"Ambry Genetics"[submitter] AND "LOC100128494"[gene] - ClinVar

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

Search results

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2210512	NM_006185.4(NUMA1):c.3170C>T (p.Thr1057Met)	NUMA1, LOC100128494 (T1057M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2387560	NM_006185.4(NUMA1):c.3117C>A (p.Asn1039Lys)	NUMA1, LOC100128494 (N1039K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2292191	NM_006185.4(NUMA1):c.2948G>A (p.Arg983Gln)	NUMA1, LOC100128494 (R983Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2337717	NM_006185.4(NUMA1):c.2449T>C (p.Tyr817His)	NUMA1, LOC100128494 (Y817H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2271918	NM_006185.4(NUMA1):c.2354T>G (p.Leu785Arg)	NUMA1, LOC100128494 (L785R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2232000	NM_006185.4(NUMA1):c.2029G>C (p.Glu677Gln)	LOC100128494, NUMA1 (E677Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2359781	NM_006185.4(NUMA1):c.1894G>A (p.Asp632Asn)	NUMA1, LOC100128494 (D632N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2289507	NM_006185.4(NUMA1):c.1868A>G (p.Gln623Arg)	NUMA1, LOC100128494 (Q623R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2343596	NM_006185.4(NUMA1):c.1712C>T (p.Ala571Val)	NUMA1, LOC100128494 (A571V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210000	NM_006185.4(NUMA1):c.1652A>G (p.His551Arg)	NUMA1, LOC100128494 (H551R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2387215	NM_006185.4(NUMA1):c.1462G>A (p.Ala488Thr)	NUMA1, LOC100128494 (A488T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349866	NM_006185.4(NUMA1):c.1426T>C (p.Ser476Pro)	NUMA1, LOC100128494 (S476P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356977	NM_006185.4(NUMA1):c.1389G>C (p.Gln463His)	NUMA1, LOC100128494 (Q463H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369278	NM_006185.4(NUMA1):c.1364G>T (p.Gly455Val)	NUMA1, LOC100128494 (G455V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319612	NM_006185.4(NUMA1):c.1025A>G (p.Asn342Ser)	NUMA1, LOC100128494 (N342S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GLikely benign
Select item 2239187	NM_006185.4(NUMA1):c.806C>T (p.Ala269Val)	LOC100128494, LOC126861257 +1 more (A269V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2594817	NM_006185.4(NUMA1):c.539G>A (p.Arg180His)	LOC100128494, NUMA1 (R180H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299555	NM_006185.4(NUMA1):c.480T>G (p.Cys160Trp)	LOC100128494, NUMA1 (C160W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 39