ClinVar for MedGen (Select 107838) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2571640	NM_139321.3(ATRN):c.396C>G (p.Cys132Trp)	ATRN (C132W)	Single nucleotide variant (missense variant +1 more)	Autism +2 more	GUncertain significance
Select item 2444456	NM_007126.5(VCP):c.1874G>C (p.Arg625Pro)	VCP (R580P +1 more)	Single nucleotide variant (missense variant)	Global developmental delay	GPathogenic
Select item 2429474	NM_020759.3(STARD9):c.7008del (p.Pro2336_Leu2337insTer)	STARD9	Deletion (frameshift variant)	Seizure +1 more	GUncertain significance
Select item 1810280	NM_001367721.1(CASK):c.2678C>A (p.Thr893Lys)	CASK (T864K +4 more)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 1810279	NM_006772.3(SYNGAP1):c.821T>A (p.Leu274Gln)	SYNGAP1, SYNGAP1-AS1 (L274Q)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 1810278	NM_032271.3(TRAF7):c.788A>C (p.Lys263Thr)	TRAF7 (K263T)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 1804154	NM_001470.4(GABBR1):c.2018G>A (p.Gly673Asp)	GABBR1 (G496D +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 1804153	NM_001470.4(GABBR1):c.1104G>C (p.Glu368Asp)	GABBR1 (E191D +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 1804152	NM_001470.4(GABBR1):c.1603G>A (p.Ala535Thr)	GABBR1 (A358T +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 1804147	NM_001470.4(GABBR1):c.1190C>T (p.Ala397Val)	GABBR1 (A220V +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +5 more	GLikely pathogenic
Select item 1804069	NM_207037.2(TCF12):c.381del (p.Gly128fs)	TCF12 (G128fs +2 more)	Deletion (frameshift variant +1 more)	Global developmental delay +1 more	GLikely pathogenic
Select item 1804057	NM_003601.4(SMARCA5):c.2677G>A (p.Glu893Lys)	SMARCA5 (E893K)	Single nucleotide variant (missense variant)	Pes planus +3 more	GPathogenic
Select item 1804042	NM_144643.4(SCLT1):c.1043del (p.Ser348fs)	SCLT1 (S348fs)	Deletion (frameshift variant)	Hamartoma of hypothalamus +5 more	GPathogenic
Select item 1804041	NM_144643.4(SCLT1):c.2060dup (p.Asn687fs)	SCLT1 (N687fs)	Duplication (frameshift variant)	Hamartoma of hypothalamus +5 more	GLikely pathogenic
Select item 1804039	NM_003571.4(BFSP2):c.449G>A (p.Trp150Ter)	BFSP2 (W150*)	Single nucleotide variant (nonsense)	Strabismus +6 more	GPathogenic
Select item 1804031	NM_002804.5(PSMC3):c.910C>T (p.Arg304Trp)	PSMC3 (R304W)	Single nucleotide variant (missense variant)	Microcephaly +11 more	GPathogenic
Select item 1803962	NM_001374736.1(DST):c.5850del (p.Pro1950_Val1951insTer)	DST	Deletion (frameshift variant +1 more)	Hypotonia +3 more	GPathogenic
Select item 1802600	NM_017777.4(MKS1):c.[1115_1117del;1476T>G]	MKS1 (C492W +3 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 1802172	NM_000243.3(MEFV):c.[2080A>G];[2177T>C]			Familial Mediterranean fever	GPathogenic
Select item 1801706	NM_033109.5(PNPT1):c.1514C>T (p.Ala505Val)	PNPT1 (A505V)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 1801705	NM_033109.5(PNPT1):c.1849C>T (p.Arg617Ter)	PNPT1 (R617*)	Single nucleotide variant (nonsense)	Global developmental delay	GLikely pathogenic
Select item 1801704	NM_182931.3(KMT2E):c.2881_2882del (p.Lys961fs)	KMT2E (K961fs)	Deletion (frameshift variant)	O'Donnell-Luria-Rodan syndrome +1 more	GLikely pathogenic
Select item 1801703	NM_004974.4(KCNA2):c.928C>G (p.His310Asp)	KCNA2 (H310D)	Single nucleotide variant (missense variant +1 more)	Global developmental delay	GLikely pathogenic
Select item 1801702	NM_004859.4(CLTC):c.4893dup (p.Ile1632fs)	CLTC (I1632fs +1 more)	Duplication (frameshift variant)	Global developmental delay	GLikely pathogenic
Select item 1801701	NM_001374828.1(ARID1B):c.2728del (p.Tyr910fs)	ARID1B (Y77fs +2 more)	Deletion (frameshift variant)	Global developmental delay	GLikely pathogenic
Select item 1801700	NM_017635.5(KMT5B):c.919T>C (p.Tyr307His)	KMT5B (Y135H +4 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay	GUncertain significance
Select item 1711732	NM_181675.4(PPP2R2B):c.1280T>C (p.Ile427Thr)	CTB-99A3.1, PPP2R2B (I407T +6 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay	GUncertain significance
Select item 1710149	NM_201599.3(ZMYM3):c.1322G>A (p.Arg441Gln)	ZMYM3 (R441Q)	Single nucleotide variant (missense variant)	Abnormal facial shape +3 more	GUncertain significance
Select item 1708398	NM_013275.6(ANKRD11):c.7979T>C (p.Leu2660Ser)	ANKRD11 (L2660S)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 1708397	NM_001385012.1(NBEA):c.2322G>T (p.Lys774Asn)	NBEA (K774N)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 1708348	NM_014516.4(CNOT3):c.1941dup (p.Tyr648fs)	CNOT3 (Y648fs)	Duplication (frameshift variant)	Global developmental delay	GPathogenic
Select item 1708345	NM_001042681.2(RERE):c.3428C>G (p.Ser1143Trp)	RERE (S1143W +1 more)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 1708298	NM_001080517.3(SETD5):c.1029del (p.Phe343fs)	SETD5 (F245fs +1 more)	Deletion (frameshift variant)	Global developmental delay	GPathogenic
Select item 1708296	NM_003076.5(SMARCD1):c.494G>A (p.Arg165Gln)	SMARCD1 (R165Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1708272	NM_000829.4(GRIA4):c.1918G>A (p.Ala640Thr)	GRIA4 (A640T)	Single nucleotide variant (missense variant +1 more)	Global developmental delay	GLikely pathogenic
Select item 1706640	NM_032199.3(ARID5B):c.1302del (p.Asn434fs)	ARID5B (N191fs +1 more)	Deletion (frameshift variant)	Blue sclerae +7 more	GUncertain significance
Select item 1706572	NM_001127222.2(CACNA1A):c.1334_1335dup (p.Ala446Ter)	CACNA1A (A446* +1 more)	Microsatellite (nonsense)	Episodic ataxia type 2 +2 more	GPathogenic/Likely pathogenic
Select item 1706570	NM_052988.5(CDK10):c.872G>A (p.Trp291Ter)	CDK10 (W220* +1 more)	Single nucleotide variant (nonsense +1 more)	Global developmental delay	GPathogenic
Select item 1705887	GRCh37/hg19 Xq13.1(chrX:70471276-70510697)x0	NONO, ZMYM3	Copy number loss	Global developmental delay	GUncertain significance
Select item 1705884	GRCh37/hg19 Xp11.22(chrX:53557335-53622734)x2	HUWE1, MIR98 +1 more	Copy number gain	Global developmental delay	GUncertain significance
Select item 1705883	GRCh37/hg19 16q12.2(chr16:55103496-56391061)x1	AMFR, CAPNS2 +7 more	Copy number loss	Global developmental delay	GPathogenic
Select item 1705881	GRCh37/hg19 5p15.33(chr5:26141-2537457)x3	NDUFS6, NKD2 +24 more	Copy number gain	Global developmental delay	GUncertain significance
Select item 1705880	GRCh37/hg19 Xp22.31(chrX:6467006-8131810)x3	PNPLA4, PUDP +4 more	Copy number gain	Global developmental delay	GLikely benign
Select item 1703660	GRCh37/hg19 4p16.3(chr4:68345-1512353)	CRIPAK, CTBP1 +23 more	Copy number loss	Global developmental delay	GLikely pathogenic
Select item 1703659	GRCh37/hg19 Yp11.32-q12(chrY:1-59373566)	NLGN4Y, PCDH11Y +82 more	Copy number gain	Global developmental delay	GPathogenic
Select item 1703577	GRCh37/hg19 Xq28(chrX:152815772-153624215)	ABCD1, ARHGAP4 +26 more	Copy number gain	Global developmental delay	GPathogenic
Select item 1703006	NM_004446.3(EPRS1):c.635T>C (p.Ile212Thr)	EPRS1 (I212T)	Single nucleotide variant (missense variant)	Global developmental delay	GPathogenic
Select item 1700607	NM_014921.5(ADGRL1):c.1022A>G (p.Tyr341Cys)	ADGRL1, ADGRL1-AS1 (Y341C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GLikely pathogenic
Select item 1700606	NM_014921.5(ADGRL1):c.3517C>T (p.Arg1173Ter)	ADGRL1, ADGRL1-AS1 (R1173* +1 more)	Single nucleotide variant (nonsense)	Specific learning disability +2 more	GPathogenic
Select item 1700605	NM_014921.5(ADGRL1):c.2049dup (p.Glu684fs)	ADGRL1, ADGRL1-AS1 (E684fs +1 more)	Duplication (frameshift variant)	Seizure +3 more	GPathogenic
Select item 1700604	NM_014921.5(ADGRL1):c.3476C>T (p.Ser1159Phe)	ADGRL1, ADGRL1-AS1 (S1159F +1 more)	Single nucleotide variant (missense variant)	Seizure +3 more	GPathogenic
Select item 1700602	NM_014921.5(ADGRL1):c.819G>A (p.Trp273Ter)	ADGRL1, ADGRL1-AS1 (W273* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability +3 more	GPathogenic
Select item 1700601	NM_014921.5(ADGRL1):c.3391C>T (p.Arg1131Ter)	ADGRL1, ADGRL1-AS1 (R1131* +1 more)	Single nucleotide variant (nonsense)	Specific learning disability +1 more	GPathogenic
Select item 1700600	NM_014921.5(ADGRL1):c.3440T>C (p.Met1147Thr)	ADGRL1, ADGRL1-AS1 (M1147T +1 more)	Single nucleotide variant (missense variant)	Global developmental delay	GPathogenic
Select item 1700599	NM_014921.5(ADGRL1):c.2998T>C (p.Trp1000Arg)	ADGRL1, ADGRL1-AS1 (W1000R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +3 more	GPathogenic
Select item 1698936	NM_012309.5(SHANK2):c.4930G>T (p.Glu1644Ter)	SHANK2 (E1056* +2 more)	Single nucleotide variant (nonsense)	Global developmental delay	GPathogenic
Select item 1698500	NM_002693.3(POLG):c.[1760C>T;752C>T]	POLG, POLGARF (T251I +1 more)	Single nucleotide variant (missense variant)	not provided +1 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 1691228	NM_014462.3(LSM1):c.118A>T (p.Asn40Tyr)	LSM1 (N40Y)	Single nucleotide variant (missense variant +1 more)	Global developmental delay	GLikely pathogenic
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 1684525	NM_014974.3(DIP2C):c.4045-2A>G	DIP2C	Single nucleotide variant (splice acceptor variant)	Global developmental delay	GUncertain significance
Select item 1684521	NM_001105539.3(ZBTB10):c.466C>T (p.Arg156Ter)	ZBTB10 (R156*)	Single nucleotide variant (nonsense +1 more)	Astigmatism +7 more	GUncertain significance
Select item 1684511	NM_001290047.2(CECR2):c.2281C>T (p.Arg761Ter)	CECR2 (R598* +1 more)	Single nucleotide variant (nonsense)	Cleft lip +4 more	GUncertain significance
Select item 1684509	NM_001400265.1(MTCL3):c.2332G>C (p.Gly778Arg)	MTCL3, SOGA3-KIAA0408 (G778R)	Single nucleotide variant (non-coding transcript variant +1 more)	Decreased body weight +6 more	GUncertain significance
Select item 1684507	NM_016148.5(SHANK1):c.2149C>T (p.Arg717Ter)	SHANK1 (R717*)	Single nucleotide variant (nonsense)	Cleft palate +4 more	GPathogenic
Select item 1684500	NM_001300860.2(DDX46):c.2819A>G (p.Asn940Ser)	DDX46 (N939S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypospadias +5 more	GUncertain significance
Select item 1684498	NM_001256012.3(MYH10):c.2338C>T (p.Arg780Ter)	MYH10 (R749* +3 more)	Single nucleotide variant (nonsense)	Obesity +4 more	GUncertain significance
Select item 1684497	NM_001306089.2(ZNF236):c.700A>G (p.Lys234Glu)	ZNF236 (K232E +1 more)	Single nucleotide variant (missense variant)	Delayed speech and language development +3 more	GUncertain significance
Select item 1683777	NM_000260.4(MYO7A):c.4827G>A (p.Val1609=)	MYO7A	Single nucleotide variant (synonymous variant)	Microcephaly +3 more	GUncertain significance
Select item 1683776	NM_000260.4(MYO7A):c.3833C>T (p.Thr1278Ile)	MYO7A (T1267I +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +4 more	GUncertain significance
Select item 1683500	NM_000287.4(PEX6):c.1680C>G (p.Pro560=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly +4 more	GUncertain significance
Select item 1679388	NM_005548.3(KARS1):c.256C>T (p.Gln86Ter)	KARS1 (Q114* +1 more)	Single nucleotide variant (nonsense +1 more)	Microcephaly +3 more	GLikely pathogenic
Select item 1679242	NM_001324144.2(ZNF41):c.149G>A (p.Arg50His)	ZNF41 (R50H +4 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability +2 more	GUncertain significance
Select item 1677241	NM_032805.3(ZSCAN10):c.1250C>A (p.Ser417Ter)	ZSCAN10 (S23* +3 more)	Single nucleotide variant (nonsense)	ZSCAN10 Deficiency +2 more	GPathogenic
Select item 1677001	NM_032805.3(ZSCAN10):c.2050del (p.His684fs)	ZSCAN10 (H290fs +3 more)	Deletion (frameshift variant)	ZSCAN10 Deficiency +2 more	GPathogenic
Select item 1676798	NM_001376.5(DYNC1H1):c.12166G>A (p.Glu4056Lys)	DYNC1H1 (E4056K)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 1676797	NM_018249.6(CDK5RAP2):c.134C>T (p.Pro45Leu)	CDK5RAP2 (P45L)	Single nucleotide variant (missense variant +1 more)	Global developmental delay	GUncertain significance
Select item 1676794	NM_018249.6(CDK5RAP2):c.4673G>A (p.Arg1558Gln)	CDK5RAP2 (R1328Q +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay	GUncertain significance
Select item 1676779	NM_020791.4(TAOK1):c.1477C>T (p.Arg493Cys)	TAOK1 (R493C)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 1576461	NM_001291415.2(KDM6A):c.1952C>T (p.Thr651Ile)	KDM6A (T303I +5 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1527867	NM_001367949.2(FAT3):c.1091T>C (p.Ile364Thr)	FAT3 (I364T)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 1504213	NM_004380.3(CREBBP):c.6621_6644del (p.Gln2209_Gln2216del)	CREBBP	Deletion (inframe_deletion)	Rubinstein-Taybi syndrome +1 more	GUncertain significance
Select item 1491718	NM_013432.5(TONSL):c.1571G>A (p.Arg524Gln)	TONSL, TONSL-AS1 (R524Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1343925	NM_001083962.2(TCF4):c.1732C>T (p.Arg578Cys)	TCF4 (R362C +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1338504	NM_015631.6(TCTN3):c.770G>A (p.Arg257His)	TCTN3 (R178H +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1334939	NM_003204.3(NFE2L1):c.1855C>T (p.Arg619Ter)	NFE2L1 (R589* +2 more)	Single nucleotide variant (nonsense)	Global developmental delay	GUncertain significance
Select item 1332907	NM_022552.5(DNMT3A):c.1647C>A (p.Cys549Ter)	DNMT3A (C326* +3 more)	Single nucleotide variant (nonsense +1 more)	Macrocephaly +6 more	GPathogenic
Select item 1332903	NM_173354.5(SIK1):c.1153C>T (p.Arg385Ter)	SIK1 (R385*)	Single nucleotide variant (nonsense)	Language disorder +1 more	GLikely pathogenic
Select item 1332901	NM_001958.5(EEF1A2):c.1029+3G>A	EEF1A2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 33 +3 more	GUncertain significance
Select item 1332886	NM_001959.4(EEF1B2):c.185dup (p.Tyr62Ter)	EEF1B2 (Y62*)	Duplication (nonsense)	Global developmental delay	GPathogenic
Select item 1332885	NM_001959.4(EEF1B2):c.80+1G>C	EEF1B2	Single nucleotide variant (splice donor variant)	Global developmental delay	GPathogenic
Select item 1330275	NM_016263.4(FZR1):c.1126G>A (p.Gly376Ser)	FZR1 (G287S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 109 +5 more	GConflicting classifications of pathogenicity
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	ADCK2, AGBL3 +105 more	Copy number loss	Small face +7 more	GPathogenic
Select item 1330154	NM_003805.5(CRADD):c.503G>A (p.Arg168Gln)	CRADD (R168Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1328942	NM_019040.5(ELP4):c.272A>G (p.Tyr91Cys)	ELP4 (Y91C)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 1328941	NM_019040.5(ELP4):c.886C>A (p.Leu296Ile)	ELP4 (L296I +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 1327422	NM_001161352.2(KCNMA1):c.3619C>A (p.His1207Asn)	KCNMA1 (H1099N +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 1325812	NM_001130021.3(ATP6V0A1):c.53A>T (p.Gln18Leu)	ATP6V0A1 (Q18L)	Single nucleotide variant (missense variant +1 more)	Global developmental delay +1 more	GUncertain significance
Select item 1325768	NM_001330260.2(SCN8A):c.2464G>A (p.Gly822Arg)	SCN8A (G822R)	Single nucleotide variant (missense variant)	Seizure +2 more	GLikely pathogenic
Select item 1325767	NM_001330260.2(SCN8A):c.4079C>A (p.Thr1360Asn)	SCN8A (T1319N +1 more)	Single nucleotide variant (missense variant)	Seizure +2 more	GLikely pathogenic

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