ClinVar (all) for Orgtrack (Select 506429) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2499990	NM_017780.4(CHD7):c.122T>C (p.Met41Thr)	CHD7 (M41T)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2499989	NM_001349338.3(FOXP1):c.1429-1G>T	FOXP1, LOC126806714	Single nucleotide variant (splice acceptor variant)	See cases	GLikely pathogenic
Select item 1727259	NM_006908.5(RAC1):c.184G>A (p.Glu62Lys)	RAC1 (E62K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 48	GPathogenic
Select item 1727258	NM_006908.5(RAC1):c.475G>A (p.Ala159Thr)	RAC1 (A178T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 48	GPathogenic
Select item 1697213	NM_001659.3(ARF3):c.379A>G (p.Lys127Glu)	ARF3 (K127E)	Single nucleotide variant (missense variant)	Hypotonia +6 more	GPathogenic
Select item 1697212	NM_001659.3(ARF3):c.277G>A (p.Asp93Asn)	ARF3 (D93N)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +17 more	GPathogenic/Likely pathogenic
Select item 1697211	NM_001659.3(ARF3):c.200A>T (p.Asp67Val)	ARF3 (D67V)	Single nucleotide variant (missense variant)	Microcephaly +4 more	GPathogenic
Select item 1697210	NM_001659.3(ARF3):c.139C>T (p.Pro47Ser)	ARF3 (P47S)	Single nucleotide variant (missense variant)	Seizure +3 more	GConflicting classifications of pathogenicity
Select item 1697209	NM_001659.3(ARF3):c.95C>A (p.Thr32Asn)	ARF3 (T32N)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GPathogenic
Select item 1697208	NM_001659.3(ARF3):c.34C>G (p.Leu12Val)	ARF3 (L12V)	Single nucleotide variant (missense variant)	Microcephaly +4 more	GLikely pathogenic
Select item 1691098	NM_004521.3(KIF5B):c.1493T>C (p.Leu498Pro)	KIF5B (L498P)	Single nucleotide variant (missense variant)	Feeding difficulties +3 more	GPathogenic
Select item 1691097	NM_004521.3(KIF5B):c.1610T>C (p.Leu537Pro)	KIF5B (L537P)	Single nucleotide variant (missense variant)	Seizure +5 more	GPathogenic
Select item 1339314	NM_007373.4(SHOC2):c.157G>A (p.Gly53Arg)	SHOC2 (G53R)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1	GLikely pathogenic
Select item 1333718	NM_002834.5(PTPN11):c.793C>G (p.Arg265Gly)	PTPN11 (R264G +1 more)	Single nucleotide variant (missense variant)	Werner syndrome	Grisk factor
Select item 1321186	NM_176795.5(HRAS):c.488_497del (p.Leu163fs)	HRAS, LRRC56 (L163fs +1 more)	Deletion (frameshift variant +1 more)	Costello syndrome	GPathogenic/Likely pathogenic
Select item 1209658	NM_181784.3(SPRED2):c.299T>C (p.Leu100Pro)	SPRED2 (L100P +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic
Select item 1209657	NM_181784.3(SPRED2):c.1142_1143del (p.Leu381fs)	SPRED2 (L378fs +1 more)	Deletion (frameshift variant)	Noonan syndrome	GPathogenic
Select item 992624	NM_015001.3(SPEN):c.10953dup (p.Asn3652fs)	SPEN (N3652fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 992623	NM_015001.3(SPEN):c.10909_10910del (p.His3638fs)	SPEN (H3638fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 992622	NM_015001.3(SPEN):c.9950dup (p.Ala3318fs)	SPEN (A3318fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 992621	NM_015001.3(SPEN):c.7492del (p.Lys2497_Val2498insTer)	SPEN	Deletion (nonsense)	not provided	GPathogenic
Select item 992620	NM_015001.3(SPEN):c.7374_7381del (p.Val2459fs)	SPEN (V2459fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 992619	NM_015001.3(SPEN):c.7373del (p.Pro2458fs)	SPEN (P2458fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 992618	NM_015001.3(SPEN):c.7338_7339dup (p.Arg2447fs)	SPEN (R2447fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 992617	NM_015001.3(SPEN):c.7328del (p.Glu2443fs)	SPEN (E2443fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 992616	NM_015001.3(SPEN):c.7324G>T (p.Glu2442Ter)	SPEN (E2442*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 992615	NM_015001.3(SPEN):c.7024C>T (p.Arg2342Ter)	SPEN (R2342*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 992614	NM_015001.3(SPEN):c.6799G>T (p.Glu2267Ter)	SPEN (E2267*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 992613	NM_015001.3(SPEN):c.6570dup (p.Lys2191Ter)	SPEN (K2191*)	Duplication (nonsense)	not provided	GPathogenic
Select item 992612	NM_015001.3(SPEN):c.6223_6227del (p.Ser2075fs)	SPEN (S2075fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 992611	NM_015001.3(SPEN):c.6087_6088del (p.Glu2029fs)	SPEN (E2029fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 992610	NM_015001.3(SPEN):c.6226_6227del (p.Lys2076fs)	SPEN (K2076fs)	Deletion (frameshift variant)	Radio-Tartaglia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 992609	NM_015001.3(SPEN):c.6058C>T (p.Gln2020Ter)	SPEN (Q2020*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 992608	NM_015001.3(SPEN):c.5392C>T (p.Gln1798Ter)	SPEN (Q1798*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 992607	NM_015001.3(SPEN):c.5013_5017del (p.Glu1671fs)	SPEN (E1671fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 992606	NM_015001.3(SPEN):c.3508C>T (p.Arg1170Ter)	SPEN (R1170*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 992605	NM_015001.3(SPEN):c.3199C>T (p.Gln1067Ter)	SPEN (Q1067*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 992604	NM_015001.3(SPEN):c.3029dup (p.Asp1011fs)	SPEN (D1011fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 992603	NM_015001.3(SPEN):c.2956_2959dup (p.Arg987fs)	SPEN (R987fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 992602	NM_015001.3(SPEN):c.2269_2272dup (p.Arg758fs)	SPEN (R758fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 992601	NM_015001.3(SPEN):c.2101G>T (p.Glu701Ter)	SPEN (E701*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 992600	NM_015001.3(SPEN):c.2014C>T (p.Arg672Ter)	SPEN (R672*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 992599	NM_015001.3(SPEN):c.1603C>T (p.Arg535Ter)	SPEN (R535*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 992344	NM_015001.3(SPEN):c.5806C>T (p.Arg1936Ter)	SPEN (R1936*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 986389	NM_004521.3(KIF5B):c.762CAA[1] (p.Asn255del)	KIF5B (N255del)	Microsatellite (inframe_deletion)	Primary dilated cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 986085	NM_015001.3(SPEN):c.6974_6975del (p.Leu2325fs)	SPEN (L2325fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 985476	NM_015001.3(SPEN):c.6641_6642del (p.Glu2214fs)	SPEN (E2214fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 985376	NM_015001.3(SPEN):c.3793C>T (p.Arg1265Ter)	SPEN (R1265*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 981662	NM_152753.4(SCUBE3):c.2785C>T (p.Arg929Ter)	SCUBE3 (R928* +1 more)	Single nucleotide variant (nonsense)	Short stature +3 more	GPathogenic
Select item 981661	NM_152753.4(SCUBE3):c.2599+2T>C	SCUBE3	Single nucleotide variant (splice donor variant)	Abnormal facial shape +3 more	GPathogenic
Select item 981660	NM_152753.4(SCUBE3):c.2444T>C (p.Ile815Thr)	SCUBE3 (I814T +1 more)	Single nucleotide variant (missense variant)	Short stature +4 more	GPathogenic/Likely pathogenic
Select item 981659	NM_152753.4(SCUBE3):c.2239+1G>A	LOC126859661, SCUBE3	Single nucleotide variant (splice donor variant)	Abnormal facial shape +3 more	GPathogenic
Select item 981658	NM_152753.4(SCUBE3):c.1717C>T (p.Arg573Ter)	SCUBE3 (R572* +1 more)	Single nucleotide variant (nonsense)	Short stature +3 more	GPathogenic
Select item 981657	NM_152753.4(SCUBE3):c.829+3_952+2del	SCUBE3, LOC123620094	Deletion (splice acceptor variant +1 more)	Short stature +3 more	GPathogenic
Select item 981656	NM_152753.4(SCUBE3):c.611G>A (p.Gly204Asp)	SCUBE3 (G203D +1 more)	Single nucleotide variant (missense variant)	Short stature +3 more	GPathogenic
Select item 981655	NM_152753.4(SCUBE3):c.291C>G (p.Cys97Trp)	SCUBE3 (C97W)	Single nucleotide variant (missense variant)	Short stature +3 more	GPathogenic
Select item 976852	NM_013245.3(VPS4A):c.616G>A (p.Glu206Lys)	VPS4A (E206K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 976851	NM_013245.3(VPS4A):c.850A>G (p.Arg284Gly)	VPS4A (R284G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 976850	NM_013245.3(VPS4A):c.850A>T (p.Arg284Trp)	VPS4A (R284W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 974617	NM_001286.5(CLCN6):c.1658A>G (p.Tyr553Cys)	CLCN6 (Y531C +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities +12 more	GConflicting classifications of pathogenicity
Select item 917749	NM_002745.5(MAPK1):c.968C>G (p.Pro323Arg)	MAPK1 (P323R)	Single nucleotide variant (missense variant)	Specific learning disability +5 more	GPathogenic
Select item 917748	NM_002745.5(MAPK1):c.964G>C (p.Glu322Gln)	MAPK1 (E322Q)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 917746	NM_002745.5(MAPK1):c.953A>G (p.Asp318Gly)	MAPK1 (D318G)	Single nucleotide variant (missense variant)	Specific learning disability +5 more	GPathogenic
Select item 917745	NM_002745.5(MAPK1):c.952G>A (p.Asp318Asn)	MAPK1 (D318N)	Single nucleotide variant (missense variant)	Specific learning disability +4 more	GPathogenic
Select item 917744	NM_002745.5(MAPK1):c.521C>T (p.Ala174Val)	MAPK1 (A174V)	Single nucleotide variant (missense variant)	Macrocephaly +5 more	GPathogenic
Select item 917743	NM_002745.5(MAPK1):c.238C>T (p.His80Tyr)	MAPK1 (H80Y)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 917742	NM_002745.5(MAPK1):c.221T>A (p.Ile74Asn)	MAPK1 (I74N)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 915476	NM_003336.4(UBE2A):c.283C>T (p.Arg95Cys)	UBE2A (R95C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 915475	NM_003336.4(UBE2A):c.184G>A (p.Glu62Lys)	UBE2A (E29K +1 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Nascimento type	GUncertain significance
Select item 915474	NM_003336.4(UBE2A):c.242-3_244del	UBE2A	Deletion (splice acceptor variant)	Syndromic X-linked intellectual disability Nascimento type	GLikely pathogenic
Select item 915473	NM_003336.4(UBE2A):c.299ATG[1] (p.Asp101del)	UBE2A (D68del +2 more)	Microsatellite (inframe_deletion)	Syndromic X-linked intellectual disability Nascimento type	GLikely pathogenic
Select item 915472	NM_003336.4(UBE2A):c.295A>G (p.Thr99Ala)	UBE2A (T99A +2 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Nascimento type	GUncertain significance
Select item 635261	NM_005321.3(H1-4):c.464dup (p.Lys157fs)	H1-4 (K157fs)	Duplication (frameshift variant)	Neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 635260	NM_005321.3(H1-4):c.447dup (p.Ser150fs)	H1-4 (S150fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 635259	NM_005321.3(H1-4):c.425delinsAG (p.Thr142fs)	H1-4 (T142fs)	Indel (frameshift variant)	Rahman syndrome	GPathogenic
Select item 635258	NM_005321.3(H1-4):c.425_431delinsAGGGGGTT (p.Thr142fs)	H1-4 (T142fs)	Indel (frameshift variant)	Rahman syndrome	GPathogenic
Select item 635257	NM_005321.3(H1-4):c.414dup (p.Lys139fs)	H1-4 (K139fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 635256	NM_005321.3(H1-4):c.408dup (p.Lys137fs)	H1-4 (K137fs)	Duplication (frameshift variant)	Rahman syndrome +1 more	GPathogenic/Likely pathogenic
Select item 626913	NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup)	LOC130005368, RRAS2	Duplication (intron variant +1 more)	Noonan syndrome 12 +3 more	GPathogenic
Select item 626912	NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr)	RRAS2 (A35T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	RRAS2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 626911	NM_012250.6(RRAS2):c.68G>T (p.Gly23Val)	LOC130005368, RRAS2 (G23V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 626910	NM_012250.6(RRAS2):c.65_73dup (p.Gly22_Gly24dup)	LOC130005368, RRAS2	Duplication (inframe_insertion +1 more)	Noonan syndrome	GPathogenic
Select item 589444	NM_003336.4(UBE2A):c.403C>T (p.Arg135Trp)	UBE2A (R135W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 560222	NM_033310.3(KCNK4):c.730G>C (p.Ala244Pro)	KCNK4, KCNK4-CATSPERZ (A244P)	Single nucleotide variant (non-coding transcript variant +1 more)	Abnormal facial shape +4 more	GPathogenic
Select item 560221	NM_033310.3(KCNK4):c.515C>A (p.Ala172Glu)	KCNK4, KCNK4-CATSPERZ (A172E)	Single nucleotide variant (non-coding transcript variant +1 more)	Abnormal facial shape +5 more	GPathogenic/Likely pathogenic
Select item 549572	NM_007055.4(POLR3A):c.3392A>G (p.Lys1131Arg)	POLR3A (K1131R)	Single nucleotide variant (missense variant)	Leukodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 549571	NM_007055.4(POLR3A):c.3874G>A (p.Asp1292Asn)	POLR3A (D1292N)	Single nucleotide variant (missense variant)	POLR3A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 549570	NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg)	POLR3A (G1335R)	Single nucleotide variant (missense variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +1 more	GConflicting classifications of pathogenicity
Select item 549566	NM_007055.4(POLR3A):c.2707G>A (p.Gly903Arg)	POLR3A (G903R)	Single nucleotide variant (missense variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +1 more	GConflicting classifications of pathogenicity
Select item 549565	NM_007055.4(POLR3A):c.3G>T (p.Met1Ile)	POLR3A (M1I)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GPathogenic/Likely pathogenic
Select item 549564	NM_007055.4(POLR3A):c.*18C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +1 more	GConflicting classifications of pathogenicity
Select item 549563	NM_007055.4(POLR3A):c.3772_3773del (p.Leu1258fs)	POLR3A (L1258fs)	Microsatellite (frameshift variant)	Neonatal pseudo-hydrocephalic progeroid syndrome	GLikely pathogenic
Select item 549562	NM_007055.4(POLR3A):c.1800C>T (p.Ile600=)	POLR3A	Single nucleotide variant (synonymous variant)	Neonatal pseudo-hydrocephalic progeroid syndrome	GLikely pathogenic
Select item 549561	NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter)	POLR3A (S825*)	Single nucleotide variant (nonsense)	Neonatal pseudo-hydrocephalic progeroid syndrome	GLikely pathogenic
Select item 549560	NM_007055.4(POLR3A):c.1048+5G>T	POLR3A	Single nucleotide variant (intron variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +1 more	GPathogenic/Likely pathogenic
Select item 549559	NM_007055.4(POLR3A):c.3337-11T>C	POLR3A	Single nucleotide variant (intron variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +2 more	GPathogenic/Likely pathogenic
Select item 549558	NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln)	POLR3A, LOC126860970 (R1069Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 487654	NM_001791.4(CDC42):c.511G>A (p.Glu171Lys)	CDC42 (E171K)	Single nucleotide variant (missense variant)	Noonan-like syndrome	GPathogenic
Select item 487653	NM_001791.4(CDC42):c.476C>T (p.Ala159Val)	CDC42 (A159V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 487652	NM_001791.4(CDC42):c.247T>C (p.Ser83Pro)	CDC42 (S83P)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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