"Ambry Genetics"[submitter] AND "CADPS2"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 122

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262933	NM_017954.11(CADPS2):c.3680A>G (p.His1227Arg)	CADPS2 (H1191R +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382204	NM_017954.11(CADPS2):c.3548G>A (p.Arg1183Gln)	CADPS2 (R1144Q +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262938	NM_017954.11(CADPS2):c.3539T>C (p.Met1180Thr)	CADPS2 (M1140T +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136616	NM_017954.11(CADPS2):c.3529A>T (p.Thr1177Ser)	CADPS2 (T1134S +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535101	NM_017954.11(CADPS2):c.3499G>A (p.Val1167Ile)	CADPS2 (V1134I +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136615	NM_017954.11(CADPS2):c.3457A>C (p.Ile1153Leu)	CADPS2 (I1113L +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377088	NM_017954.11(CADPS2):c.3433G>A (p.Asp1145Asn)	CADPS2 (D1112N +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522126	NM_017954.11(CADPS2):c.3322C>T (p.His1108Tyr)	CADPS2 (H1065Y +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481411	NM_017954.11(CADPS2):c.3298G>C (p.Asp1100His)	CADPS2 (D1054H +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473371	NM_017954.11(CADPS2):c.3112G>C (p.Glu1038Gln)	CADPS2 (E1002Q +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569266	NM_017954.11(CADPS2):c.3051T>A (p.Asp1017Glu)	CADPS2 (D1024E +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394295	NM_017954.11(CADPS2):c.2981C>T (p.Ser994Leu)	CADPS2 (S1001L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465823	NM_017954.11(CADPS2):c.2975C>A (p.Thr992Asn)	CADPS2 (T992N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481163	NM_017954.11(CADPS2):c.2871G>T (p.Glu957Asp)	CADPS2 (E954D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283534	NM_017954.11(CADPS2):c.2839G>A (p.Ala947Thr)	CADPS2 (A941T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518173	NM_017954.11(CADPS2):c.2794G>A (p.Val932Ile)	CADPS2 (V778I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454989	NM_017954.11(CADPS2):c.2774A>G (p.Lys925Arg)	CADPS2 (K771R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262934	NM_017954.11(CADPS2):c.2708C>G (p.Pro903Arg)	CADPS2 (P897R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136614	NM_017954.11(CADPS2):c.2662G>T (p.Asp888Tyr)	CADPS2 (D885Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367249	NM_017954.11(CADPS2):c.2609A>G (p.Asp870Gly)	CADPS2 (D716G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205998	NM_017954.11(CADPS2):c.2575G>A (p.Ala859Thr)	CADPS2 (A705T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528036	NM_017954.11(CADPS2):c.2503A>G (p.Arg835Gly)	CADPS2 (R681G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476937	NM_017954.11(CADPS2):c.2458G>A (p.Glu820Lys)	CADPS2 (E817K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615293	NM_017954.11(CADPS2):c.2455A>G (p.Thr819Ala)	CADPS2 (T658A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136613	NM_017954.11(CADPS2):c.2381T>C (p.Ile794Thr)	CADPS2 (I633T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230182	NM_017954.11(CADPS2):c.2369T>C (p.Ile790Thr)	CADPS2 (I787T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247772	NM_017954.11(CADPS2):c.2320G>C (p.Ala774Pro)	CADPS2 (A613P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136611	NM_017954.11(CADPS2):c.2237A>G (p.Glu746Gly)	CADPS2 (E585G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209624	NM_017954.11(CADPS2):c.2228G>A (p.Arg743Lys)	CADPS2 (R743K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481278	NM_017954.11(CADPS2):c.2122G>C (p.Val708Leu)	CADPS2 (V705L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299719	NM_017954.11(CADPS2):c.2005T>C (p.Phe669Leu)	CADPS2 (F508L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325015	NM_017954.11(CADPS2):c.2004G>C (p.Trp668Cys)	CADPS2 (W507C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289251	NM_017954.11(CADPS2):c.1991C>A (p.Ser664Tyr)	CADPS2 (S664Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282223	NM_017954.11(CADPS2):c.1920G>T (p.Lys640Asn)	CADPS2 (K637N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402622	NM_017954.11(CADPS2):c.1910A>C (p.Asn637Thr)	CADPS2 (N637T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136610	NM_017954.11(CADPS2):c.1897T>C (p.Phe633Leu)	CADPS2 (F472L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409058	NM_017954.11(CADPS2):c.1871G>A (p.Arg624His)	CADPS2 (R621H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262929	NM_017954.11(CADPS2):c.1786G>T (p.Val596Phe)	CADPS2 (V435F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588161	NM_017954.11(CADPS2):c.1778A>G (p.Tyr593Cys)	CADPS2 (Y432C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330716	NM_017954.11(CADPS2):c.1675T>A (p.Phe559Ile)	CADPS2 (F559I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492664	NM_017954.11(CADPS2):c.1660G>T (p.Gly554Cys)	CADPS2 (G554C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359997	NM_017954.11(CADPS2):c.1639G>A (p.Asp547Asn)	CADPS2 (D547N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485584	NM_017954.11(CADPS2):c.1566G>A (p.Met522Ile)	CADPS2 (M522I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136608	NM_017954.11(CADPS2):c.1555A>G (p.Thr519Ala)	CADPS2 (T519A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136607	NM_017954.11(CADPS2):c.1436C>A (p.Ala479Glu)	CADPS2 (A318E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136606	NM_017954.11(CADPS2):c.1385G>A (p.Arg462Gln)	CADPS2 (R301Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2290793	NM_017954.11(CADPS2):c.1108G>A (p.Val370Ile)	CADPS2 (V370I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324244	NM_017954.11(CADPS2):c.1081G>T (p.Val361Leu)	CADPS2 (V200L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136617	NM_017954.11(CADPS2):c.977C>G (p.Ser326Trp)	CADPS2 (S165W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262931	NM_017954.11(CADPS2):c.838C>T (p.Arg280Trp)	CADPS2 (R119W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342086	NM_017954.11(CADPS2):c.796G>A (p.Ala266Thr)	CADPS2 (A105T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260217	NM_017954.11(CADPS2):c.765G>C (p.Gln255His)	CADPS2 (Q94H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490047	NM_017954.11(CADPS2):c.751A>C (p.Lys251Gln)	CADPS2 (K251Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402349	NM_017954.11(CADPS2):c.743G>A (p.Gly248Asp)	CADPS2 (G248D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262930	NM_017954.11(CADPS2):c.694C>G (p.Leu232Val)	CADPS2 (L71V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262937	NM_017954.11(CADPS2):c.646G>T (p.Asp216Tyr)	CADPS2 (D216Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262932	NM_017954.11(CADPS2):c.559A>G (p.Ser187Gly)	CADPS2 (S26G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516026	NM_017954.11(CADPS2):c.487G>A (p.Val163Ile)	CADPS2 (V163I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262936	NM_017954.11(CADPS2):c.484A>C (p.Met162Leu)	CADPS2 (M1L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155027	NM_139175.2(RNF133):c.1030G>A (p.Gly344Arg)	CADPS2, RNF133 (G344R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2528702	NM_139175.2(RNF133):c.973C>G (p.Leu325Val)	CADPS2, RNF133 (L325V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275660	NM_139175.2(RNF133):c.940A>G (p.Thr314Ala)	CADPS2, RNF133 (T314A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516938	NM_139175.2(RNF133):c.802A>G (p.Ile268Val)	CADPS2, RNF133 (I268V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314727	NM_139175.2(RNF133):c.777C>G (p.Cys259Trp)	CADPS2, RNF133 (C259W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314728	NM_139175.2(RNF133):c.745A>G (p.Ile249Val)	CADPS2, RNF133 (I249V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3155031	NM_139175.2(RNF133):c.691C>G (p.Gln231Glu)	CADPS2, RNF133 (Q231E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591121	NM_139175.2(RNF133):c.685G>A (p.Asp229Asn)	CADPS2, RNF133 (D229N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543433	NM_139175.2(RNF133):c.662G>A (p.Arg221Gln)	CADPS2, RNF133 (R221Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155030	NM_139175.2(RNF133):c.569A>G (p.Tyr190Cys)	CADPS2, RNF133 (Y190C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155028	NM_139175.2(RNF133):c.421C>T (p.Pro141Ser)	CADPS2, RNF133 (P141S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228141	NM_139175.2(RNF133):c.386T>C (p.Ile129Thr)	CADPS2, RNF133 (I129T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529813	NM_139175.2(RNF133):c.358A>G (p.Thr120Ala)	CADPS2, RNF133 (T120A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2364067	NM_139175.2(RNF133):c.334T>A (p.Phe112Ile)	CADPS2, RNF133 (F112I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540235	NM_139175.2(RNF133):c.319C>T (p.Arg107Trp)	CADPS2, RNF133 (R107W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247301	NM_139175.2(RNF133):c.286A>G (p.Lys96Glu)	CADPS2, RNF133 (K96E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474578	NM_139175.2(RNF133):c.266A>G (p.Asn89Ser)	CADPS2, RNF133 (N89S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485415	NM_139175.2(RNF133):c.134C>T (p.Ser45Leu)	CADPS2, RNF133 (S45L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289636	NM_139175.2(RNF133):c.121T>C (p.Tyr41His)	CADPS2, RNF133 (Y41H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155032	NM_139175.2(RNF133):c.71T>C (p.Leu24Pro)	CADPS2, RNF133 (L24P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277322	NM_139175.2(RNF133):c.64A>G (p.Ser22Gly)	CADPS2, RNF133 (S22G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283876	NM_139175.2(RNF133):c.56T>G (p.Met19Arg)	CADPS2, RNF133 (M19R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155029	NM_139175.2(RNF133):c.53T>G (p.Leu18Arg)	CADPS2, RNF133 (L18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155091	NM_198085.2(RNF148):c.905T>C (p.Ile302Thr)	CADPS2, RNF148 (I302T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155090	NM_198085.2(RNF148):c.886C>G (p.Pro296Ala)	CADPS2, RNF148 (P296A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621386	NM_198085.2(RNF148):c.858C>A (p.Asp286Glu)	CADPS2, RNF148 (D286E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314755	NM_198085.2(RNF148):c.842A>T (p.His281Leu)	CADPS2, RNF148 (H281L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513048	NM_198085.2(RNF148):c.820T>G (p.Leu274Val)	CADPS2, RNF148 (L274V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520725	NM_198085.2(RNF148):c.814C>T (p.Arg272Cys)	CADPS2, RNF148 (R272C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328270	NM_198085.2(RNF148):c.806A>G (p.Asp269Gly)	CADPS2, RNF148 (D269G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372164	NM_198085.2(RNF148):c.793T>C (p.Tyr265His)	CADPS2, RNF148 (Y265H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155088	NM_198085.2(RNF148):c.773G>C (p.Cys258Ser)	CADPS2, RNF148 (C258S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155087	NM_198085.2(RNF148):c.770A>G (p.Asn257Ser)	CADPS2, RNF148 (N257S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3155086	NM_198085.2(RNF148):c.720A>C (p.Gln240His)	CADPS2, RNF148 (Q240H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263295	NM_198085.2(RNF148):c.674G>A (p.Arg225Gln)	CADPS2, RNF148 (R225Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385999	NM_198085.2(RNF148):c.644C>T (p.Pro215Leu)	CADPS2, RNF148 (P215L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589786	NM_198085.2(RNF148):c.497C>T (p.Ser166Leu)	CADPS2, RNF148 (S166L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2387331	NM_198085.2(RNF148):c.454G>A (p.Ala152Thr)	CADPS2, RNF148 (A152T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221570	NM_198085.2(RNF148):c.449T>C (p.Ile150Thr)	CADPS2, RNF148 (I150T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155084	NM_198085.2(RNF148):c.437G>T (p.Gly146Val)	CADPS2, RNF148 (G146V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252052	NM_198085.2(RNF148):c.404C>T (p.Thr135Met)	CADPS2, RNF148 (T135M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

<< First< Prev

Page of 2