ClinVar for Gene (Select 202051) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310277	NM_001161546.2(PROB1):c.796C>T (p.Pro266Ser)	PROB1, SPATA24 (P266S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310275	NM_001161546.2(PROB1):c.585G>C (p.Glu195Asp)	LOC129994769, PROB1 +1 more (E195D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310274	NM_001161546.2(PROB1):c.76G>A (p.Asp26Asn)	PROB1, SPATA24 (D26N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310273	NM_001161546.2(PROB1):c.289C>T (p.Arg97Trp)	PROB1, SPATA24 (R97W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310272	NM_001161546.2(PROB1):c.2495A>C (p.Gln832Pro)	LOC129994765, PROB1 +1 more (Q832P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310271	NM_001161546.2(PROB1):c.197G>A (p.Gly66Asp)	PROB1, SPATA24 (G66D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310270	NM_001161546.2(PROB1):c.1426C>A (p.Pro476Thr)	LOC129994768, PROB1 +1 more (P476T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310269	NM_001161546.2(PROB1):c.311G>C (p.Arg104Pro)	PROB1, SPATA24 (R104P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310268	NM_001161546.2(PROB1):c.1311G>C (p.Trp437Cys)	PROB1, SPATA24 (W437C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310267	NM_001161546.2(PROB1):c.2398C>A (p.Arg800Ser)	LOC129994765, PROB1 +1 more (R800S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310266	NM_001161546.2(PROB1):c.2179C>T (p.Pro727Ser)	PROB1, SPATA24 (P727S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246406	NC_000005.9:g.(?_138356840)_(138860503_?)dup	DNAJC18, ECSCR +9 more	Duplication	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 3218989	NM_001161546.2(PROB1):c.887A>C (p.Lys296Thr)	PROB1, SPATA24 (K296T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218988	NM_001161546.2(PROB1):c.71G>T (p.Arg24Leu)	PROB1, SPATA24 (R24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218987	NM_001161546.2(PROB1):c.715G>A (p.Glu239Lys)	LOC129994769, PROB1 +1 more (E239K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218986	NM_001161546.2(PROB1):c.703G>A (p.Gly235Ser)	LOC129994769, PROB1 +1 more (G235S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218985	NM_001161546.2(PROB1):c.487G>A (p.Gly163Ser)	LOC129994769, PROB1 +1 more (G163S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218984	NM_001161546.2(PROB1):c.373G>A (p.Gly125Ser)	PROB1, SPATA24 (G125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218982	NM_001161546.2(PROB1):c.2554C>A (p.Arg852Ser)	LOC129994765, PROB1 +1 more (R852S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218981	NM_001161546.2(PROB1):c.2464C>T (p.Pro822Ser)	LOC129994765, PROB1 +1 more (P822S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218980	NM_001161546.2(PROB1):c.2345C>T (p.Ala782Val)	LOC129994765, PROB1 +1 more (A782V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218979	NM_001161546.2(PROB1):c.2188C>A (p.Arg730Ser)	PROB1, SPATA24 (R730S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218978	NM_001161546.2(PROB1):c.2084A>T (p.Tyr695Phe)	LOC129994766, PROB1 +1 more (Y695F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218977	NM_001161546.2(PROB1):c.1994C>T (p.Thr665Met)	PROB1, SPATA24 (T665M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218976	NM_001161546.2(PROB1):c.1883G>A (p.Arg628His)	PROB1, SPATA24 (R628H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218975	NM_001161546.2(PROB1):c.1882C>G (p.Arg628Gly)	PROB1, SPATA24 (R628G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218974	NM_001161546.2(PROB1):c.1676C>T (p.Pro559Leu)	LOC129994767, PROB1 +1 more (P559L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3218971	NM_001161546.2(PROB1):c.148G>A (p.Ala50Thr)	PROB1, SPATA24 (A50T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218970	NM_001161546.2(PROB1):c.1415C>A (p.Ser472Tyr)	LOC129994768, PROB1 +1 more (S472Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218969	NM_001161546.2(PROB1):c.1316A>G (p.Asn439Ser)	PROB1, SPATA24 (N439S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218968	NM_001161546.2(PROB1):c.1159G>A (p.Ala387Thr)	PROB1, SPATA24 (A387T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655732	NM_001161546.2(PROB1):c.1143G>T (p.Ser381=)	PROB1, SPATA24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620762	NM_001161546.2(PROB1):c.477G>C (p.Gln159His)	LOC129994769, PROB1 +1 more (Q159H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618871	NM_001161546.2(PROB1):c.521G>A (p.Arg174Gln)	LOC129994769, PROB1 +1 more (R174Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616385	NM_001161546.2(PROB1):c.406A>G (p.Thr136Ala)	PROB1, SPATA24 (T136A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600639	NM_001161546.2(PROB1):c.376G>A (p.Ala126Thr)	PROB1, SPATA24 (A126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569943	NM_001161546.2(PROB1):c.2333C>T (p.Pro778Leu)	LOC129994765, PROB1 +1 more (P778L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546387	NM_001161546.2(PROB1):c.1061G>C (p.Arg354Pro)	PROB1, SPATA24 (R354P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538747	NM_001161546.2(PROB1):c.1151C>T (p.Pro384Leu)	PROB1, SPATA24 (P384L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509725	NM_001161546.2(PROB1):c.2198T>C (p.Ile733Thr)	PROB1, SPATA24 (I733T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509658	NM_001161546.2(PROB1):c.1283C>T (p.Pro428Leu)	PROB1, SPATA24 (P428L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493372	NM_001161546.2(PROB1):c.643C>T (p.Arg215Trp)	LOC129994769, PROB1 +1 more (R215W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484222	NM_001161546.2(PROB1):c.2384G>C (p.Gly795Ala)	LOC129994765, PROB1 +1 more (G795A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483398	NM_001161546.2(PROB1):c.1940G>A (p.Gly647Glu)	PROB1, SPATA24 (G647E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481726	NM_001161546.2(PROB1):c.1679C>T (p.Thr560Ile)	LOC129994767, PROB1 +1 more (T560I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480389	NM_001161546.2(PROB1):c.1346G>A (p.Ser449Asn)	PROB1, SPATA24 (S449N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473768	NM_001161546.2(PROB1):c.2156G>A (p.Arg719Lys)	PROB1, SPATA24 (R719K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468227	NM_001161546.2(PROB1):c.836C>A (p.Pro279His)	PROB1, SPATA24 (P279H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427648	NC_000005.9:g.(?_136957787)_(138861289_?)del	BRD8, CDC23 +29 more	Deletion	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2424306	NC_000005.9:g.(?_138266142)_(138861289_?)dup	CTNNA1, DNAJC18 +10 more	Duplication	not provided	GUncertain significance
Select item 2411450	NM_001161546.2(PROB1):c.581A>T (p.Glu194Val)	LOC129994769, PROB1 +1 more (E194V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403882	NM_001161546.2(PROB1):c.2066C>A (p.Pro689Gln)	PROB1, SPATA24 (P689Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388063	NM_001161546.2(PROB1):c.827G>A (p.Arg276Gln)	PROB1, SPATA24 (R276Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385980	NM_001161546.2(PROB1):c.2422G>A (p.Ala808Thr)	LOC129994765, PROB1 +1 more (A808T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383256	NM_001161546.2(PROB1):c.1399G>A (p.Gly467Arg)	LOC129994768, PROB1 +1 more (G467R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2381142	NM_001161546.2(PROB1):c.583G>A (p.Glu195Lys)	LOC129994769, PROB1 +1 more (E195K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380608	NM_001161546.2(PROB1):c.2371G>T (p.Val791Leu)	LOC129994765, PROB1 +1 more (V791L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378744	NM_001161546.2(PROB1):c.1022G>T (p.Ser341Ile)	PROB1, SPATA24 (S341I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376936	NM_001161546.2(PROB1):c.665C>T (p.Ala222Val)	LOC129994769, PROB1 +1 more (A222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375756	NM_001161546.2(PROB1):c.2341G>A (p.Gly781Ser)	LOC129994765, PROB1 +1 more (G781S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373748	NM_001161546.2(PROB1):c.2080C>T (p.Pro694Ser)	PROB1, SPATA24 (P694S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351124	NM_001161546.2(PROB1):c.200C>T (p.Ala67Val)	PROB1, SPATA24 (A67V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334728	NM_001161546.2(PROB1):c.1217G>T (p.Gly406Val)	PROB1, SPATA24 (G406V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334321	NM_001161546.2(PROB1):c.353G>A (p.Gly118Glu)	PROB1, SPATA24 (G118E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333193	NM_001161546.2(PROB1):c.466C>G (p.Arg156Gly)	LOC129994769, PROB1 +1 more (R156G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328129	NM_001161546.2(PROB1):c.1649C>T (p.Thr550Ile)	LOC129994767, PROB1 +1 more (T550I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309235	NM_001161546.2(PROB1):c.152A>G (p.Lys51Arg)	PROB1, SPATA24 (K51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309052	NM_001161546.2(PROB1):c.352G>A (p.Gly118Arg)	PROB1, SPATA24 (G118R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300528	NM_001161546.2(PROB1):c.1751T>C (p.Val584Ala)	LOC129994767, PROB1 +1 more (V584A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290944	NM_001161546.2(PROB1):c.961C>G (p.Arg321Gly)	PROB1, SPATA24 (R321G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285405	NM_001161546.2(PROB1):c.644G>A (p.Arg215Gln)	LOC129994769, PROB1 +1 more (R215Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284315	NM_001161546.2(PROB1):c.47A>G (p.Gln16Arg)	PROB1, SPATA24 (Q16R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2269240	NM_001161546.2(PROB1):c.919G>A (p.Ala307Thr)	PROB1, SPATA24 (A307T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261294	NM_194296.2(SPATA24):c.268G>A (p.Val90Met)	SPATA24 (V90M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261090	NM_001161546.2(PROB1):c.2021C>T (p.Pro674Leu)	PROB1, SPATA24 (P674L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253653	NM_001161546.2(PROB1):c.29T>C (p.Leu10Pro)	PROB1, SPATA24 (L10P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241576	NM_194296.2(SPATA24):c.129G>C (p.Gln43His)	SPATA24 (Q43H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226747	NM_001161546.2(PROB1):c.1678A>G (p.Thr560Ala)	LOC129994767, PROB1 +1 more (T560A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2212181	NM_001161546.2(PROB1):c.290G>T (p.Arg97Leu)	PROB1, SPATA24 (R97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809220	GRCh37/hg19 5q31.2(chr5:137893096-138868605)x3	CTNNA1, DNAJC18 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1340844	GRCh37/hg19 5q31.2(chr5:138675227-139314012)x1	CXXC5, DNAJC18 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1340692	GRCh37/hg19 5q31.2(chr5:138386858-138935115)x3	DNAJC18, ECSCR +9 more	Copy number gain	not provided	GUncertain significance
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	PCDHB13, PCDHB14 +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 988915	GRCh37/hg19 5q31.2(chr5:137754277-138994590)x1	CTNNA1, DNAJC18 +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 980740	GRCh37/hg19 5q31.2(chr5:138351402-138893343)x3	DNAJC18, ECSCR +9 more	Copy number gain	not provided	GUncertain significance
Select item 980739	GRCh37/hg19 5q31.2(chr5:138101724-138876953)x3	CTNNA1, DNAJC18 +11 more	Copy number gain	not provided	GUncertain significance
Select item 790451	NM_001161546.2(PROB1):c.32C>T (p.Pro11Leu)	PROB1, SPATA24 (P11L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 789286	NM_001161546.2(PROB1):c.780C>G (p.Ser260Arg)	PROB1, SPATA24 (S260R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785141	NM_001161546.2(PROB1):c.127C>G (p.Pro43Ala)	PROB1, SPATA24 (P43A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785140	NM_001161546.2(PROB1):c.1507C>A (p.Pro503Thr)	LOC129994768, PROB1 +1 more (P503T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775224	NM_001161546.2(PROB1):c.1475C>G (p.Pro492Arg)	LOC129994768, PROB1 +1 more (P492R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 734807	NM_001161546.2(PROB1):c.2003C>T (p.Pro668Leu)	PROB1, SPATA24 (P668L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 712577	NM_001161546.2(PROB1):c.2364C>T (p.Arg788=)	LOC129994765, PROB1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709228	NM_001161546.2(PROB1):c.1517C>T (p.Ala506Val)	LOC129994768, PROB1 +1 more (A506V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685436	GRCh37/hg19 5q31.2(chr5:137865800-139097368)x1	CTNNA1, CXXC5 +15 more	Copy number loss	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563110	GRCh37/hg19 5q31.2(chr5:138390162-139160907)x3	CXXC5, DNAJC18 +11 more	Copy number gain	not provided	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCNI2, FAM13B +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic

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