ClinVar for MedGen (Select 868343) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 174

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2637936	NM_013436.5(NCKAP1):c.1861C>T (p.Gln621Ter)	NCKAP1 (Q621* +1 more)	Single nucleotide variant (nonsense)	Autistic behavior +1 more	GPathogenic
Select item 2501810	NM_001134407.3(GRIN2A):c.1946T>G (p.Leu649Arg)	GRIN2A (L649R)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely pathogenic
Select item 2442390	NM_172084.3(CAMK2B):c.946+9653_946+9655del	CAMK2B	Deletion (intron variant)	Neurodevelopmental abnormality	GUncertain significance
Select item 1704246	NM_138364.4(PRMT9):c.554G>A (p.Gly185Glu)	PRMT9 (G185E +1 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental abnormality	GPathogenic
Select item 1704245	NM_138364.4(PRMT9):c.545del (p.Leu182fs)	PRMT9 (L182fs +1 more)	Deletion (frameshift variant +2 more)	Neurodevelopmental abnormality	GPathogenic
Select item 1704244	NM_138364.4(PRMT9):c.491del (p.Thr164fs)	PRMT9 (T164fs +1 more)	Deletion (frameshift variant +2 more)	Neurodevelopmental abnormality	GPathogenic
Select item 1704243	NM_138364.4(PRMT9):c.415G>T (p.Glu139Ter)	PRMT9 (E139* +1 more)	Single nucleotide variant (nonsense +2 more)	Neurodevelopmental abnormality	GPathogenic
Select item 1704242	NM_138364.4(PRMT9):c.270T>G (p.Tyr90Ter)	PRMT9 (Y90*)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental abnormality	GPathogenic
Select item 1704241	NM_138364.4(PRMT9):c.258_261del (p.Leu87fs)	PRMT9 (L87fs)	Microsatellite (5 prime UTR variant +2 more)	Neurodevelopmental abnormality	GPathogenic
Select item 1704240	NM_138364.4(PRMT9):c.257T>A (p.Leu86Ter)	PRMT9 (L86*)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental abnormality	GPathogenic
Select item 1704239	NM_138364.4(PRMT9):c.2405C>T (p.Thr802Ile)	PRMT9 (T394I +4 more)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GUncertain significance
Select item 1704238	NM_138364.4(PRMT9):c.2356dup (p.Ile786fs)	PRMT9 (I378fs +4 more)	Duplication (frameshift variant)	Neurodevelopmental abnormality	GPathogenic
Select item 1704237	NM_138364.4(PRMT9):c.2342del (p.Gly781fs)	PRMT9 (G373fs +4 more)	Deletion (frameshift variant)	Neurodevelopmental abnormality	GPathogenic
Select item 1704236	NM_138364.4(PRMT9):c.1918dup (p.Val640fs)	PRMT9 (V232fs +4 more)	Duplication (frameshift variant)	Neurodevelopmental abnormality	GPathogenic
Select item 1704235	NM_138364.4(PRMT9):c.1772T>C (p.Phe591Ser)	PRMT9 (F183S +4 more)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GUncertain significance
Select item 1704234	NM_138364.4(PRMT9):c.219G>A (p.Trp73Ter)	PRMT9 (W73*)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental abnormality	GPathogenic
Select item 1704233	NC_000004.11:g.148550590_148578202dup	TMEM184C, PRMT9	Duplication	Neurodevelopmental abnormality	GUncertain significance
Select item 1704232	NM_138364.4(PRMT9):c.1318C>T (p.Gln440Ter)	PRMT9 (Q135* +4 more)	Single nucleotide variant (nonsense)	Neurodevelopmental abnormality	GPathogenic
Select item 1704231	NM_138364.4(PRMT9):c.1144C>A (p.Gln382Lys)	PRMT9 (Q269K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1704230	NM_138364.4(PRMT9):c.1143del (p.Gln382fs)	PRMT9 (Q269fs +3 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental abnormality	GPathogenic
Select item 1704229	NM_138364.4(PRMT9):c.1075C>T (p.Arg359Ter)	PRMT9 (R246* +3 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental abnormality	GPathogenic
Select item 1704228	NM_138364.3:c.(846+1_847-1)_(1330+1_1331-1)del	PRMT9	Deletion	Neurodevelopmental abnormality	GPathogenic
Select item 1704227	NM_138364.4(PRMT9):c.836del (p.Leu279fs)	PRMT9 (L166fs +1 more)	Deletion (frameshift variant +2 more)	Neurodevelopmental abnormality	GPathogenic
Select item 1704226	NM_138364.4(PRMT9):c.576-2A>G	PRMT9	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental abnormality	GPathogenic
Select item 1704225	NM_138364.4(PRMT9):c.565G>A (p.Gly189Arg)	PRMT9 (G189R +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental abnormality	GPathogenic
Select item 1704224	NM_138364.4(PRMT9):c.106_107del (p.Leu36fs)	PRMT9 (L36fs)	Deletion (5 prime UTR variant +1 more)	Neurodevelopmental abnormality	GPathogenic
Select item 1698720	NM_000719.7(CACNA1C):c.583T>A (p.Trp195Arg)	CACNA1C (W195R)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GUncertain significance
Select item 1691258	NM_000520.6(HEXA):c.875C>T (p.Pro292Leu)	HEXA (P292L +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental abnormality	GUncertain significance
Select item 1684043	NM_197968.4(ZMYM2):c.3411T>G (p.Tyr1137Ter)	ZMYM2 (Y1050* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental abnormality +1 more	GLikely pathogenic
Select item 1321154	NM_015015.3(KDM4B):c.454G>A (p.Gly152Arg)	KDM4B (G152R)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GUncertain significance
Select item 1308651	NM_001367943.1(TCF7L2):c.1197del (p.Tyr400fs)	TCF7L2 (Y217fs +7 more)	Deletion (frameshift variant)	Neurodevelopmental abnormality	GLikely pathogenic
Select item 1302003	NM_000135.4(FANCA):c.3408+1G>T	FANCA, LOC132090450	Single nucleotide variant (splice donor variant)	Neurodevelopmental abnormality	GLikely pathogenic
Select item 1301867	NM_013275.6(ANKRD11):c.6349_6362del (p.Pro2117fs)	ANKRD11 (P2117fs)	Deletion (frameshift variant)	Neutropenia +1 more	GLikely pathogenic
Select item 1301865	NM_001127222.2(CACNA1A):c.1914-1G>A	CACNA1A	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental abnormality	GLikely pathogenic
Select item 1300231	NM_133433.4(NIPBL):c.-457_-456delinsAT	NIPBL	Indel (5 prime UTR variant)	Neurodevelopmental abnormality	GLikely pathogenic
Select item 985315	NM_006521.6(TFE3):c.560C>T (p.Thr187Met)	TFE3 (T187M +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies +3 more	GPathogenic/Likely pathogenic
Select item 984624	NM_016955.4(SEPSECS):c.114+3A>G	LOC129992330, SEPSECS	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 984623	NM_015338.6(ASXL1):c.3583dup (p.Gln1195fs)	ASXL1 (Q1134fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental abnormality	GPathogenic
Select item 984622	NM_006766.5(KAT6A):c.5101C>T (p.Pro1701Ser)	KAT6A (P1701S)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely benign
Select item 984621	NM_152641.4(ARID2):c.1630G>C (p.Glu544Gln)	ARID2 (E544Q)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely benign
Select item 984620	NM_030948.6(PHACTR1):c.1000G>T (p.Val334Phe)	PHACTR1 (V242F +4 more)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely benign
Select item 984619	NM_017780.4(CHD7):c.6070C>G (p.Arg2024Gly)	CHD7 (R2024G)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental abnormality	GLikely benign
Select item 984618	NM_006164.5(NFE2L2):c.1033G>C (p.Gly345Arg)	NFE2L2 (G245R +5 more)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely benign
Select item 984617	NM_001363066.2(CLDN5):c.164T>C (p.Val55Ala)	CLDN5 (V140A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GUncertain significance
Select item 984616	NM_001673.5(ASNS):c.239A>G (p.Asn80Ser)	ASNS, CZ1P-ASNS (N59S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 984615	NM_019023.5(PRMT7):c.148C>T (p.Gln50Ter)	PRMT7 (P17L +1 more)	Single nucleotide variant (nonsense +4 more)	Neurodevelopmental abnormality	GPathogenic
Select item 984614	NM_012199.5(AGO1):c.569T>C (p.Leu190Pro)	AGO1 (L115P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 984613	NM_170606.3(KMT2C):c.8649del (p.Arg2884fs)	KMT2C (R2884fs)	Deletion (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 984612	NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys)	GRIA3 (E700K)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94 +1 more	GConflicting classifications of pathogenicity
Select item 984611	NM_002430.3(MN1):c.2986G>C (p.Gly996Arg)	MN1 (G996R)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely benign
Select item 984610	NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])	AUTS2	Deletion (inframe_deletion)	See cases +3 more	GConflicting classifications of pathogenicity
Select item 984609	NM_003036.4(SKI):c.91T>G (p.Ser31Ala)	SKI (S31A)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely pathogenic
Select item 984608	NM_001348716.2(KDM6B):c.403C>T (p.Arg135Ter)	KDM6B (R135*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 984607	NM_006236.3(POU3F3):c.1480G>T (p.Gly494Trp)	POU3F3 (G494W)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely benign
Select item 984606	NM_015215.4(CAMTA1):c.4355G>T (p.Ser1452Ile)	CAMTA1 (S1309I +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely benign
Select item 984605	NM_182961.4(SYNE1):c.22042C>G (p.Gln7348Glu)	SYNE1 (Q7277E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 984604	NM_022124.6(CDH23):c.1339A>G (p.Lys447Glu)	CDH23 (K447E)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +2 more	GUncertain significance
Select item 984603	NM_001367943.1(TCF7L2):c.875+1G>C	TCF7L2	Single nucleotide variant (splice donor variant)	Neurodevelopmental abnormality	GUncertain significance
Select item 984602	NM_001303052.2(MYT1L):c.2188del (p.His730fs)	MYT1L (H728fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental abnormality	GPathogenic
Select item 984601	NM_006885.4(ZFHX3):c.320C>A (p.Pro107His)	ZFHX3 (P107H)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental abnormality	GLikely benign
Select item 984600	NM_020928.2(ZSWIM6):c.2569G>A (p.Glu857Lys)	ZSWIM6 (E857K)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely benign
Select item 984599	NM_024496.4(IRF2BPL):c.731del (p.Gly244fs)	IRF2BPL (G244fs)	Deletion (frameshift variant)	Neurodevelopmental abnormality	GUncertain significance
Select item 984598	NM_002831.5(PTPN6):c.845_854delTTGACCACAG	PTPN6	Deletion	Neurodevelopmental abnormality	GUncertain significance
Select item 984597	NM_001375584.1(SMG7):c.2403G>A (p.Trp801Ter)	SMG7 (W755* +4 more)	Single nucleotide variant (nonsense)	Neurodevelopmental abnormality	GUncertain significance
Select item 984596	NM_004975.4(KCNB1):c.2008C>T (p.Arg670Ter)	KCNB1 (R670*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 984595	NM_000719.7(CACNA1C):c.1529A>G (p.Asn510Ser)	CACNA1C (N507S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely benign
Select item 984594	NM_001128159.3(VPS53):c.1247C>A (p.Pro416Gln)	VPS53 (P218Q +2 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2E	GUncertain significance
Select item 984593	NM_021072.4(HCN1):c.1845C>G (p.Asn615Lys)	HCN1 (N615K)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GUncertain significance
Select item 984592	NM_015001.3(SPEN):c.2417_2418dup (p.Arg807fs)	SPEN (R807fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 984591	NM_032538.3(TTBK1):c.735+1G>T	TTBK1	Single nucleotide variant (splice donor variant)	Neurodevelopmental abnormality	GLikely benign
Select item 984590	NM_022893.4(BCL11A):c.431A>G (p.His144Arg)	BCL11A (H144R)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental abnormality	GLikely benign
Select item 984589	NM_001854.4(COL11A1):c.3304G>A (p.Gly1102Arg)	COL11A1 (G1063R +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental abnormality	GLikely benign
Select item 984588	NM_001270.4(CHD1):c.530A>G (p.Glu177Gly)	CHD1 (E177G)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental abnormality	GLikely benign
Select item 984587	NM_001378414.1(HDAC4):c.2011C>T (p.Gln671Ter)	HDAC4 (Q666* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental abnormality	GUncertain significance
Select item 984586	NM_003590.5(CUL3):c.827_828del (p.Ile276fs)	CUL3 (I210fs +2 more)	Microsatellite (frameshift variant)	Neurodevelopmental abnormality	GLikely pathogenic
Select item 984585	NM_182641.4(BPTF):c.3474C>A (p.Asn1158Lys)	BPTF (N1158K +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely benign
Select item 984584	NM_005445.4(SMC3):c.1121A>C (p.Asp374Ala)	SMC3 (D374A)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely benign
Select item 984583	NM_005334.3(HCFC1):c.5945G>A (p.Arg1982His)	HCFC1 (R1982H)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GUncertain significance
Select item 984582	NM_020338.4(ZMIZ1):c.253C>T (p.Arg85Ter)	ZMIZ1 (R85*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 984581	NM_018297.4(NGLY1):c.982C>T (p.Arg328Cys)	NGLY1 (R286C +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation 1	GLikely pathogenic
Select item 984580	NM_078480.3(PUF60):c.1673_1674del (p.Ser558fs)	PUF60 (S498fs +9 more)	Microsatellite (frameshift variant)	PUF60-related disorder	GUncertain significance
Select item 984579	NM_078629.4(MSL3):c.1171+1G>A	MSL3 (S391N)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental abnormality	GPathogenic
Select item 984578	NM_017649.5(CNNM2):c.1111G>C (p.Val371Leu)	CNNM2 (V371L)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GUncertain significance
Select item 984577	NM_004608.4(TBX6):c.656G>A (p.Arg219His)	TBX6 (R219H)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GUncertain significance
Select item 984576	NM_205768.3(ZBTB18):c.1373A>G (p.Tyr458Cys)	ZBTB18 (Y449C +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely pathogenic
Select item 984575	NM_000284.4(PDHA1):c.5G>C (p.Arg2Thr)	PDHA1 (R2T)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely benign
Select item 984574	NM_020822.3(KCNT1):c.452A>G (p.Gln151Arg)	KCNT1 (Q103R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely benign
Select item 984573	NM_006445.4(PRPF8):c.5594G>C (p.Arg1865Thr)	PRPF8 (R1865T)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GUncertain significance
Select item 984572	NM_001372066.1(TFAP2A):c.1320del (p.Ter440TrpextTer?)	TFAP2A	Deletion (frameshift variant +1 more)	Neurodevelopmental abnormality	GUncertain significance
Select item 984571	NM_001371928.1(AHDC1):c.1003G>A (p.Asp335Asn)	AHDC1 (D335N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 984570	NM_003128.3(SPTBN1):c.5216G>A (p.Arg1739Gln)	SPTBN1 (R1726Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely benign
Select item 984569	NM_001127644.2(GABRA1):c.1315T>C (p.Trp439Arg)	GABRA1 (W439R)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely benign
Select item 984568	NM_145204.4(SENP8):c.606G>A (p.Trp202Ter)	SENP8 (W202*)	Single nucleotide variant (nonsense)	Neurodevelopmental abnormality	GUncertain significance
Select item 984567	NM_022835.3(PLEKHG2):c.3257A>G (p.Asp1086Gly)	PLEKHG2 (D1027G +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental abnormality	GLikely benign
Select item 984566	NM_001376.5(DYNC1H1):c.8574C>G (p.Phe2858Leu)	DYNC1H1 (F2858L)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely benign
Select item 984565	NM_001999.4(FBN2):c.3848-1G>A	FBN2	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental abnormality	GLikely benign
Select item 984564	NM_001348768.2(HECW2):c.1496A>G (p.Asp499Gly)	HECW2 (D143G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely benign
Select item 984563	NM_001134382.3(IQSEC1):c.2764G>A (p.Gly922Arg)	IQSEC1 (G1030R +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental abnormality	GLikely benign
Select item 984562	NM_019108.4(SMG9):c.1177C>T (p.Gln393Ter)	SMG9 (Q393*)	Single nucleotide variant (nonsense)	Heart and brain malformation syndrome +1 more	GPathogenic
Select item 984561	NM_005157.6(ABL1):c.929C>T (p.Pro310Leu)	ABL1 (P310L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GLikely benign

<< First< Prev

Page of 2