Related gene-specific medical variations for Gene (Select 100128494) - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3202916	NM_006185.4(NUMA1):c.726G>T (p.Lys242Asn)	LOC100128494, LOC126861257 +1 more (K242N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202893	NM_006185.4(NUMA1):c.3098G>A (p.Arg1033Gln)	LOC100128494, NUMA1 (R1033Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202892	NM_006185.4(NUMA1):c.2848G>A (p.Glu950Lys)	LOC100128494, NUMA1 (E950K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202891	NM_006185.4(NUMA1):c.2641C>A (p.Leu881Met)	LOC100128494, NUMA1 (L881M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202890	NM_006185.4(NUMA1):c.2332C>T (p.His778Tyr)	LOC100128494, NUMA1 (H778Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202889	NM_006185.4(NUMA1):c.2254C>G (p.Arg752Gly)	LOC100128494, NUMA1 (R752G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202888	NM_006185.4(NUMA1):c.2041C>T (p.Arg681Trp)	LOC100128494, NUMA1 (R681W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202887	NM_006185.4(NUMA1):c.1898G>A (p.Ser633Asn)	LOC100128494, NUMA1 (S633N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202885	NM_006185.4(NUMA1):c.1633G>C (p.Ala545Pro)	LOC100128494, NUMA1 (A545P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202884	NM_006185.4(NUMA1):c.1622A>G (p.Gln541Arg)	LOC100128494, NUMA1 (Q541R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202883	NM_006185.4(NUMA1):c.1153G>C (p.Gly385Arg)	LOC100128494, NUMA1 (G385R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202881	NM_006185.4(NUMA1):c.1019C>T (p.Ala340Val)	LOC100128494, NUMA1 (A340V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3057307	NM_006185.4(NUMA1):c.1743T>C (p.His581=)	LOC100128494, NUMA1	Single nucleotide variant (non-coding transcript variant +1 more)	NUMA1-related condition	GLikely benign
Select item 3053267	NM_006185.4(NUMA1):c.2932G>A (p.Gly978Ser)	LOC100128494, NUMA1 (G978S)	Single nucleotide variant (non-coding transcript variant +1 more)	NUMA1-related condition	GBenign
Select item 3052407	NM_006185.4(NUMA1):c.1396A>C (p.Ser466Arg)	LOC100128494, NUMA1 (S466R)	Single nucleotide variant (non-coding transcript variant +1 more)	NUMA1-related condition	GLikely benign
Select item 3044820	NM_006185.4(NUMA1):c.1030C>G (p.Leu344Val)	LOC100128494, NUMA1 (L344V)	Single nucleotide variant (non-coding transcript variant +1 more)	NUMA1-related condition	GLikely benign
Select item 3033915	NM_006185.4(NUMA1):c.2484C>T (p.Gly828=)	LOC100128494, NUMA1	Single nucleotide variant (non-coding transcript variant +1 more)	NUMA1-related condition	GLikely benign
Select item 3026150	NM_006185.4(NUMA1):c.1505C>G (p.Ser502Cys)	NUMA1, LOC100128494 (S502C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2642115	NM_006185.4(NUMA1):c.1033A>T (p.Thr345Ser)	LOC100128494, NUMA1 (T345S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2642114	NM_006185.4(NUMA1):c.2427A>T (p.Glu809Asp)	LOC100128494, NUMA1 (E809D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2642113	NM_006185.4(NUMA1):c.2752C>T (p.Arg918Cys)	LOC100128494, NUMA1 (R918C)	Single nucleotide variant (non-coding transcript variant +1 more)	NUMA1-related condition +1 more	GLikely benign
Select item 2642112	NM_006185.4(NUMA1):c.3104A>G (p.Gln1035Arg)	LOC100128494, NUMA1 (Q1035R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2631140	NM_006185.4(NUMA1):c.752T>C (p.Ile251Thr)	LOC100128494, LOC126861257 +1 more (I251T)	Single nucleotide variant (missense variant +1 more)	NUMA1-related condition	GUncertain significance
Select item 2594817	NM_006185.4(NUMA1):c.539G>A (p.Arg180His)	LOC100128494, NUMA1 (R180H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552641	NM_006185.4(NUMA1):c.2903A>G (p.Gln968Arg)	LOC100128494, NUMA1 (Q968R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2546899	NM_006185.4(NUMA1):c.2306C>T (p.Ala769Val)	LOC100128494, NUMA1 (A769V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2536239	NM_006185.4(NUMA1):c.2606G>A (p.Arg869Gln)	LOC100128494, NUMA1 (R869Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2529097	NM_006185.4(NUMA1):c.1781C>T (p.Ala594Val)	LOC100128494, NUMA1 (A594V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2511258	NM_006185.4(NUMA1):c.1891C>T (p.Arg631Trp)	LOC100128494, NUMA1 (R631W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2483717	NM_006185.4(NUMA1):c.2791G>C (p.Glu931Gln)	LOC100128494, NUMA1 (E931Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2482635	NM_006185.4(NUMA1):c.1930G>A (p.Glu644Lys)	LOC100128494, NUMA1 (E644K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2473173	NM_006185.4(NUMA1):c.1483C>T (p.Arg495Trp)	LOC100128494, NUMA1 (R495W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2472181	NM_006185.4(NUMA1):c.2343G>T (p.Glu781Asp)	LOC100128494, NUMA1 (E781D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2470435	NM_006185.4(NUMA1):c.2966T>C (p.Met989Thr)	LOC100128494, NUMA1 (M989T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2409979	NM_006185.4(NUMA1):c.1937C>G (p.Ala646Gly)	LOC100128494, NUMA1 (A646G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2399469	NM_006185.4(NUMA1):c.3097C>T (p.Arg1033Trp)	LOC100128494, NUMA1 (R1033W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2398598	NM_006185.4(NUMA1):c.897C>G (p.Cys299Trp)	LOC100128494, LOC126861257 +1 more (C299W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2389447	NM_006185.4(NUMA1):c.868A>G (p.Met290Val)	LOC100128494, LOC126861257 +1 more (M290V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2387560	NM_006185.4(NUMA1):c.3117C>A (p.Asn1039Lys)	LOC100128494, NUMA1 (N1039K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2387215	NM_006185.4(NUMA1):c.1462G>A (p.Ala488Thr)	LOC100128494, NUMA1 (A488T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2370709	NM_006185.4(NUMA1):c.2402G>A (p.Ser801Asn)	LOC100128494, NUMA1 (S801N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2369278	NM_006185.4(NUMA1):c.1364G>T (p.Gly455Val)	LOC100128494, NUMA1 (G455V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2363576	NM_006185.4(NUMA1):c.1927C>T (p.Arg643Trp)	LOC100128494, NUMA1 (R643W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2359781	NM_006185.4(NUMA1):c.1894G>A (p.Asp632Asn)	LOC100128494, NUMA1 (D632N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2356977	NM_006185.4(NUMA1):c.1389G>C (p.Gln463His)	LOC100128494, NUMA1 (Q463H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2349866	NM_006185.4(NUMA1):c.1426T>C (p.Ser476Pro)	LOC100128494, NUMA1 (S476P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2345266	NM_006185.4(NUMA1):c.790C>G (p.Leu264Val)	LOC100128494, LOC126861257 +1 more (L264V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344129	NM_006185.4(NUMA1):c.2168G>A (p.Arg723His)	LOC100128494, NUMA1 (R723H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2343596	NM_006185.4(NUMA1):c.1712C>T (p.Ala571Val)	LOC100128494, NUMA1 (A571V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2337717	NM_006185.4(NUMA1):c.2449T>C (p.Tyr817His)	LOC100128494, NUMA1 (Y817H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2319612	NM_006185.4(NUMA1):c.1025A>G (p.Asn342Ser)	LOC100128494, NUMA1 (N342S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2317498	NM_006185.4(NUMA1):c.2435C>G (p.Ala812Gly)	LOC100128494, NUMA1 (A812G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2299555	NM_006185.4(NUMA1):c.480T>G (p.Cys160Trp)	LOC100128494, NUMA1 (C160W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292191	NM_006185.4(NUMA1):c.2948G>A (p.Arg983Gln)	LOC100128494, NUMA1 (R983Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2289507	NM_006185.4(NUMA1):c.1868A>G (p.Gln623Arg)	LOC100128494, NUMA1 (Q623R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2271918	NM_006185.4(NUMA1):c.2354T>G (p.Leu785Arg)	LOC100128494, NUMA1 (L785R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2263151	NM_006185.4(NUMA1):c.1744G>A (p.Ala582Thr)	LOC100128494, NUMA1 (A582T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2260414	NM_006185.4(NUMA1):c.1856T>C (p.Ile619Thr)	LOC100128494, NUMA1 (I619T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2239187	NM_006185.4(NUMA1):c.806C>T (p.Ala269Val)	LOC100128494, LOC126861257 +1 more (A269V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232000	NM_006185.4(NUMA1):c.2029G>C (p.Glu677Gln)	NUMA1, LOC100128494 (E677Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2210512	NM_006185.4(NUMA1):c.3170C>T (p.Thr1057Met)	LOC100128494, NUMA1 (T1057M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2210000	NM_006185.4(NUMA1):c.1652A>G (p.His551Arg)	LOC100128494, NUMA1 (H551R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1049052	NM_006185.4(NUMA1):c.584A>G (p.Asn195Ser)	LOC100128494, NUMA1 (N195S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 790647	NM_006185.4(NUMA1):c.2937T>C (p.Asn979=)	LOC100128494, NUMA1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 778043	NM_006185.4(NUMA1):c.2915G>A (p.Arg972Gln)	LOC100128494, NUMA1 (R972Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 721427	NM_006185.4(NUMA1):c.2178A>G (p.Ala726=)	LOC100128494, NUMA1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 716672	NM_006185.4(NUMA1):c.981G>A (p.Leu327=)	LOC100128494, NUMA1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 715512	NM_006185.4(NUMA1):c.3152C>T (p.Ala1051Val)	LOC100128494, NUMA1 (A1051V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 711556	NM_006185.4(NUMA1):c.725A>G (p.Lys242Arg)	LOC100128494, LOC126861257 +1 more (K242R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 711555	NM_006185.4(NUMA1):c.1328G>A (p.Arg443Gln)	LOC100128494, NUMA1 (R443Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 711463	NM_006185.4(NUMA1):c.1430A>G (p.Asn477Ser)	LOC100128494, NUMA1 (N477S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign

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Items: 71