ClinVar for Gene (Select 23524) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 619

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370093	NM_016333.4(SRRM2):c.3350A>G (p.Asp1117Gly)	SRRM2 (D1117G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369916	NM_016333.4(SRRM2):c.4548A>C (p.Arg1516Ser)	SRRM2 (R1516S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369909	NM_016333.4(SRRM2):c.8086G>A (p.Val2696Met)	SRRM2 (V2696M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369841	NM_016333.4(SRRM2):c.5131T>A (p.Ser1711Thr)	SRRM2 (S1711T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369723	NM_016333.4(SRRM2):c.5534C>G (p.Pro1845Arg)	SRRM2 (P1845R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369522	NM_016333.4(SRRM2):c.3970G>A (p.Glu1324Lys)	SRRM2 (E1324K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369422	NM_016333.4(SRRM2):c.7742G>T (p.Ser2581Ile)	SRRM2 (S2581I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369315	NM_016333.4(SRRM2):c.569A>G (p.Lys190Arg)	LOC126862261, SRRM2 (K190R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369247	NM_016333.4(SRRM2):c.283C>G (p.Arg95Gly)	SRRM2 (R95G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367942	NM_016333.4(SRRM2):c.8246C>T (p.Ser2749Phe)	SRRM2 (S2749F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367648	NM_016333.4(SRRM2):c.4129_4131del (p.Arg1377del)	SRRM2 (R1377del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3366839	NM_016333.4(SRRM2):c.1199C>T (p.Thr400Ile)	SRRM2 (T400I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366678	NM_016333.4(SRRM2):c.6839C>T (p.Ser2280Leu)	SRRM2 (S2280L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366008	NM_016333.4(SRRM2):c.829A>T (p.Ser277Cys)	SRRM2 (S277C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365595	NM_016333.4(SRRM2):c.4894C>A (p.Leu1632Ile)	SRRM2 (L1632I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364247	NM_016333.4(SRRM2):c.80G>C (p.Arg27Pro)	SRRM2 (R27P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363995	NM_016333.4(SRRM2):c.460C>A (p.Gln154Lys)	LOC126862261, SRRM2 (Q154K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363661	NM_016333.4(SRRM2):c.1490C>G (p.Ser497Cys)	SRRM2 (S497C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363370	NM_016333.4(SRRM2):c.4871C>G (p.Pro1624Arg)	SRRM2 (P1624R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362189	NM_016333.4(SRRM2):c.5581T>G (p.Trp1861Gly)	SRRM2 (W1861G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361892	NM_016333.4(SRRM2):c.2387G>C (p.Arg796Pro)	SRRM2 (R796P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361484	NM_016333.4(SRRM2):c.745C>G (p.Arg249Gly)	SRRM2 (R249G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360800	NM_016333.4(SRRM2):c.6908C>T (p.Pro2303Leu)	SRRM2 (P2303L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360545	NM_016333.4(SRRM2):c.5885C>T (p.Thr1962Ile)	SRRM2 (T1962I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360249	NM_016333.4(SRRM2):c.3006A>T (p.Gln1002His)	SRRM2 (Q1002H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359889	NM_016333.4(SRRM2):c.7277C>T (p.Ser2426Phe)	SRRM2 (S2426F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359768	NM_016333.4(SRRM2):c.266A>T (p.Glu89Val)	SRRM2 (E89V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359126	NM_016333.4(SRRM2):c.5653C>T (p.Arg1885Ter)	SRRM2 (R1885*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal dominant 72	GPathogenic
Select item 3359049	NM_016333.4(SRRM2):c.1585C>T (p.Gln529Ter)	SRRM2 (Q529*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal dominant 72	GLikely pathogenic
Select item 3358975	NM_016333.4(SRRM2):c.205C>T (p.Arg69Ter)	SRRM2 (R69*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal dominant 72	GLikely pathogenic
Select item 3358862	NM_016333.4(SRRM2):c.3399_3403del (p.Ser1136fs)	SRRM2 (S1136fs)	Deletion (frameshift variant)	Intellectual developmental disorder, autosomal dominant 72	GPathogenic
Select item 3353869	NM_016333.4(SRRM2):c.8136-1G>T	SRRM2	Single nucleotide variant (splice acceptor variant)	SRRM2-related disorder	GUncertain significance
Select item 3350636	NM_016333.4(SRRM2):c.6274A>C (p.Thr2092Pro)	SRRM2 (T2092P)	Single nucleotide variant (missense variant)	SRRM2-related disorder	GUncertain significance
Select item 3346861	NM_016333.4(SRRM2):c.3414C>G (p.Phe1138Leu)	SRRM2 (F1138L)	Single nucleotide variant (missense variant)	SRRM2-related disorder	GUncertain significance
Select item 3346039	NM_016333.4(SRRM2):c.5549A>G (p.Lys1850Arg)	SRRM2 (K1850R)	Single nucleotide variant (missense variant)	SRRM2-related disorder	GUncertain significance
Select item 3344105	NM_016333.4(SRRM2):c.6358C>G (p.Pro2120Ala)	SRRM2 (P2120A)	Single nucleotide variant (missense variant)	SRRM2-related disorder	GUncertain significance
Select item 3343772	NM_016333.4(SRRM2):c.8063C>G (p.Ser2688Cys)	SRRM2 (S2688C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343640	NM_016333.4(SRRM2):c.6918G>C (p.Leu2306Phe)	SRRM2 (L2306F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343344	NM_016333.4(SRRM2):c.4835C>G (p.Pro1612Arg)	SRRM2 (P1612R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343092	NM_016333.4(SRRM2):c.1719_1751del (p.571GRSRSRTPARR[1])	SRRM2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3343005	NM_016333.4(SRRM2):c.4791G>T (p.Arg1597Ser)	SRRM2 (R1597S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342659	NM_016333.4(SRRM2):c.657-1G>C	SRRM2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3342112	NM_016333.4(SRRM2):c.6079C>G (p.Arg2027Gly)	SRRM2 (R2027G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341775	NM_016333.4(SRRM2):c.2493A>G (p.Ser831=)	SRRM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341667	NM_016333.4(SRRM2):c.7638ATC[1] (p.Ser2556del)	SRRM2 (S2556del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 3339936	NM_016333.4(SRRM2):c.*123T>C	SRRM2	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3339418	NM_016333.4(SRRM2):c.*91C>T	SRRM2	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3339402	NM_016333.4(SRRM2):c.6931C>T (p.Leu2311Phe)	SRRM2 (L2311F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339349	NM_016333.4(SRRM2):c.4930G>A (p.Gly1644Ser)	SRRM2 (G1644S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338588	NM_016333.4(SRRM2):c.1032+5G>T	SRRM2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3336247	NM_016333.4(SRRM2):c.7774G>A (p.Glu2592Lys)	SRRM2 (E2592K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336226	NM_016333.4(SRRM2):c.2733G>A (p.Arg911=)	SRRM2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3322727	NM_016333.4(SRRM2):c.1024A>G (p.Lys342Glu)	SRRM2 (K342E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322726	NM_016333.4(SRRM2):c.5350A>G (p.Thr1784Ala)	SRRM2 (T1784A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322725	NM_016333.4(SRRM2):c.5957C>T (p.Thr1986Ile)	SRRM2 (T1986I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322724	NM_016333.4(SRRM2):c.7288A>G (p.Arg2430Gly)	SRRM2 (R2430G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322723	NM_016333.4(SRRM2):c.4491T>G (p.Ser1497Arg)	SRRM2 (S1497R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322722	NM_016333.4(SRRM2):c.5545C>T (p.Arg1849Trp)	SRRM2 (R1849W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322721	NM_016333.4(SRRM2):c.6385C>A (p.Arg2129Ser)	SRRM2 (R2129S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322720	NM_016333.4(SRRM2):c.4484C>A (p.Pro1495Gln)	SRRM2 (P1495Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322719	NM_016333.4(SRRM2):c.4331C>T (p.Ser1444Phe)	SRRM2 (S1444F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3322718	NM_016333.4(SRRM2):c.2828C>T (p.Ser943Leu)	SRRM2 (S943L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322717	NM_016333.4(SRRM2):c.4493G>A (p.Arg1498His)	SRRM2 (R1498H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3322716	NM_016333.4(SRRM2):c.3787A>C (p.Met1263Leu)	SRRM2 (M1263L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322715	NM_016333.4(SRRM2):c.7468C>A (p.His2490Asn)	SRRM2 (H2490N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322714	NM_016333.4(SRRM2):c.5975G>C (p.Arg1992Thr)	SRRM2 (R1992T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322713	NM_016333.4(SRRM2):c.3770C>G (p.Ser1257Cys)	SRRM2 (S1257C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322712	NM_016333.4(SRRM2):c.8064_8065del (p.Arg2689fs)	SRRM2 (R2689fs)	Microsatellite (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3322711	NM_016333.4(SRRM2):c.6437T>C (p.Met2146Thr)	SRRM2 (M2146T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322710	NM_016333.4(SRRM2):c.2115A>C (p.Arg705Ser)	SRRM2 (R705S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3322709	NM_016333.4(SRRM2):c.6043C>T (p.Arg2015Cys)	SRRM2 (R2015C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322708	NM_016333.4(SRRM2):c.5282G>A (p.Arg1761His)	SRRM2 (R1761H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322707	NM_016333.4(SRRM2):c.3250C>T (p.Pro1084Ser)	SRRM2 (P1084S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3322706	NM_016333.4(SRRM2):c.7817G>A (p.Arg2606His)	SRRM2 (R2606H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322705	NM_016333.4(SRRM2):c.2056C>A (p.Pro686Thr)	SRRM2 (P686T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322704	NM_016333.4(SRRM2):c.4607G>A (p.Arg1536Lys)	SRRM2 (R1536K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322703	NM_016333.4(SRRM2):c.5068A>C (p.Ser1690Arg)	SRRM2 (S1690R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322702	NM_016333.4(SRRM2):c.6155G>A (p.Arg2052His)	SRRM2 (R2052H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3322701	NM_016333.4(SRRM2):c.2171C>T (p.Ser724Phe)	SRRM2 (S724F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3322699	NM_016333.4(SRRM2):c.3376A>G (p.Met1126Val)	SRRM2 (M1126V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3322698	NM_016333.4(SRRM2):c.3557A>C (p.Lys1186Thr)	SRRM2 (K1186T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322697	NM_016333.4(SRRM2):c.4613G>A (p.Arg1538His)	SRRM2 (R1538H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3322696	NM_016333.4(SRRM2):c.5326C>T (p.Arg1776Cys)	SRRM2 (R1776C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3322695	NM_016333.4(SRRM2):c.773G>A (p.Arg258His)	SRRM2 (R258H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3322694	NM_016333.4(SRRM2):c.8005C>T (p.Pro2669Ser)	SRRM2 (P2669S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3322693	NM_016333.4(SRRM2):c.2821G>T (p.Val941Leu)	SRRM2 (V941L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3322692	NM_016333.4(SRRM2):c.6086G>A (p.Arg2029His)	SRRM2 (R2029H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322691	NM_016333.4(SRRM2):c.5621G>A (p.Arg1874Gln)	SRRM2 (R1874Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322690	NM_016333.4(SRRM2):c.7930T>A (p.Ser2644Thr)	SRRM2 (S2644T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3257580	NM_016333.4(SRRM2):c.7899TTC[3] (p.Ser2648del)	SRRM2 (S2648del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 3253560	NM_016333.4(SRRM2):c.5204C>G (p.Pro1735Arg)	SRRM2 (P1735R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252955	NM_016333.4(SRRM2):c.2926G>T (p.Asp976Tyr)	SRRM2 (D976Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252833	NM_016333.4(SRRM2):c.418G>C (p.Gly140Arg)	LOC126862261, SRRM2 (G140R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251835	NM_016333.4(SRRM2):c.1307C>G (p.Ser436Cys)	SRRM2 (S436C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251640	NM_016333.4(SRRM2):c.656+15T>C	SRRM2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3251525	NM_016333.4(SRRM2):c.1027A>G (p.Lys343Glu)	SRRM2 (K343E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251514	NM_016333.4(SRRM2):c.5498C>T (p.Thr1833Ile)	SRRM2 (T1833I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251273	NM_016333.4(SRRM2):c.6143T>G (p.Leu2048Arg)	SRRM2 (L2048R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250977	NM_016333.4(SRRM2):c.3439A>T (p.Thr1147Ser)	SRRM2 (T1147S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3243524	NC_000016.9:g.(?_2550259)_(3154076_?)del	AMDHD2, ATP6V0C +26 more	Deletion	Caused by mutation in the TBC1 domain family, member 24 +2 more	GPathogenic

<< First< Prev

Page of 7