Related gene-specific medical variations for Gene (Select 57654) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269532	NC_000004.12:g.1394701C>T	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269530	NC_000004.12:g.1395524G>A	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269529	NC_000004.12:g.1395605A>T	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269528	NC_000004.12:g.1395275G>A	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269527	NC_000004.12:g.1395389C>T	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269526	NC_000004.12:g.1395769G>A	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269525	NC_000004.12:g.1395011C>T	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269524	NC_000004.12:g.1395659C>T	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269523	NC_000004.12:g.1394525C>T	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269522	NC_000004.12:g.1395392G>A	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269521	NC_000004.12:g.1394794C>T	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269520	NC_000004.12:g.1395431G>A	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269519	NC_000004.12:g.1395260G>A	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3269518	NC_000004.12:g.1395488A>G	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (genic downstream transcript variant)	not specified	GUncertain significance
Select item 3250504	NM_175918.3(CRIPAK):c.1329C>T (p.Leu443=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3077477	NC_000004.12:g.1395470C>T	CRIPAK, LOC126806945 +1 more (P320L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077475	NC_000004.12:g.1394600T>C	CRIPAK, LOC126806945 +1 more (V30A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077474	NC_000004.12:g.1395309G>A	CRIPAK, LOC126806945 +1 more (M266I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077473	NC_000004.12:g.1395203C>T	CRIPAK, LOC126806945 +1 more (A231V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077472	NC_000004.12:g.1395124T>C	CRIPAK, LOC126806945 +1 more (C205R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077471	NC_000004.12:g.1394561C>T	CRIPAK, LOC126806945 +1 more (T17M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077470	NC_000004.12:g.1394953T>C	CRIPAK, LOC126806945 +1 more (C148R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077469	NC_000004.12:g.1394944G>C	CRIPAK, LOC126806945 +1 more (V145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077468	NC_000004.12:g.1394929A>G	CRIPAK, LOC126806945 +1 more (T140A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077467	NC_000004.12:g.1394918C>T	CRIPAK, LOC126806945 +1 more (P136L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077465	NC_000004.12:g.1394873C>T	CRIPAK, LOC126806945 +1 more (P121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077464	NC_000004.12:g.1394776T>G	CRIPAK, LOC126806945 +1 more (C89G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077463	NC_000004.12:g.1394704C>T	CRIPAK, LOC126806945 +1 more (P65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077462	NC_000004.12:g.1394671C>T	CRIPAK, LOC126806945 +1 more (R54C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077461	NC_000004.12:g.1395745C>G	CRIPAK, LOC126806945 +1 more (P412A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077460	NC_000004.12:g.1394627G>C	CRIPAK, LOC126806945 +1 more (R39P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077459	NC_000004.12:g.1395535G>A	CRIPAK, LOC126806945 +1 more (A342T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077458	NC_000004.12:g.1395512A>C	CRIPAK, LOC126806945 +1 more (H334P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025467	NM_175918.3(CRIPAK):c.789C>T (p.His263=)	CRIPAK, UVSSA +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024900	NM_175918.3(CRIPAK):c.519A>T (p.Pro173=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024899	NM_175918.3(CRIPAK):c.518C>A (p.Pro173Gln)	CRIPAK, LOC126806945 +1 more (P173Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654576	NM_175918.3(CRIPAK):c.1041C>G (p.Pro347=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654575	NM_175918.3(CRIPAK):c.900G>A (p.Pro300=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654574	NM_175918.3(CRIPAK):c.826T>C (p.Cys276Arg)	CRIPAK, LOC126806945 +1 more (C276R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654573	NM_175918.3(CRIPAK):c.642C>G (p.Pro214=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654572	NM_175918.3(CRIPAK):c.642C>A (p.Pro214=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654571	NM_175918.3(CRIPAK):c.624T>G (p.Pro208=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654570	NM_175918.3(CRIPAK):c.552G>A (p.Thr184=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654569	NM_175918.3(CRIPAK):c.549_579del31 (p.Thr184Metfs)	CRIPAK, LOC126806945 +1 more	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2654568	NM_175918.3(CRIPAK):c.522T>C (p.Cys174=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654567	NM_175918.3(CRIPAK):c.518_672del155 (p.Pro173Argfs)	CRIPAK, LOC126806945 +1 more	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2654566	NM_175918.3(CRIPAK):c.439G>A (p.Ala147Thr)	CRIPAK, LOC126806945 +1 more (A147T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654565	NM_175918.3(CRIPAK):c.420G>A (p.Thr140=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654564	NM_175918.3(CRIPAK):c.327G>A (p.Thr109=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654563	NM_175918.3(CRIPAK):c.240C>G (p.Pro80=)	CRIPAK, LOC126806945 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654562	NM_175918.3(CRIPAK):c.115C>T (p.Arg39Ter)	CRIPAK, LOC126806945 +1 more (R39*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2618457	NC_000004.12:g.1395521G>T	CRIPAK, LOC126806945 +1 more (R337L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613526	NC_000004.12:g.1394882G>A	CRIPAK, LOC126806945 +1 more (S124N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610855	NC_000004.12:g.1395491G>A	CRIPAK, LOC126806945 +1 more (C327Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599539	NC_000004.12:g.1395354C>G	CRIPAK, LOC126806945 +1 more (C281W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589601	NC_000004.12:g.1394632G>A	CRIPAK, LOC126806945 +1 more (G41R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570512	NC_000004.12:g.1395253A>G	CRIPAK, LOC126806945 +1 more (S248G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570021	NC_000004.12:g.1395728G>A	CRIPAK, LOC126806945 +1 more (C406Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561471	NC_000004.12:g.1395217T>C	CRIPAK, LOC126806945 +1 more (C236R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2553282	NC_000004.12:g.1395673A>G	CRIPAK, LOC126806945 +1 more (T388A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2551225	NC_000004.12:g.1395536C>T	CRIPAK, LOC126806945 +1 more (A342V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546845	NC_000004.12:g.1395518G>A	CRIPAK, LOC126806945 +1 more (C336Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520413	NC_000004.12:g.1394845T>C	CRIPAK, LOC126806945 +1 more (C112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514536	NC_000004.12:g.1394782G>A	CRIPAK, LOC126806945 +1 more (D91N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512912	NC_000004.12:g.1394887C>T	CRIPAK, LOC126806945 +1 more (R126C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488944	NC_000004.12:g.1395677G>A	CRIPAK, LOC126806945 +1 more (C389Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480439	NC_000004.12:g.1395447C>G	CRIPAK, LOC126806945 +1 more (C312W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473597	NC_000004.12:g.1394765A>G	CRIPAK, LOC126806945 +1 more (H85R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471979	NC_000004.12:g.1395082A>T	CRIPAK, LOC126806945 +1 more (T191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471059	NC_000004.12:g.1395335G>T	CRIPAK, LOC126806945 +1 more (R275L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467803	NC_000004.12:g.1395001G>A	CRIPAK, LOC126806945 +1 more (V164M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464121	NC_000004.12:g.1394609C>T	CRIPAK, LOC126806945 +1 more (P33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459192	NC_000004.12:g.1395451C>T	CRIPAK, LOC126806945 +1 more (R314C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458458	NC_000004.12:g.1395610C>T	CRIPAK, LOC126806945 +1 more (R367C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457342	NC_000004.12:g.1394782G>C	CRIPAK, LOC126806945 +1 more (D91H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455641	NC_000004.12:g.1395428G>A	CRIPAK, LOC126806945 +1 more (R306Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381118	NC_000004.12:g.1395391C>T	CRIPAK, LOC126806945 +1 more (R294C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379587	NC_000004.12:g.1395848C>T	CRIPAK, LOC126806945 +1 more (T446M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375315	NC_000004.12:g.1394776T>C	CRIPAK, LOC126806945 +1 more (C89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370950	NC_000004.12:g.1394740G>A	CRIPAK, LOC126806945 +1 more (A77T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366573	NC_000004.12:g.1395122G>A	CRIPAK, LOC126806945 +1 more (R204Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2361775	NC_000004.12:g.1395197C>T	CRIPAK, LOC126806945 +1 more (P229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357323	NC_000004.12:g.1394888G>A	CRIPAK, LOC126806945 +1 more (R126H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353550	NC_000004.12:g.1394672G>A	CRIPAK, LOC126806945 +1 more (R54H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345704	NC_000004.12:g.1395746C>T	CRIPAK, LOC126806945 +1 more (P412L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2344865	NC_000004.12:g.1395055G>A	CRIPAK, LOC126806945 +1 more (V182M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2342004	NC_000004.12:g.1394992C>T	CRIPAK, LOC126806945 +1 more (R161C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337453	NC_000004.12:g.1395110C>A	CRIPAK, LOC126806945 +1 more (A200D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325784	NC_000004.12:g.1394717G>A	CRIPAK, LOC126806945 +1 more (R69H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308977	NC_000004.12:g.1395577C>T	CRIPAK, LOC126806945 +1 more (R356C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301523	NC_000004.12:g.1395405G>C	CRIPAK, LOC126806945 +1 more (E298D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294930	NC_000004.12:g.1395629C>T	CRIPAK, LOC126806945 +1 more (P373L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289740	NC_000004.12:g.1395122G>C	CRIPAK, LOC126806945 +1 more (R204P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2284616	NC_000004.12:g.1394935C>A	CRIPAK, LOC126806945 +1 more (P142T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251624	NC_000004.12:g.1395502G>A	CRIPAK, LOC126806945 +1 more (A331T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231351	NC_000004.12:g.1395017C>A	CRIPAK, LOC126806945 +1 more (A169D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223053	NC_000004.12:g.1395350C>T	CRIPAK, LOC126806945 +1 more (A280V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219214	NC_000004.12:g.1395320G>A	CRIPAK, LOC126806945 +1 more (R270H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214928	NC_000004.12:g.1395596C>T	CRIPAK, LOC126806945 +1 more (P362L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207581	NC_000004.12:g.1395091C>G	CRIPAK, LOC126806945 +1 more (H194D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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