ClinVar for MedGen (Select 324748) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 118

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 691929	NM_032656.4(DHX37):c.1145A>G (p.Asp382Gly)	DHX37 (D382G)	Single nucleotide variant (missense variant)	Intellectual disability +9 more	GLikely pathogenic
Select item 691862	NM_006659.4(TUBGCP2):c.2025-2A>G	TUBGCP2	Single nucleotide variant (splice acceptor variant)	Abnormality of neuronal migration +1 more	GPathogenic
Select item 691861	NM_006659.4(TUBGCP2):c.889C>T (p.Arg297Cys)	LOC126861106, TUBGCP2 (R297C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 691860	NM_006659.4(TUBGCP2):c.1843G>C (p.Ala615Pro)	TUBGCP2 (A615P +2 more)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration +1 more	GConflicting classifications of pathogenicity
Select item 691859	NM_006659.4(TUBGCP2):c.997C>T (p.Arg333Cys)	LOC126861106, TUBGCP2 (R361C +2 more)	Single nucleotide variant (missense variant +1 more)	Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures +1 more	GUncertain significance
Select item 599005	NM_001165963.4(SCN1A):c.3327dup (p.Ser1110fs)	LOC102724058, SCN1A (S1110fs +5 more)	Duplication (non-coding transcript variant +1 more)	Polymicrogyria +11 more	GPathogenic
Select item 586989	NM_000702.4(ATP1A2):c.835del (p.Arg279fs)	ATP1A2 (R279fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 562228	NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs)	ATP1A2 (C702fs)	Deletion (frameshift variant)	Familial hemiplegic migraine	GPathogenic
Select item 523390	NM_001015877.2(PHF6):c.956G>C (p.Arg319Pro)	PHF6 (R319P)	Single nucleotide variant (missense variant)	Macrocephaly +7 more	GUncertain significance
Select item 424741	NM_001447.2(FAT2):c.[2773T>C];[930T>G]			Abnormality of neuronal migration	GUncertain significance
Select item 424740	NM_032856.3(WDR73):c.[293T>C];[333delG]			Abnormality of neuronal migration	GUncertain significance
Select item 424739	NM_006514.3(SCN10A):c.[2530C>T];[597G>T]			Abnormality of neuronal migration	GUncertain significance
Select item 424738	NM_001083961.1(WDR62):c.[2515C>T];[3304C>T]			Abnormality of neuronal migration	GPathogenic
Select item 424737	NM_015959.3(TMX2):c.[326A>G];[691C>T]			Abnormality of neuronal migration	GUncertain significance
Select item 424736	NM_005045.3(RELN):c.[2213G>A];[9427T>G]			Abnormality of neuronal migration	GPathogenic
Select item 424735	NM_017890.4(VPS13B):c.[3582delT];[6370_6371delAT]			Abnormality of neuronal migration	GPathogenic
Select item 424734	NM_133436.3(ASNS):c.[1439C>T];[1648C>T]			Abnormality of neuronal migration	GPathogenic
Select item 218904	NM_003569.3(STX7):c.159A>C (p.Gln53His)	STX7 (Q53H)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration	GLikely pathogenic
Select item 208975	NM_138420.4(AHNAK2):c.2695G>T (p.Val899Leu)	AHNAK2 (V899L +1 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208974	NM_138420.4(AHNAK2):c.5025G>C (p.Lys1675Asn)	AHNAK2 (K1675N +1 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208972	NM_022444.4(SLC13A1):c.277A>C (p.Ile93Leu)	SLC13A1 (I93L)	Single nucleotide variant (5 prime UTR variant +1 more)	Abnormality of neuronal migration	GBenign
Select item 208971	NM_022444.4(SLC13A1):c.838A>G (p.Asn280Asp)	SLC13A1 (N280D +1 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208969	NM_052909.5(PLEKHG4B):c.3830G>A (p.Arg1277Gln)	PLEKHG4B (R1277Q)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208968	NM_052909.5(PLEKHG4B):c.2635G>A (p.Glu879Lys)	PLEKHG4B (E879K)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208967	NM_001141917.2(SPATA31F1):c.2452G>T (p.Val818Leu)	SPATA31F1, PHF24 (V818L)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208966	NM_001141917.2(SPATA31F1):c.2554G>A (p.Val852Ile)	PHF24, SPATA31F1 (V852I)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208965	NM_001141917.2(SPATA31F1):c.2939A>T (p.Asn980Ile)	PHF24, SPATA31F1 (N980I)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208964	NM_001141917.2(SPATA31F1):c.3619A>C (p.Thr1207Pro)	PHF24, SPATA31F1 (T1207P)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208963	NM_001141917.2(SPATA31F1):c.3986A>C (p.Asn1329Thr)	PHF24, SPATA31F1 (N1329T)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208960	NM_001382273.1(TNK2):c.766C>T (p.Arg256Cys)	TNK2 (R256C +2 more)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration	GBenign
Select item 208959	NM_001382273.1(TNK2):c.1777G>A (p.Val593Met)	TNK2 (V578M +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 208958	NM_015687.5(FILIP1):c.923C>T (p.Ser308Leu)	FILIP1 (S308L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 208957	NM_015687.5(FILIP1):c.1483A>G (p.Lys495Glu)	FILIP1 (K495E +1 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208956	NM_015687.5(FILIP1):c.3316G>C (p.Gly1106Arg)	FILIP1 (G1106R +1 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208955	NM_001377405.1(ATXN7):c.844G>A (p.Val282Met)	ATXN7 (V282M +1 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208954	NM_001377405.1(ATXN7):c.211T>G (p.Ser71Ala)	ATXN7, LOC129936979 (S71A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 208951	NM_022065.5(THADA):c.362G>A (p.Arg121His)	THADA (R121H)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration	GBenign
Select item 208950	NM_022065.5(THADA):c.2468C>T (p.Ser823Leu)	THADA (S823L +1 more)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration	GBenign
Select item 208949	NM_003796.3(URI1):c.698C>T (p.Thr233Ile)	URI1 (T215I +1 more)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration	GBenign
Select item 208948	NM_001252641.2(URI1):c.33C>A (p.His11Gln)	URI1 (H11Q)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208947	NM_001267550.2(TTN):c.1051G>A (p.Val351Met)	TTN (V351M)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 208946	NM_001988.4(EVPL):c.314G>A (p.Arg105Gln)	EVPL (R105Q)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208945	NM_001988.4(EVPL):c.4126G>T (p.Val1376Leu)	EVPL (V1376L +1 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208944	NM_001401501.2(MUC16):c.2620_2621del (p.Ser874_Pro875insTer)	MUC16	Microsatellite (frameshift variant)	Abnormality of neuronal migration	GBenign
Select item 208943	NM_001401501.2(MUC16):c.26486C>T (p.Pro8829Leu)	MUC16 (P8789L +2 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208942	NM_001394639.1(MROH2A):c.2837_2838dup (p.Leu947fs)	MROH2A (L947fs)	Duplication (frameshift variant)	Abnormality of neuronal migration	GBenign
Select item 208941	NM_001394639.1(MROH2A):c.1952G>A (p.Arg651Gln)	MROH2A (R651Q)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208939	NM_002116.8(HLA-A):c.658G>C (p.Asp220His)	HLA-A (D220H)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208938	NM_002116.8(HLA-A):c.383G>A (p.Gly128Glu)	HLA-A (G128E)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208937	NM_001378328.1(CELSR1):c.6224C>T (p.Ala2075Val)	CELSR1 (A2075V)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208936	NM_001378328.1(CELSR1):c.7268C>T (p.Thr2423Met)	CELSR1 (T2423M)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208935	NM_022835.3(PLEKHG2):c.4073T>C (p.Leu1358Ser)	PLEKHG2 (L1358S)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration	GBenign
Select item 208934	NM_022835.3(PLEKHG2):c.1230C>A (p.Phe410Leu)	PLEKHG2 (F410L +1 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208932	NM_001308172.2(ACSM2A):c.1414C>T (p.Arg472Trp)	ACSM2A (R472W +1 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208931	NM_001308172.2(ACSM2A):c.72C>G (p.Tyr24Ter)	ACSM2A (Y24*)	Single nucleotide variant (nonsense +1 more)	Abnormality of neuronal migration	GBenign
Select item 208930	NM_017554.3(PARP14):c.2083C>A (p.Pro695Thr)	PARP14 (P695T)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208929	NM_017554.3(PARP14):c.1455T>A (p.Ser485Arg)	PARP14 (S485R)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208928	NM_018323.4(PI4K2B):c.861G>T (p.Gln287His)	PI4K2B (Q287H)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration	GBenign
Select item 208927	NM_018323.4(PI4K2B):c.10C>A (p.Pro4Thr)	PI4K2B (P4T)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration	GBenign
Select item 208926	NM_015158.5(KANK1):c.3992C>G (p.Ser1331Cys)	KANK1 (S1331C +6 more)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration	GBenign
Select item 208925	NM_015158.5(KANK1):c.5del (p.Ala2fs)	KANK1 (A2fs)	Deletion (frameshift variant +1 more)	Abnormality of neuronal migration	GBenign
Select item 208924	NM_017551.3(GRID1):c.437C>T (p.Pro146Leu)	GRID1 (P146L)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208923	NM_017551.3(GRID1):c.442C>T (p.Arg148Cys)	GRID1 (R148C)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208922	NM_145037.4(NXPE3):c.956G>C (p.Gly319Ala)	NXPE3 (G319A)	Single nucleotide variant (missense variant +2 more)	Abnormality of neuronal migration	GBenign
Select item 208921	NM_145037.4(NXPE3):c.463del (p.Ala155fs)	NXPE3 (A155fs)	Deletion (frameshift variant +1 more)	Abnormality of neuronal migration	GBenign
Select item 208920	NM_145037.4(NXPE3):c.452_459del (p.Leu151fs)	NXPE3 (L151fs)	Deletion (frameshift variant +1 more)	Abnormality of neuronal migration	GBenign
Select item 208918	NM_001401501.2(MUC16):c.7075A>G (p.Ile2359Val)	MUC16 (I2319V +2 more)	Single nucleotide variant (missense variant)	MUC16-related condition	GLikely benign
Select item 208917	NM_001401501.2(MUC16):c.7099del (p.Ser2367fs)	MUC16 (S2327fs +2 more)	Deletion (frameshift variant)	MUC16-related condition	GLikely benign
Select item 208916	NM_001401501.2(MUC16):c.10420T>C (p.Ser3474Pro)	MUC16 (S3434P +2 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208915	NM_001401501.2(MUC16):c.26300C>T (p.Ala8767Val)	MUC16 (A8727V +2 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208914	NM_020160.2(MEIS3):c.202C>A	MEIS3 (L68I +1 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208913	NM_004714.3(DYRK1B):c.625G>A (p.Val209Ile)	DYRK1B (V209I)	Single nucleotide variant (missense variant)	DYRK1B-related condition	GUncertain significance
Select item 208912	NM_001828.5(CLC):c.389T>G	CLC (I130S)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208910	NM_001083961.1(WDR62):c.2030T>C	WDR62 (L677P)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GPathogenic
Select item 208909	NM_002918.5(RFX1):c.2695G>A (p.Gly899Ser)	RFX1 (G899S)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208908	NM_005371.5(METTL1):c.542T>C	METTL1 (L181P)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration	GUncertain significance
Select item 208906	NM_004538.6(NAP1L3):c.1310C>G (p.Ala437Gly)	NAP1L3 (A437G)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208904	NM_002536.4(TBC1D25):c.1145T>G (p.Leu382Arg)	TBC1D25 (L382R +3 more)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration	GBenign
Select item 208903	NM_203408.4(FAM47A):c.1310C>T (p.Thr437Met)	FAM47A (T437M)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208902	NM_001388459.1(FRMPD3):c.2504G>T (p.Arg835Leu)	FRMPD3 (R868L +2 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208900	NM_004650.3(PNPLA4):c.224G>A (p.Arg75Lys)	LOC126863198, PNPLA4 (R75K)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration	GUncertain significance
Select item 208899	NM_080701.4(TREX2):c.259C>T (p.Arg87Ter)	TREX2 (R87*)	Single nucleotide variant (nonsense)	Abnormality of neuronal migration	GBenign
Select item 208897	NM_016024.4(RBMX2):c.860G>A (p.Arg287His)	RBMX2 (R287H)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208895	NM_032621.4(BEX2):c.-65G>A	BEX2 (C11Y +1 more)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration	GBenign
Select item 208893	NM_001394560.1(ZMAT1):c.1984C>T (p.Pro662Ser)	ZMAT1 (P605S +2 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208891	NM_053281.3(DACH2):c.1261C>T (p.Pro421Ser)	DACH2 (P421S +2 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208890	NM_001256789.3(CACNA1F):c.1535G>A (p.Arg512His)	CACNA1F (R523H +2 more)	Single nucleotide variant (missense variant)	CACNA1F-related condition +4 more	GBenign/Likely benign
Select item 208889	NM_015884.4(MBTPS2):c.1013A>T (p.His338Leu)	MBTPS2 (H338L)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208888	NM_007131.5(ZNF75D):c.1100G>A (p.Cys367Tyr)	ZNF75D (C367Y +1 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208887	NM_001256155.3(ARMCX4):c.574A>T (p.Thr192Ser)	ARMCX4 (T192S)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration	GBenign
Select item 208885	NM_000292.3(PHKA2):c.2951T>C (p.Ile984Thr)	PHKA2 (I984T)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208884	NM_203408.4(FAM47A):c.127A>G (p.Met43Val)	FAM47A (M43V)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GUncertain significance
Select item 208883	NM_021963.4(NAP1L2):c.508T>C (p.Ser170Pro)	NAP1L2 (S170P)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GUncertain significance
Select item 208882	NM_006044.4(HDAC6):c.1538G>A (p.Arg513His)	HDAC6 (R513H +1 more)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration	GUncertain significance
Select item 208881	NM_033518.4(SLC38A5):c.806T>C (p.Phe269Ser)	SLC38A5 (F269S)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GUncertain significance
Select item 208880	NM_001304548.2(CFAP47):c.8311A>G (p.Met2771Val)	CXorf30, CFAP47 (M2771V)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GUncertain significance
Select item 208879	NM_001079855.2(GYG2):c.340G>A (p.Asp114Asn)	GYG2 (D145N +1 more)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration	GUncertain significance
Select item 208878	NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys)	FLNA, LOC107988032 (E2635K +1 more)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia +5 more	GConflicting classifications of pathogenicity
Select item 208877	NM_017711.4(GDPD2):c.395C>T (p.Ala132Val)	GDPD2 (A132V +1 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208875	NM_001324144.2(ZNF41):c.677A>T (p.His226Leu)	ZNF41 (H226L +7 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign

<< First< Prev

Page of 2