ClinVar for MedGen (Select 163547) - ClinVar - NCBI

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	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 2571641	NM_005428.4(VAV1):c.909del (p.Asp303fs)	VAV1 (D271fs +1 more)	Deletion (frameshift variant)	Anxiety +10 more	GUncertain significance
Select item 2571636	NM_014608.6(CYFIP1):c.1348G>T (p.Ala450Ser)	CYFIP1 (A328S +4 more)	Single nucleotide variant (missense variant +1 more)	Cognitive impairment +5 more	GUncertain significance
Select item 2571631	NM_014608.6(CYFIP1):c.1798T>C (p.Phe600Leu)	CYFIP1 (F169L +6 more)	Single nucleotide variant (missense variant)	Cognitive impairment +6 more	GUncertain significance
Select item 2570679	NM_032538.3(TTBK1):c.367C>T (p.Arg123Ter)	TTBK1 (R123*)	Single nucleotide variant (nonsense)	Autism +5 more	GUncertain significance
Select item 2570678	NM_016642.4(SPTBN5):c.1288C>T (p.Arg430Cys)	SPTBN5 (R430C)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +5 more	GUncertain significance
Select item 2570673	NM_002911.4(UPF1):c.2080C>T (p.Arg694Trp)	UPF1 (R694W +1 more)	Single nucleotide variant (missense variant)	Mild global developmental delay +5 more	GUncertain significance
Select item 2570649	NM_005898.5(CAPRIN1):c.274C>T (p.Gln92Ter)	CAPRIN1 (Q92*)	Single nucleotide variant (nonsense)	Seizure +3 more	GLikely pathogenic
Select item 2537941	NM_016642.4(SPTBN5):c.8419G>A (p.Glu2807Lys)	SPTBN5 (E2807K)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +5 more	GUncertain significance
Select item 1802172	NM_000243.3(MEFV):c.[2080A>G];[2177T>C]			Familial Mediterranean fever	GPathogenic
Select item 1708060	NM_003024.3(ITSN1):c.473del (p.Leu158fs)	ITSN1 (L121fs +1 more)	Deletion (frameshift variant)	Autistic behavior	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 1700603	NM_014921.5(ADGRL1):c.26G>A (p.Trp9Ter)	ADGRL1 (W9*)	Single nucleotide variant (nonsense)	Autistic behavior +1 more	GLikely pathogenic
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 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 1679517	NM_170606.3(KMT2C):c.5416A>G (p.Ile1806Val)	KMT2C (I1806V)	Single nucleotide variant (missense variant)	Autistic behavior	GUncertain significance
Select item 1676801	NM_001005273.3(CHD3):c.5747C>T (p.Pro1916Leu)	CHD3 (P1882L +2 more)	Single nucleotide variant (missense variant)	Autistic behavior	GUncertain significance
Select item 1676800	NM_014159.7(SETD2):c.2888AAG[2] (p.Glu965del)	SETD2 (E921del +1 more)	Microsatellite (inframe_deletion +1 more)	Autistic behavior	GUncertain significance
Select item 1330190	GRCh37/hg19 7p22.1(chr7:5096876-5569338)x1	ACTB, FBXL18 +5 more	Copy number loss	Autistic behavior +4 more	GPathogenic
Select item 1328961	NM_001378120.1(MBD5):c.5102T>A (p.Met1701Lys)	MBD5 (M1468K +1 more)	Single nucleotide variant (missense variant)	Autistic behavior	GLikely benign
Select item 1327421	NM_001003694.2(BRPF1):c.1825C>T (p.Arg609Cys)	BRPF1 (R609C)	Single nucleotide variant (missense variant +1 more)	Autistic behavior +1 more	GUncertain significance
Select item 1297469	NM_001145250.2(SP9):c.1192_1207dup (p.Arg403fs)	SP9 (R403fs)	Duplication (frameshift variant)	Autistic behavior +1 more	GPathogenic
Select item 1297468	NM_001145250.2(SP9):c.1216del (p.His406fs)	SP9 (H406fs)	Deletion (frameshift variant)	Convulsive status epilepticus +5 more	GPathogenic
Select item 1209868	NM_003024.3(ITSN1):c.3116G>A (p.Trp1039Ter)	ITSN1 (W1034* +2 more)	Single nucleotide variant (nonsense +1 more)	Autistic behavior	GUncertain significance
Select item 1209867	NM_003024.3(ITSN1):c.1389_1392del (p.Lys463fs)	ITSN1 (K426fs +1 more)	Deletion (frameshift variant)	Autistic behavior	GUncertain significance
Select item 1209866	NM_003024.3(ITSN1):c.1258G>T (p.Glu420Ter)	ITSN1 (E383* +1 more)	Single nucleotide variant (nonsense)	Autistic behavior	GUncertain significance
Select item 1209865	NM_003024.3(ITSN1):c.4354A>T (p.Asn1452Tyr)	ITSN1 (N1447Y +1 more)	Single nucleotide variant (missense variant)	Autistic behavior	GUncertain significance
Select item 1209864	NM_003024.3(ITSN1):c.1726G>T (p.Glu576Ter)	ITSN1 (E539* +1 more)	Single nucleotide variant (nonsense)	Autistic behavior	GUncertain significance
Select item 1209863	NM_003024.3(ITSN1):c.789-2A>G	ITSN1	Single nucleotide variant (splice acceptor variant)	Autistic behavior	GUncertain significance
Select item 1209862	NM_003024.3(ITSN1):c.2894dup (p.Tyr965Ter)	ITSN1 (Y923* +2 more)	Duplication (nonsense)	Autistic behavior	GUncertain significance
Select item 1209861	NM_003024.3(ITSN1):c.1960C>T (p.Gln654Ter)	ITSN1 (Q617* +1 more)	Single nucleotide variant (nonsense)	Autistic behavior	GUncertain significance
Select item 1180452	NM_021956.5(GRIK2):c.2003T>C (p.Ile668Thr)	GRIK2 (I668T)	Single nucleotide variant (missense variant)	Autistic behavior	GLikely pathogenic
Select item 1172593	NM_017635.5(KMT5B):c.234_235del (p.Cys78_Glu79delinsTer)	KMT5B	Microsatellite (5 prime UTR variant +3 more)	Autistic behavior	GPathogenic
Select item 1064557	NM_170606.3(KMT2C):c.4918G>C (p.Glu1640Gln)	KMT2C (E1640Q)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2 +1 more	GUncertain significance
Select item 992804	NM_013450.4(BAZ2B):c.3418G>T (p.Val1140Leu)	BAZ2B (V1086L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 992801	NM_001080517.3(SETD5):c.2866A>T (p.Thr956Ser)	SETD5 (T858S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 992797	NM_170606.3(KMT2C):c.6374C>G (p.Pro2125Arg)	KMT2C (P2125R)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GUncertain significance
Select item 992754	NM_014159.7(SETD2):c.2320G>C (p.Val774Leu)	SETD2 (V730L +1 more)	Single nucleotide variant (missense variant +1 more)	Seizure +2 more	GUncertain significance
Select item 992589	NM_001372044.2(SHANK3):c.5209C>T (p.Gln1737Ter)	SHANK3 (Q1737*)	Single nucleotide variant (nonsense)	Autistic behavior +1 more	GPathogenic
Select item 988771	NM_003128.3(SPTBN1):c.567-2_584delinsTTTTCCCTTCTGCTTTG	SPTBN1	Indel (splice acceptor variant)	Intellectual disability +1 more	GUncertain significance
Select item 983366	NM_001385012.1(NBEA):c.4406G>A (p.Arg1469Gln)	NBEA (R1466Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GUncertain significance
Select item 983365	NM_001100913.3(PACS2):c.452A>G (p.Gln151Arg)	PACS2 (Q151R +1 more)	Single nucleotide variant (missense variant)	Autistic behavior +1 more	GUncertain significance
Select item 977920	NM_005121.3(MED13):c.4174C>A (p.Leu1392Ile)	MED13 (L1392I)	Single nucleotide variant (missense variant)	Autistic behavior	GUncertain significance
Select item 977452	NM_174912.4(FAAH2):c.623-1358_742+4935del	FAAH2	Deletion (splice acceptor variant +1 more)	Intellectual disability +1 more	GUncertain significance
Select item 977451	NM_001378418.1(TCF20):c.4237_4241delinsCAGCT (p.Ala1413_Ser1414delinsGlnLeu)	TCF20	Indel (missense variant)	Intellectual disability +1 more	GUncertain significance
Select item 977361	NM_001148.6(ANK2):c.85-28508A>G	ANK2 (K14E)	Single nucleotide variant (missense variant +1 more)	Autistic behavior	GUncertain significance
Select item 977354	NM_001379029.1(CERT1):c.496A>G (p.Thr166Ala)	CERT1 (T166A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GLikely pathogenic
Select item 933148	NM_021614.4(KCNN2):c.1890+2T>C	KCNN2, LOC101927078	Single nucleotide variant (splice donor variant)	Autistic behavior +4 more	GLikely pathogenic
Select item 933147	NM_021614.4(KCNN2):c.1798C>G (p.Leu600Val)	KCNN2, LOC101927078 (L40V +2 more)	Single nucleotide variant (missense variant +1 more)	Autistic behavior +2 more	GPathogenic
Select item 933146	NM_021614.4(KCNN2):c.1720G>A (p.Gly574Ser)	KCNN2, LOC101927078 (G640S +2 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay +4 more	GPathogenic/Likely pathogenic
Select item 933145	NM_021614.4(KCNN2):c.1718A>G (p.Tyr573Cys)	KCNN2, LOC101927078 (Y13C +2 more)	Single nucleotide variant (missense variant +1 more)	Autistic behavior +4 more	GLikely pathogenic
Select item 933143	NM_021614.4(KCNN2):c.1498_1499delinsTC (p.Ile500Ser)	KCNN2 (I566S +1 more)	Indel (missense variant)	Motor tics +3 more	GLikely pathogenic
Select item 933142	NM_021614.4(KCNN2):c.1116C>A (p.Tyr372Ter)	KCNN2 (Y372* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, severe +3 more	GPathogenic
Select item 932941	NM_006593.4(TBR1):c.1105_1113del (p.Val369_Ala371del)	TBR1	Deletion (inframe_deletion)	Limb myoclonus +3 more	GLikely pathogenic
Select item 932940	NM_006593.4(TBR1):c.933_934insCAAAGGA (p.Thr312fs)	TBR1 (T312fs)	Insertion (frameshift variant)	Delayed fine motor development +3 more	GLikely pathogenic
Select item 932939	NM_006593.4(TBR1):c.553C>T (p.Gln185Ter)	TBR1 (Q185*)	Single nucleotide variant (nonsense)	Moderate global developmental delay +3 more	GLikely pathogenic
Select item 932938	GRCh37/hg19 2q24.2(chr2:161967492-162428730)	PSMD14, TANK +1 more	Copy number loss	Moderate global developmental delay +1 more	GLikely pathogenic
Select item 932937	GRCh37/hg19 2q24.2-24.3(chr2:160075929-164666149)	BAZ2B, CD302 +19 more	Copy number loss	Severe global developmental delay +1 more	GLikely pathogenic
Select item 932936	GRCh37/hg19 2q24.2(chr2:161561653-163178787)	DPP4, FAP +6 more	Copy number loss	Severe global developmental delay +1 more	GLikely pathogenic
Select item 834055	NM_013436.5(NCKAP1):c.3240_3241del (p.Asn1080fs)	NCKAP1 (N1080fs +1 more)	Deletion (frameshift variant)	Autistic behavior	GPathogenic
Select item 816863	NM_003072.5(SMARCA4):c.1429A>G (p.Asn477Asp)	SMARCA4 (N477D)	Single nucleotide variant (missense variant +1 more)	Autistic behavior +1 more	GLikely pathogenic
Select item 813839	GRCh37/hg19 Xp22.33(chrX:498249-681607)x3		Copy number gain	Autistic behavior +1 more	GUncertain significance
Select item 638263	NM_001162501.2(TNRC6B):c.3964C>T (p.Gln1322Ter)	TNRC6B (Q1212* +2 more)	Single nucleotide variant (nonsense)	Autistic behavior +2 more	GUncertain significance
Select item 638262	NM_001162501.2(TNRC6B):c.2806+2T>C	TNRC6B	Single nucleotide variant (intron variant +1 more)	Autistic behavior +2 more	GUncertain significance
Select item 631481	NM_181303.2(NLGN3):c.1600C>T (p.Pro534Ser)	NLGN3 (P514S +3 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GPathogenic
Select item 598991	NM_004366.6(CLCN2):c.775G>A (p.Val259Ile)	CLCN2 (V259I +1 more)	Single nucleotide variant (missense variant)	Attention deficit hyperactivity disorder +8 more	GUncertain significance
Select item 598990	NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)	CACNA1A	Deletion (3 prime UTR variant +1 more)	Specific learning disability +13 more	GConflicting classifications of pathogenicity
Select item 598967	NM_001379451.1(BCORL1):c.532A>G (p.Thr178Ala)	BCORL1 (T178A)	Single nucleotide variant (missense variant)	Stereotypic movement disorder +22 more	GUncertain significance
Select item 598966	NM_007327.4(GRIN1):c.2531G>T (p.Arg844Leu)	GRIN1 (R844L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8 +6 more	GPathogenic/Likely pathogenic
Select item 590780	NM_001378418.1(TCF20):c.5725C>T (p.His1909Tyr)	TCF20 (H1909Y)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GPathogenic
Select item 585297	NM_001348800.3(ZBTB20):c.1955A>T (p.His652Leu)	ZBTB20 (H652L +1 more)	Single nucleotide variant (missense variant +1 more)	Clinodactyly of the 5th finger +4 more	GLikely pathogenic
Select item 559397	Single allele	SND1	Deletion	Absent speech +1 more	GUncertain significance
Select item 548950	NM_001289080.2(CNTN6):c.566C>A (p.Ser189Ter)	CNTN6 (S189* +1 more)	Single nucleotide variant (nonsense +2 more)	Autistic behavior	GLikely pathogenic
Select item 545512	NM_031466.7(TRAPPC9):c.[2415_2416insC];[3349+1G>A]			Intellectual disability, autosomal recessive 13 +1 more	GLikely pathogenic
Select item 523688	Single allele	PSMD14, TANK +1 more	Deletion	Moderate global developmental delay +1 more	GLikely pathogenic
Select item 523687	Single allele	DPP4, FAP +6 more	Deletion	Severe global developmental delay +1 more	GLikely pathogenic
Select item 523686	Single allele	BAZ2B, CD302 +19 more	Deletion	Severe global developmental delay +1 more	GLikely pathogenic
Select item 523685	NM_006593.4(TBR1):c.1653_1654del (p.Gln552fs)	TBR1 (Q552fs)	Deletion (frameshift variant)	Intellectual disability +2 more	GLikely pathogenic
Select item 523683	NM_006593.4(TBR1):c.1639_1648dup (p.Pro550fs)	TBR1 (P550fs)	Duplication (frameshift variant)	Autistic behavior +1 more	GLikely pathogenic
Select item 523682	NM_006593.4(TBR1):c.1369_1371delinsCA (p.Thr457fs)	TBR1 (T457fs)	Indel (frameshift variant)	Intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 523681	NM_006593.4(TBR1):c.1177dup (p.Asp393fs)	TBR1 (D393fs)	Duplication (frameshift variant)	Autistic behavior +1 more	GLikely pathogenic
Select item 523680	NM_006593.4(TBR1):c.1155C>G (p.Asn385Lys)	TBR1 (N385K)	Single nucleotide variant (missense variant)	Autistic behavior +1 more	GLikely pathogenic
Select item 523678	NM_006593.4(TBR1):c.896G>A (p.Trp299Ter)	TBR1 (W299*)	Single nucleotide variant (nonsense)	Marfanoid habitus and intellectual disability +2 more	GLikely pathogenic
Select item 523677	NM_006593.4(TBR1):c.844C>T (p.Gln282Ter)	TBR1 (Q282*)	Single nucleotide variant (nonsense)	Autistic behavior +1 more	GLikely pathogenic
Select item 523675	NM_006593.4(TBR1):c.811T>C (p.Trp271Arg)	TBR1 (W271R)	Single nucleotide variant (missense variant)	Autistic behavior +1 more	GLikely pathogenic
Select item 523674	NM_006593.4(TBR1):c.713_719del (p.Ser238fs)	TBR1 (S238fs)	Deletion (frameshift variant)	Intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 523673	NM_006593.4(TBR1):c.673A>T (p.Ile225Phe)	TBR1 (I225F)	Single nucleotide variant (missense variant)	Autistic behavior +1 more	GLikely pathogenic
Select item 523672	NM_006593.4(TBR1):c.471del (p.Ala156_Tyr157insTer)	TBR1	Deletion (nonsense)	Autistic behavior +1 more	GLikely pathogenic
Select item 523382	NM_000834.5(GRIN2B):c.2225G>T (p.Arg742Ile)	GRIN2B (R742I)	Single nucleotide variant (missense variant)	Autistic behavior +3 more	GLikely pathogenic
Select item 523246	GRCh37/hg19 12p13.33-13.32(chr12:3288857-4004582)	PARP11, CRACR2A +2 more	Copy number loss	Global developmental delay +1 more	GUncertain significance
Select item 437421	NM_006005.3(WFS1):c.2540G>A (p.Cys847Tyr)	WFS1 (C847Y)	Single nucleotide variant (missense variant)	Wolfram syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 374035	NM_002024.6(FMR1):c.199-2A>G	FMR1	Single nucleotide variant (splice acceptor variant)	Intellectual disability +1 more	GLikely pathogenic
Select item 268040	46;XY;t(1;3)(p32.1;p25)		Translocation	Absent speech +6 more	GUncertain significance
Select item 268039	46;XY;t(3;18)(q13.31;q22.1)dn		Translocation	Brisk reflexes +29 more	GPathogenic
Select item 268035	46;XX;t(19;21)(q13.3;q22.3)dn		Translocation	Pectus excavatum +22 more	GPathogenic
Select item 268032	46;XY;t(2;10)(p15;p14)dn		Translocation	Specific learning disability +9 more	GUncertain significance
Select item 268025	46;XX;t(6;21)(q14;q21)dn		Translocation	Axial hypotonia +7 more	GLikely pathogenic
Select item 268019	46;XY;t(1;4)(q32;q11)		Translocation	Narrow nasal base +9 more	GUncertain significance
Select item 268012	46;XX;t(X;19)(p11.4;q13.3)		Translocation	Intellectual disability, mild +2 more	GUncertain significance

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