161.2(USP19):c.1034C>T (p.Ser345Phe)	USP19 (S229F +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331362	NM_001199161.2(USP19):c.1018G>A (p.Gly340Arg)	USP19 (G224R +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258167	NM_001199161.2(USP19):c.941C>T (p.Pro314Leu)	USP19 (P264L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405857	NM_001199161.2(USP19):c.901G>A (p.Ala301Thr)	USP19 (A301T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372406	NM_001199161.2(USP19):c.869G>A (p.Arg290Gln)	USP19 (R265Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2616719	NM_001199161.2(USP19):c.844G>A (p.Gly282Arg)	USP19 (G266R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323068	NM_001199161.2(USP19):c.833C>T (p.Pro278Leu)	USP19 (P262L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331366	NM_001199161.2(USP19):c.802G>A (p.Ala268Thr)	USP19 (A253T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517192	NM_001199161.2(USP19):c.740G>A (p.Arg247Gln)	USP19 (R222Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277420	NM_001199161.2(USP19):c.728G>A (p.Arg243Gln)	USP19 (R233Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591163	NM_001199161.2(USP19):c.710G>A (p.Arg237Gln)	USP19 (R221Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331359	NM_001199161.2(USP19):c.709C>T (p.Arg237Trp)	USP19 (R212W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187231	NM_001199161.2(USP19):c.647G>A (p.Arg216Gln)	USP19 (R191Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3187230	NM_001199161.2(USP19):c.586C>G (p.Leu196Val)	USP19 (L181V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2429012	NM_001199161.2(USP19):c.556C>T (p.His186Tyr)	USP19 (H171Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3187229	NM_001199161.2(USP19):c.543G>C (p.Lys181Asn)	USP19 (K181N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405314	NM_001199161.2(USP19):c.539G>A (p.Arg180His)	USP19 (R165H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331357	NM_001199161.2(USP19):c.538C>G (p.Arg180Gly)	USP19 (R165G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341689	NM_001199161.2(USP19):c.528A>T (p.Lys176Asn)	USP19 (K161N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331368	NM_001199161.2(USP19):c.475G>T (p.Gly159Cys)	USP19 (G144C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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