"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 101

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 205673	NM_001134407.3(GRIN2A):c.3365G>A (p.Gly1122Asp)	GRIN2A (G1122D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 375535	NM_001134407.3(GRIN2A):c.2966A>G (p.Asn989Ser)	GRIN2A (N989S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +2 more	GConflicting classifications of pathogenicity
Select item 2502368	NM_001134407.3(GRIN2A):c.2844del (p.Gln950fs)	GRIN2A (Q950fs)	Deletion (frameshift variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 3024515	NM_001134407.3(GRIN2A):c.2466C>G (p.Tyr822Ter)	GRIN2A (Y822*)	Single nucleotide variant (nonsense)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 495226	NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu)	GRIN2A (A818E)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GPathogenic/Likely pathogenic
Select item 803217	NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr)	GRIN2A (M817T)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GPathogenic/Likely pathogenic
Select item 423745	NM_001134407.3(GRIN2A):c.2450T>G (p.Met817Arg)	GRIN2A (M817R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 205659	NM_001134407.3(GRIN2A):c.2449A>G (p.Met817Val)	GRIN2A (M817V)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1325703	NM_001134407.3(GRIN2A):c.2434C>A (p.Leu812Met)	GRIN2A (L812M)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GPathogenic/Likely pathogenic
Select item 422235	NM_001134407.3(GRIN2A):c.2427C>A (p.Ser809Arg)	GRIN2A (S809R)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GLikely pathogenic
Select item 1325733	NM_001134407.3(GRIN2A):c.2408del (p.Glu803fs)	GRIN2A (E803fs)	Deletion (frameshift variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 1325732	NM_001134407.3(GRIN2A):c.2407G>T (p.Glu803Ter)	GRIN2A (E803*)	Single nucleotide variant (nonsense)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 982631	NM_001134407.3(GRIN2A):c.2384G>A (p.Trp795Ter)	GRIN2A (W795*)	Single nucleotide variant (nonsense)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 1325731	NM_001134407.3(GRIN2A):c.2341_2343delinsAT (p.Gln781fs)	GRIN2A (Q781fs)	Indel (frameshift variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 1325730	NM_001134407.3(GRIN2A):c.2334_2338del (p.Leu779fs)	GRIN2A (L779fs)	Deletion (frameshift variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 982968	NM_001134407.3(GRIN2A):c.2336T>G (p.Leu779Trp)	GRIN2A (L779W)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 976247	NM_001134407.3(GRIN2A):c.2335_2336delinsAG (p.Leu779Arg)	GRIN2A (L779R)	Indel (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 952584	NM_001134407.3(GRIN2A):c.2326G>T (p.Asp776Tyr)	GRIN2A (D776Y)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GPathogenic/Likely pathogenic
Select item 464051	NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser)	GRIN2A (G760S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1325729	NM_001134407.3(GRIN2A):c.2253dup (p.Ser752fs)	GRIN2A (S752fs)	Duplication (frameshift variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 976363	NM_001134407.3(GRIN2A):c.2221A>G (p.Arg741Gly)	GRIN2A (R741G)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 205658	NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr)	GRIN2A (A733T)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 205657	NM_001134407.3(GRIN2A):c.2191G>A (p.Asp731Asn)	GRIN2A (D731N)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GPathogenic/Likely pathogenic
Select item 205656	NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)	GRIN2A (A716T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1325728	NM_001134407.3(GRIN2A):c.2140del (p.Glu714fs)	GRIN2A (E714fs)	Deletion (frameshift variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 372911	NM_001134407.3(GRIN2A):c.2138T>G (p.Val713Gly)	GRIN2A (V713G)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1325870	NM_001134407.3(GRIN2A):c.2113A>G (p.Met705Val)	GRIN2A (M705V)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 433125	NM_001134407.3(GRIN2A):c.2095C>T (p.Pro699Ser)	GRIN2A (P699S)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 205689	NM_001134407.3(GRIN2A):c.2084G>A (p.Arg695Gln)	GRIN2A (R695Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 1325869	NM_001134407.3(GRIN2A):c.2081T>C (p.Ile694Thr)	GRIN2A (I694T)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GPathogenic/Likely pathogenic
Select item 995988	NM_001134407.3(GRIN2A):c.2077A>G (p.Asn693Asp)	GRIN2A (N693D)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 1325868	NM_001134407.3(GRIN2A):c.2063G>C (p.Gly688Ala)	GRIN2A (G688A)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 205654	NM_001134407.3(GRIN2A):c.2050A>G (p.Thr684Ala)	GRIN2A (T684A)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GLikely pathogenic
Select item 2500345	NM_001134407.3(GRIN2A):c.2047G>C (p.Gly683Arg)	GRIN2A (G683R)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 976345	NM_001134407.3(GRIN2A):c.2042G>A (p.Arg681Gln)	GRIN2A (R681Q)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 88734	NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter)	GRIN2A (R681*)	Single nucleotide variant (nonsense)	Landau-Kleffner syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1325727	NM_001134407.3(GRIN2A):c.2008-1G>T	GRIN2A	Single nucleotide variant (splice acceptor variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 1325726	NM_001134407.3(GRIN2A):c.2007+2dup	GRIN2A	Duplication (splice donor variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 1325724	NM_001134407.3(GRIN2A):c.2007+1G>A	GRIN2A	Single nucleotide variant (splice donor variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 941334	NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr)	GRIN2A (I654T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1325867	NM_001134407.3(GRIN2A):c.1959G>A (p.Met653Ile)	GRIN2A (M653I)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 1325866	NM_001134407.3(GRIN2A):c.1957A>G (p.Met653Val)	GRIN2A (M653V)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 88733	NM_001134407.3(GRIN2A):c.1954T>G (p.Phe652Val)	GRIN2A (F652V)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 813733	NM_001134407.3(GRIN2A):c.1946_1947delinsCT (p.Leu649Pro)	GRIN2A (L649P)	Indel (missense variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 39662	NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val)	GRIN2A (L649V)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GPathogenic/Likely pathogenic
Select item 205652	NM_001134407.3(GRIN2A):c.1943A>G (p.Asn648Ser)	GRIN2A (N648S)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 488524	NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala)	GRIN2A (T646A)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 1325864	NM_001134407.3(GRIN2A):c.1930A>G (p.Ser644Gly)	GRIN2A (S644G)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 985807	NM_001134407.3(GRIN2A):c.1903G>A (p.Ala635Thr)	GRIN2A (A635T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 29733	NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys)	GRIN2A (N615K)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 224990	NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser)	GRIN2A (N614S)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1325863	NM_001134407.3(GRIN2A):c.1832T>A (p.Leu611Gln)	GRIN2A (L611Q)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1325723	NM_001134407.3(GRIN2A):c.1818G>A (p.Trp606Ter)	GRIN2A (W606*)	Single nucleotide variant (nonsense)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 1325722	NM_001134407.3(GRIN2A):c.1783_1784del (p.His595fs)	GRIN2A (H595fs)	Deletion (frameshift variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 1325721	NM_001134407.3(GRIN2A):c.1782_1783insTT (p.His595fs)	GRIN2A (H595fs)	Insertion (frameshift variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 265532	NM_001134407.3(GRIN2A):c.1692del (p.Met564fs)	GRIN2A (M564fs)	Deletion (frameshift variant)	Landau-Kleffner syndrome +1 more	GLikely pathogenic
Select item 1325720	NM_001134407.3(GRIN2A):c.1686del (p.Phe562fs)	GRIN2A (F562fs)	Deletion (frameshift variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 39663	NM_001134407.3(GRIN2A):c.1655C>G (p.Pro552Arg)	GRIN2A (P552R)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GPathogenic
Select item 1325719	NM_001134407.3(GRIN2A):c.1651+1del	GRIN2A	Deletion (splice donor variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 1325862	NM_001134407.3(GRIN2A):c.1642G>A (p.Ala548Thr)	GRIN2A (A548T)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 390621	NM_001134407.3(GRIN2A):c.1642G>C (p.Ala548Pro)	GRIN2A (A548P)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GLikely pathogenic
Select item 1325718	NM_001134407.3(GRIN2A):c.1613C>G (p.Ser538Ter)	GRIN2A (S538*)	Single nucleotide variant (nonsense)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 427106	NM_001134407.3(GRIN2A):c.1595G>T (p.Gly532Val)	GRIN2A (G532V)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GLikely pathogenic
Select item 88730	NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met)	GRIN2A (T531M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1325717	NM_001134407.3(GRIN2A):c.1586del (p.Val529fs)	GRIN2A (V529fs)	Deletion (frameshift variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 1325716	NM_001134407.3(GRIN2A):c.1585del (p.Val529fs)	GRIN2A (V529fs)	Deletion (frameshift variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 1719578	NM_001134407.3(GRIN2A):c.1579C>A (p.Pro527Thr)	GRIN2A (P527T)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 88732	NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His)	GRIN2A (R518H)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GPathogenic/Likely pathogenic
Select item 205687	NM_001134407.3(GRIN2A):c.1552C>T (p.Arg518Cys)	GRIN2A (R518C)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1325714	NM_001134407.3(GRIN2A):c.1497+1G>C	GRIN2A	Single nucleotide variant (splice donor variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 930862	NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser)	GRIN2A (G498S)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GConflicting classifications of pathogenicity
Select item 812185	NM_001134407.3(GRIN2A):c.1447G>A (p.Gly483Arg)	GRIN2A (G483R)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GPathogenic/Likely pathogenic
Select item 976151	NM_001134407.3(GRIN2A):c.1400T>A (p.Leu467His)	GRIN2A (L467H)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 813772	NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs)	GRIN2A (K454fs)	Deletion (frameshift variant)	Landau-Kleffner syndrome	GPathogenic/Likely pathogenic
Select item 1325713	NM_001134407.3(GRIN2A):c.1344_1345insCCTAG (p.Gly449fs)	GRIN2A (G449fs)	Insertion (frameshift variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 1697320	NM_001134407.3(GRIN2A):c.1343A>G (p.Glu448Gly)	GRIN2A (E448G)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GConflicting classifications of pathogenicity
Select item 433127	NM_001134407.3(GRIN2A):c.1306T>C (p.Cys436Arg)	GRIN2A (C436R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1325860	NM_001134407.3(GRIN2A):c.1232T>A (p.Leu411Gln)	GRIN2A (L411Q)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 1325712	NM_001134407.3(GRIN2A):c.1123-1G>T	GRIN2A	Single nucleotide variant (splice acceptor variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 88731	NM_001134407.3(GRIN2A):c.1123-2A>G	GRIN2A	Single nucleotide variant (splice acceptor variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 1325711	NM_001134407.3(GRIN2A):c.1036A>T (p.Lys346Ter)	GRIN2A (K346*)	Single nucleotide variant (nonsense)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 88727	NM_001134407.3(GRIN2A):c.1007+1G>A	GRIN2A	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1325710	NM_001134407.3(GRIN2A):c.1001T>A (p.Leu334Ter)	GRIN2A (L334*)	Single nucleotide variant (nonsense)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 981283	NM_001134407.3(GRIN2A):c.730dup (p.Arg244fs)	GRIN2A (R244fs)	Duplication (frameshift variant)	Landau-Kleffner syndrome +1 more	GPathogenic/Likely pathogenic
Select item 433129	NM_001134407.3(GRIN2A):c.692G>A (p.Cys231Tyr)	GRIN2A (C231Y)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 1325859	NM_001134407.3(GRIN2A):c.691T>C (p.Cys231Arg)	GRIN2A (C231R)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 29732	NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter)	GRIN2A (Q218*)	Single nucleotide variant (nonsense)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 205685	NM_001134407.3(GRIN2A):c.627del (p.Phe210fs)	GRIN2A (F210fs)	Deletion (frameshift variant)	Landau-Kleffner syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1325709	NM_001134407.3(GRIN2A):c.594G>A (p.Trp198Ter)	GRIN2A (W198*)	Single nucleotide variant (nonsense)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 1325858	NM_001134407.3(GRIN2A):c.551T>G (p.Ile184Ser)	GRIN2A (I184S)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 1325708	NM_001134407.3(GRIN2A):c.500G>A (p.Trp167Ter)	GRIN2A (W167*)	Single nucleotide variant (nonsense)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 391457	NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter)	GRIN2A (Q163*)	Single nucleotide variant (nonsense)	Landau-Kleffner syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1325707	NM_001134407.3(GRIN2A):c.415-2A>G	GRIN2A	Single nucleotide variant (splice acceptor variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 2500352	NM_001134407.3(GRIN2A):c.254_261del (p.His85fs)	GRIN2A (H85fs)	Deletion (frameshift variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 433130	NM_001134407.3(GRIN2A):c.236C>G (p.Pro79Arg)	GRIN2A (P79R)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 975936	NM_001134407.3(GRIN2A):c.176_179dup (p.Ala61fs)	GRIN2A (A61fs)	Duplication (frameshift variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 1325706	NM_001134407.3(GRIN2A):c.172G>T (p.Glu58Ter)	GRIN2A (E58*)	Single nucleotide variant (nonsense)	Landau-Kleffner syndrome	GPathogenic/Likely pathogenic
Select item 383996	NM_001134407.3(GRIN2A):c.165G>A (p.Trp55Ter)	GRIN2A (W55*)	Single nucleotide variant (nonsense)	Landau-Kleffner syndrome +1 more	GLikely pathogenic
Select item 1325705	NM_001134407.3(GRIN2A):c.90dup (p.Pro31fs)	GRIN2A (P31fs)	Duplication (frameshift variant)	Landau-Kleffner syndrome	GLikely pathogenic
Select item 88728	NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr)	GRIN2A (M1T)	Single nucleotide variant (missense variant +1 more)	Landau-Kleffner syndrome	GPathogenic/Likely pathogenic

<< First< Prev

Page of 2