CADPS2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic
Select item 145985	GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1	AASS, ANKRD7 +253 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 148054	GRCh38/hg38 7q31.32(chr7:121461314-122882795)x1	AASS, CADPS2 +12 more	Copy number loss	See cases	GUncertain significance
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	LOC129999653, LOC129999654 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 1283565	NM_017954.11(CADPS2):c.3718-15A>C	CADPS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 793565	NM_017954.11(CADPS2):c.3691C>T (p.Leu1231=)	CADPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 715236	NM_017954.11(CADPS2):c.3262G>A (p.Asp1088Asn)	CADPS2 (D1042N +10 more)	Single nucleotide variant (missense variant)	CADPS2-related disorder +1 more	GLikely benign
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 788645	NM_017954.11(CADPS2):c.3028G>A (p.Glu1010Lys)	CADPS2 (E816K +10 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3067489	NM_017954.11(CADPS2):c.2982G>A (p.Ser994=)	CADPS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 727782	NM_017954.11(CADPS2):c.2878C>G (p.Gln960Glu)	CADPS2 (Q806E +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 714357	NM_017954.11(CADPS2):c.2482A>G (p.Met828Val)	CADPS2 (M825V +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 795194	NM_017954.11(CADPS2):c.2477-4A>G	CADPS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 737193	NM_017954.11(CADPS2):c.2477-10T>C	CADPS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1237243	NM_017954.11(CADPS2):c.2457A>C (p.Thr819=)	CADPS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 788646	NM_017954.11(CADPS2):c.2397G>C (p.Val799=)	CADPS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3044118	NM_017954.11(CADPS2):c.2395G>C (p.Val799Leu)	CADPS2 (V638L +2 more)	Single nucleotide variant (missense variant)	CADPS2-related disorder	GLikely benign
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 730794	NM_017954.11(CADPS2):c.2288+7del	CADPS2	Deletion (intron variant)	not provided	GLikely benign
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 730220	NM_017954.11(CADPS2):c.2178C>T (p.His726=)	CADPS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 735576	NM_017954.11(CADPS2):c.2039A>T (p.Tyr680Phe)	CADPS2 (Y680F +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 741403	NM_017954.11(CADPS2):c.1706T>C (p.Ile569Thr)	CADPS2 (I569T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 799172	NM_017954.11(CADPS2):c.1336-4A>G	CADPS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 59652	GRCh38/hg38 7q31.32(chr7:122563002-123338792)x3	CADPS2, LOC129999213 +10 more	Copy number gain	See cases	GUncertain significance
Select item 709237	NM_017954.11(CADPS2):c.1223+10T>C	CADPS2	Single nucleotide variant (intron variant)	not provided	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 736920	NM_017954.11(CADPS2):c.1077C>T (p.Ser359=)	CADPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716941	NM_017954.11(CADPS2):c.1014A>G (p.Lys338=)	CADPS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 780705	NM_017954.11(CADPS2):c.892G>A (p.Ala298Thr)	CADPS2 (A298T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3040115	NM_017954.11(CADPS2):c.875A>G (p.Lys292Arg)	CADPS2 (K131R +1 more)	Single nucleotide variant (missense variant)	CADPS2-related disorder	GLikely benign
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 59655	GRCh38/hg38 7q31.32(chr7:122651517-123044665)x3	CADPS2, LOC129999213 +8 more	Copy number gain	See cases	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 715005	NM_017954.11(CADPS2):c.627C>T (p.Ala209=)	CADPS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 741365	NM_017954.11(CADPS2):c.606A>G (p.Ser202=)	CADPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 737205	NM_017954.11(CADPS2):c.462A>G (p.Leu154=)	CADPS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 152753	GRCh38/hg38 7q31.32(chr7:122680365-122772439)x1	CADPS2, RNF133 +1 more	Copy number loss	See cases	GUncertain significance
Select item 148238	GRCh38/hg38 7q31.32(chr7:122685810-122731540)x1	CADPS2, RNF133 +1 more	Copy number loss	See cases	GLikely benign
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 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

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