ClinVar for MedGen (Select 535345) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2430245	NM_002235.5(KCNA6):c.1367T>A (p.Val456Asp)	KCNA6 (V456D)	Single nucleotide variant (missense variant +1 more)	Focal-onset seizure +10 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 1675328	NM_001372044.2(SHANK3):c.2062G>C (p.Val688Leu)	LOC126863188, SHANK3 (V688L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	FGF2, HSPA4L +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 1047862	NM_003128.3(SPTBN1):c.3908dup (p.Tyr1303Ter)	SPTBN1 (Y1303* +1 more)	Duplication (nonsense)	Mild global developmental delay +1 more	GUncertain significance
Select item 997081	GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678)	ACSL1, ANKRD37 +36 more	Copy number loss	Overgrowth +1 more	GLikely pathogenic
Select item 997078	GRCh37/hg19 18p11.31(chr18:3635929-3890654)	DLGAP1	Copy number loss	Atypical behavior +1 more	GLikely pathogenic
Select item 997062	GRCh37/hg19 2p16.3(chr2:51251498-51491417)	NRXN1	Copy number loss	Atypical behavior +1 more	GPathogenic
Select item 997056	GRCh37/hg19 3q29(chr3:195419168-197387258)	PIGX, PIGZ +24 more	Copy number gain	Delayed speech and language development +1 more	GPathogenic
Select item 997053	GRCh37/hg19 22q11.21(chr22:18894835-21464119)	PRODH, RANBP1 +45 more	Copy number gain	Atypical behavior +2 more	GPathogenic
Select item 996321	NM_006421.5(ARFGEF1):c.4033C>T (p.Arg1345Ter)	ARFGEF1 (R1345*)	Single nucleotide variant (nonsense)	Atypical behavior +3 more	GPathogenic
Select item 996320	NM_006421.5(ARFGEF1):c.3697C>T (p.Gln1233Ter)	ARFGEF1 (Q1233*)	Single nucleotide variant (nonsense)	Atypical behavior +3 more	GPathogenic
Select item 996319	NM_006421.5(ARFGEF1):c.1942C>T (p.Gln648Ter)	ARFGEF1 (Q648*)	Single nucleotide variant (nonsense)	Delayed speech and language development +3 more	GPathogenic
Select item 996318	NM_006421.5(ARFGEF1):c.1006del (p.Met336fs)	ARFGEF1 (M336fs)	Deletion (frameshift variant)	Delayed speech and language development +3 more	GPathogenic
Select item 996317	NM_006421.5(ARFGEF1):c.2395C>T (p.Arg799Ter)	ARFGEF1 (R799*)	Single nucleotide variant (nonsense)	Atypical behavior +3 more	GPathogenic
Select item 996316	NM_006421.5(ARFGEF1):c.2923_2924dup (p.Cys976fs)	ARFGEF1 (C976fs)	Microsatellite (frameshift variant)	Atypical behavior +3 more	GPathogenic
Select item 996315	NM_006421.5(ARFGEF1):c.2158del (p.Leu720fs)	ARFGEF1 (L720fs)	Deletion (frameshift variant)	Atypical behavior +3 more	GPathogenic
Select item 996313	NM_006421.5(ARFGEF1):c.5320C>T (p.Arg1774Ter)	ARFGEF1 (R1774*)	Single nucleotide variant (nonsense)	Global developmental delay +5 more	GPathogenic
Select item 996312	NM_006421.5(ARFGEF1):c.2392G>A (p.Asp798Asn)	ARFGEF1 (D798N)	Single nucleotide variant (missense variant)	Delayed speech and language development +3 more	GPathogenic
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 916029	NM_000834.5(GRIN2B):c.1439_1446del (p.Leu480fs)	GRIN2B (L480fs)	Deletion (frameshift variant)	Atypical behavior +6 more	GPathogenic
Select item 813001	NM_030632.3(ASXL3):c.4376del (p.Gly1459fs)	ASXL3 (G1459fs)	Deletion (frameshift variant)	Global developmental delay +3 more	GLikely pathogenic
Select item 812755	NM_002074.5(GNB1):c.352G>T (p.Asp118Tyr)	GNB1 (D118Y +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 812745	NM_000435.3(NOTCH3):c.634T>C (p.Cys212Arg)	NOTCH3 (C212R)	Single nucleotide variant (missense variant)	Migraine +6 more	GPathogenic
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 559402	Single allele	GLIS2, GLIS2-AS1 +10 more	Deletion	Low-set ears +5 more	GUncertain significance
Select item 559396	Single allele	IMMP2L, LOC129389845	Deletion	Atypical behavior +1 more	GUncertain significance
Select item 550774	NM_015346.4(ZFYVE26):c.4804C>T (p.Arg1602Ter)	ZFYVE26 (R1602*)	Single nucleotide variant (nonsense)	Intellectual disability +3 more	GPathogenic/Likely pathogenic
Select item 523679	NM_006593.4(TBR1):c.1118A>G (p.Gln373Arg)	TBR1 (Q373R)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 523550	NM_001372044.2(SHANK3):c.3302C>T (p.Ser1101Phe)	SHANK3 (S1026F +1 more)	Single nucleotide variant (missense variant)	Macrocephaly +4 more	GUncertain significance
Select item 523494	NM_006772.3(SYNGAP1):c.1697_1700dup (p.Val568fs)	SYNGAP1, SYNGAP1-AS1 (V568fs)	Duplication (frameshift variant)	Motor delay +3 more	GLikely pathogenic
Select item 523458	NM_001032221.6(STXBP1):c.360del (p.Lys120fs)	STXBP1 (K120fs +2 more)	Deletion (frameshift variant)	Macrocephaly +4 more	GPathogenic
Select item 523421	NM_001378452.1(ITPR1):c.2477C>T (p.Ser826Phe)	ITPR1 (S811F +1 more)	Single nucleotide variant (missense variant)	Atypical behavior +3 more	GUncertain significance
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 523381	NM_000834.5(GRIN2B):c.2216T>G (p.Met739Arg)	GRIN2B (M739R)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome +10 more	GLikely pathogenic
Select item 522263	NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser)	ANKRD11 (P2307S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity
Select item 411584	NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter)	SYNGAP1, SYNGAP1-AS1 (R687*)	Single nucleotide variant (nonsense)	Pointed chin +15 more	GPathogenic/Likely pathogenic
Select item 268039	46;XY;t(3;18)(q13.31;q22.1)dn		Translocation	Brisk reflexes +29 more	GPathogenic
Select item 268021	46;X;idic(Y)(q11);t(2;6;12;3)(q24;q23;q12;p13)[21]/46;XY;t(2;6;12;3)dn		Complex	Clubfoot +9 more	GUncertain significance
Select item 268002	46;XY;t(1;5)(p34.1;q13.1)		Translocation	Atypical behavior	GUncertain significance
Select item 267970	46;XX;inv(7)(p13q11.23)		Inversion	Abnormal facial shape +1 more	GPathogenic
Select item 267917	46;X;inv(X)(p11.2;q22)dn		Inversion	Global developmental delay +6 more	GUncertain significance
Select item 267902	46;XY;t(3;5)(q24;p15.3)dn		Translocation	Attention deficit hyperactivity disorder +13 more	GPathogenic
Select item 267880	46;XY;t(1;2)(q31.2;p15)		Translocation	Delayed speech and language development +5 more	GLikely pathogenic
Select item 267862	46;XY;t(1;3)(p22;q21)dn		Translocation	Corpus callosum, agenesis of +24 more	GUncertain significance
Select item 267858	46;XX;t(1;19)(p34.1;p13.1)dn		Translocation	Atypical behavior +4 more	GLikely pathogenic
Select item 267845	46;X;t(X;17)(p11.23;p11.2)dn		Translocation	Global developmental delay +9 more	GUncertain significance
Select item 267844	46;XX;t(9;19)(q22.3;q13.1)dn		Translocation	Skin rash +7 more	GUncertain significance
Select item 267842	46;X;t(X;11)(p11.2;q23.3)dn		Translocation	Atypical behavior +2 more	GUncertain significance
Select item 267829	46;XX;t(5;10)(p13.3;q21.1)dn		Translocation	Depression +10 more	GUncertain significance
Select item 267823	46;XY;t(6;11)(q23;q21)or(q25;q21)dn		Translocation	Abnormal facial skeleton morphology +10 more	GUncertain significance
Select item 267819	46;X;inv(X)(q26q28)dn		Inversion	Accelerated skeletal maturation +12 more	GUncertain significance
Select item 267818	46;X;t(Y;3)(p11.2;p12.3)dn		Translocation	Abnormality of vision +6 more	GLikely pathogenic
Select item 267813	46;X;t(X;9)(p22.2;p13)dn		Translocation	Myopia +8 more	GUncertain significance
Select item 242909	NM_001197104.2(KMT2A):c.2633G>A (p.Arg878Gln)	KMT2A (R878Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 206734	NM_001165963.4(SCN1A):c.2770G>A (p.Ala924Thr)	SCN1A (A913T +5 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay +10 more	GLikely benign
Select item 11823	NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)	MECP2 (A140V +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder +15 more	GPathogenic/Likely pathogenic
Select item 9	NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	HFE (C282Y +8 more)	Single nucleotide variant (missense variant +1 more)	Alzheimer disease type 1 +20 more	GPathogenic/Pathogenic, low penetrance; other; risk factor

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Items: 66