"Ambry Genetics"[submitter] AND "SRRM2"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 214

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2611971	NM_016333.4(SRRM2):c.76G>C (p.Val26Leu)	SRRM2 (V26L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374852	NM_016333.4(SRRM2):c.79C>T (p.Arg27Trp)	SRRM2 (R27W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317369	NM_016333.4(SRRM2):c.79C>G (p.Arg27Gly)	SRRM2 (R27G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268772	NM_016333.4(SRRM2):c.86G>T (p.Arg29Leu)	SRRM2 (R29L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608901	NM_016333.4(SRRM2):c.163C>G (p.Pro55Ala)	SRRM2 (P55A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603348	NM_016333.4(SRRM2):c.196G>A (p.Val66Ile)	SRRM2 (V66I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245883	NM_016333.4(SRRM2):c.317G>A (p.Gly106Glu)	LOC126862261, SRRM2 (G106E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222294	NM_016333.4(SRRM2):c.436G>A (p.Val146Ile)	LOC126862261, SRRM2 (V146I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308519	NM_016333.4(SRRM2):c.449C>T (p.Ser150Phe)	LOC126862261, SRRM2 (S150F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273475	NM_016333.4(SRRM2):c.499C>G (p.Pro167Ala)	LOC126862261, SRRM2 (P167A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357999	NM_016333.4(SRRM2):c.649A>C (p.Lys217Gln)	SRRM2 (K217Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411772	NM_016333.4(SRRM2):c.772C>T (p.Arg258Cys)	SRRM2 (R258C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247853	NM_016333.4(SRRM2):c.817G>A (p.Asp273Asn)	SRRM2 (D273N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206443	NM_016333.4(SRRM2):c.863C>T (p.Thr288Ile)	SRRM2 (T288I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555020	NM_016333.4(SRRM2):c.902G>A (p.Gly301Glu)	SRRM2 (G301E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531461	NM_016333.4(SRRM2):c.923C>T (p.Ala308Val)	SRRM2 (A308V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516314	NM_016333.4(SRRM2):c.926C>T (p.Pro309Leu)	SRRM2 (P309L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535019	NM_016333.4(SRRM2):c.952A>G (p.Thr318Ala)	SRRM2 (T318A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277639	NM_016333.4(SRRM2):c.992C>T (p.Pro331Leu)	SRRM2 (P331L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475088	NM_016333.4(SRRM2):c.1051A>G (p.Ser351Gly)	SRRM2 (S351G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343407	NM_016333.4(SRRM2):c.1060C>G (p.Pro354Ala)	SRRM2 (P354A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247757	NM_016333.4(SRRM2):c.1075A>G (p.Thr359Ala)	SRRM2 (T359A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309168	NM_016333.4(SRRM2):c.1108C>G (p.Leu370Val)	SRRM2 (L370V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264521	NM_016333.4(SRRM2):c.1118G>A (p.Arg373Gln)	SRRM2 (R373Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2262489	NM_016333.4(SRRM2):c.1171G>A (p.Val391Met)	SRRM2 (V391M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284836	NM_016333.4(SRRM2):c.1189G>A (p.Ala397Thr)	SRRM2 (A397T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295460	NM_016333.4(SRRM2):c.1190C>T (p.Ala397Val)	SRRM2 (A397V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319675	NM_016333.4(SRRM2):c.1214C>T (p.Pro405Leu)	SRRM2 (P405L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230313	NM_016333.4(SRRM2):c.1241A>G (p.Gln414Arg)	SRRM2 (Q414R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222863	NM_016333.4(SRRM2):c.1242G>T (p.Gln414His)	SRRM2 (Q414H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510680	NM_016333.4(SRRM2):c.1436G>A (p.Arg479His)	SRRM2 (R479H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591963	NM_016333.4(SRRM2):c.1541G>A (p.Arg514His)	SRRM2 (R514H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377703	NM_016333.4(SRRM2):c.1715G>A (p.Arg572Lys)	SRRM2 (R572K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461167	NM_016333.4(SRRM2):c.1721G>A (p.Arg574His)	SRRM2 (R574H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526128	NM_016333.4(SRRM2):c.1739G>A (p.Arg580His)	SRRM2 (R580H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223617	NM_016333.4(SRRM2):c.1774C>T (p.Arg592Trp)	SRRM2 (R592W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205435	NM_016333.4(SRRM2):c.1784G>A (p.Arg595Gln)	SRRM2 (R595Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395559	NM_016333.4(SRRM2):c.1795C>T (p.Pro599Ser)	SRRM2 (P599S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459436	NM_016333.4(SRRM2):c.1796C>T (p.Pro599Leu)	SRRM2 (P599L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614014	NM_016333.4(SRRM2):c.1832G>A (p.Arg611Gln)	SRRM2 (R611Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524068	NM_016333.4(SRRM2):c.1846C>T (p.Arg616Trp)	SRRM2 (R616W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466919	NM_016333.4(SRRM2):c.1868G>A (p.Arg623His)	SRRM2 (R623H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290596	NM_016333.4(SRRM2):c.1883G>A (p.Arg628Gln)	SRRM2 (R628Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592913	NM_016333.4(SRRM2):c.1934G>A (p.Gly645Asp)	SRRM2 (G645D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395366	NM_016333.4(SRRM2):c.1942C>T (p.Arg648Cys)	SRRM2 (R648C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267496	NM_016333.4(SRRM2):c.1996C>T (p.Arg666Cys)	SRRM2 (R666C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609295	NM_016333.4(SRRM2):c.2002C>T (p.Arg668Cys)	SRRM2 (R668C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330190	NM_016333.4(SRRM2):c.2012C>T (p.Ser671Phe)	SRRM2 (S671F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293422	NM_016333.4(SRRM2):c.2029C>T (p.Arg677Cys)	SRRM2 (R677C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271478	NM_016333.4(SRRM2):c.2038C>T (p.Arg680Cys)	SRRM2 (R680C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222072	NM_016333.4(SRRM2):c.2042C>T (p.Ser681Leu)	SRRM2 (S681L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409777	NM_016333.4(SRRM2):c.2129G>A (p.Arg710His)	SRRM2 (R710H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522002	NM_016333.4(SRRM2):c.2201C>A (p.Ser734Tyr)	SRRM2 (S734Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216726	NM_016333.4(SRRM2):c.2257C>G (p.Arg753Gly)	SRRM2 (R753G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484076	NM_016333.4(SRRM2):c.2258G>T (p.Arg753Leu)	SRRM2 (R753L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384675	NM_016333.4(SRRM2):c.2272C>T (p.Arg758Trp)	SRRM2 (R758W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321043	NM_016333.4(SRRM2):c.2302A>G (p.Lys768Glu)	SRRM2 (K768E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208473	NM_016333.4(SRRM2):c.2324T>C (p.Leu775Ser)	SRRM2 (L775S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343408	NM_016333.4(SRRM2):c.2332A>C (p.Ser778Arg)	SRRM2 (S778R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276753	NM_016333.4(SRRM2):c.2440C>T (p.Arg814Cys)	SRRM2 (R814C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232281	NM_016333.4(SRRM2):c.2443A>G (p.Ser815Gly)	SRRM2 (S815G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206442	NM_016333.4(SRRM2):c.2525C>G (p.Pro842Arg)	SRRM2 (P842R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238621	NM_016333.4(SRRM2):c.2578G>A (p.Ala860Thr)	SRRM2 (A860T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508044	NM_016333.4(SRRM2):c.2597C>T (p.Thr866Met)	SRRM2 (T866M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334502	NM_016333.4(SRRM2):c.2620G>C (p.Glu874Gln)	SRRM2 (E874Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303717	NM_016333.4(SRRM2):c.2632G>A (p.Asp878Asn)	SRRM2 (D878N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467612	NM_016333.4(SRRM2):c.2633A>T (p.Asp878Val)	SRRM2 (D878V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559892	NM_016333.4(SRRM2):c.2654C>T (p.Thr885Ile)	SRRM2 (T885I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411101	NM_016333.4(SRRM2):c.2713C>T (p.Pro905Ser)	SRRM2 (P905S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370485	NM_016333.4(SRRM2):c.2726C>T (p.Pro909Leu)	SRRM2 (P909L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542911	NM_016333.4(SRRM2):c.2744C>T (p.Pro915Leu)	SRRM2 (P915L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411506	NM_016333.4(SRRM2):c.2747A>G (p.Gln916Arg)	SRRM2 (Q916R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314912	NM_016333.4(SRRM2):c.2770T>C (p.Ser924Pro)	SRRM2 (S924P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492770	NM_016333.4(SRRM2):c.2801C>T (p.Ser934Phe)	SRRM2 (S934F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342882	NM_016333.4(SRRM2):c.2809A>G (p.Ser937Gly)	SRRM2 (S937G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241418	NM_016333.4(SRRM2):c.2813C>G (p.Pro938Arg)	SRRM2 (P938R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623860	NM_016333.4(SRRM2):c.2843G>A (p.Arg948Gln)	SRRM2 (R948Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489402	NM_016333.4(SRRM2):c.2863C>T (p.Pro955Ser)	SRRM2 (P955S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473223	NM_016333.4(SRRM2):c.2915C>T (p.Ser972Phe)	SRRM2 (S972F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559333	NM_016333.4(SRRM2):c.2933A>G (p.Lys978Arg)	SRRM2 (K978R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2215507	NM_016333.4(SRRM2):c.2954C>G (p.Pro985Arg)	SRRM2 (P985R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303003	NM_016333.4(SRRM2):c.2977A>G (p.Ile993Val)	SRRM2 (I993V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533419	NM_016333.4(SRRM2):c.3073C>G (p.Leu1025Val)	SRRM2 (L1025V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555368	NM_016333.4(SRRM2):c.3092G>T (p.Gly1031Val)	SRRM2 (G1031V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460522	NM_016333.4(SRRM2):c.3100T>C (p.Ser1034Pro)	SRRM2 (S1034P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388543	NM_016333.4(SRRM2):c.3101C>T (p.Ser1034Phe)	SRRM2 (S1034F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407612	NM_016333.4(SRRM2):c.3110C>G (p.Ala1037Gly)	SRRM2 (A1037G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361685	NM_016333.4(SRRM2):c.3139G>A (p.Glu1047Lys)	SRRM2 (E1047K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538231	NM_016333.4(SRRM2):c.3164T>C (p.Leu1055Pro)	SRRM2 (L1055P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279811	NM_016333.4(SRRM2):c.3181T>C (p.Ser1061Pro)	SRRM2 (S1061P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364226	NM_016333.4(SRRM2):c.3232C>G (p.Gln1078Glu)	SRRM2 (Q1078E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341524	NM_016333.4(SRRM2):c.3242C>T (p.Ser1081Leu)	SRRM2 (S1081L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455083	NM_016333.4(SRRM2):c.3292C>T (p.Arg1098Trp)	SRRM2 (R1098W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228751	NM_016333.4(SRRM2):c.3293G>A (p.Arg1098Gln)	SRRM2 (R1098Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2533681	NM_016333.4(SRRM2):c.3325G>A (p.Ala1109Thr)	SRRM2 (A1109T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351401	NM_016333.4(SRRM2):c.3335C>T (p.Ser1112Phe)	SRRM2 (S1112F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337534	NM_016333.4(SRRM2):c.3440C>G (p.Thr1147Arg)	SRRM2 (T1147R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272868	NM_016333.4(SRRM2):c.3448T>C (p.Ser1150Pro)	SRRM2 (S1150P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377297	NM_016333.4(SRRM2):c.3518A>G (p.Gln1173Arg)	SRRM2 (Q1173R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516660	NM_016333.4(SRRM2):c.3626C>T (p.Pro1209Leu)	SRRM2 (P1209L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 3