ClinVar for MedGen (Select 10044) - ClinVar

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

Links from MedGen

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2430281	NM_004663.5(RAB11A):c.335A>G (p.His112Arg)	RAB11A (H112R)	Single nucleotide variant (missense variant)	Intellectual disability, mild +6 more	GLikely pathogenic
Select item 1705882	GRCh37/hg19 10q21.3(chr10:67805361-67914425)x1	CTNNA3	Copy number loss	Intellectual disability, mild	GUncertain significance
Select item 1326873	Single allele	TCF4	Deletion	Intellectual disability, mild	GPathogenic
Select item 1326871	NM_004973.4(JARID2):c.1506del (p.Thr503fs)	JARID2 (T331fs +1 more)	Deletion (frameshift variant)	Intellectual disability, mild	GPathogenic
Select item 1299323	NM_001135659.3:c.(?_-921)_(931+1_932-1)del	NRXN1	Deletion	Autism +4 more	GPathogenic
Select item 1294425	NM_175748.4(UBR7):c.35_54dup (p.Ser19fs)	UBR7 (S19fs)	Duplication (frameshift variant +1 more)	Intellectual disability, mild	GPathogenic
Select item 983218	NM_001032382.2(PQBP1):c.539G>A (p.Arg180His)	PQBP1 (R172H +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, mild +2 more	GConflicting classifications of pathogenicity
Select item 982160	NM_015021.3(ZNF292):c.3460_3463del (p.Val1154fs)	ZNF292 (V1014fs +1 more)	Microsatellite (frameshift variant)	Short stature +2 more	GLikely pathogenic
Select item 978555	NM_133433.4(NIPBL):c.1052C>T (p.Pro351Leu)	NIPBL (P351L)	Single nucleotide variant (missense variant)	Intellectual disability, mild +4 more	GLikely pathogenic
Select item 977441	NM_019842.4(KCNQ5):c.1312C>G (p.Arg438Gly)	KCNQ5 (R429G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 977332	NM_018489.3(ASH1L):c.8487G>T (p.Lys2829Asn)	ASH1L (K2829N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, mild +2 more	GUncertain significance
Select item 933149	NM_021614.4(KCNN2):c.1931T>C (p.Leu644Pro)	LOC101927078, KCNN2 (L644P +2 more)	Single nucleotide variant (missense variant +1 more)	Dyskinesia +3 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 933141	NM_021614.4(KCNN2):c.1436_1439del (p.Leu478_Tyr479insTer)	KCNN2	Deletion (nonsense)	Intellectual disability, mild +2 more	GPathogenic
Select item 929866	NM_198880.3(QRICH1):c.1812_1813del (p.Glu605fs)	QRICH1 (E605fs)	Deletion (frameshift variant)	Ververi-Brady syndrome +1 more	GPathogenic
Select item 691768	NM_133443.4(GPT2):c.266A>G (p.Glu89Gly)	GPT2 (E89G)	Single nucleotide variant (5 prime UTR variant +1 more)	Frequent falls +3 more	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 619083	NCBI36/hg18 16q24.3(chr16:87891000-88572000)		Copy number gain	Intellectual disability, mild	GUncertain significance
Select item 590779	NM_001378418.1(TCF20):c.1810_1811del (p.Val604fs)	TCF20 (V604fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 590778	NM_001378418.1(TCF20):c.2594C>G (p.Ser865Ter)	TCF20 (S865*)	Single nucleotide variant (nonsense)	Autism +2 more	GPathogenic
Select item 562233	Single allele	BTBD9	Deletion	Intellectual disability, mild	GUncertain significance
Select item 562231	Single allele	ACADVL, ACAP1 +25 more	Duplication	Bilateral conductive hearing impairment +3 more	GLikely pathogenic
Select item 559503	GRCh37/hg19 2q31.1(chr2:172344870-173038935)x4	SLC25A12, DLX1 +5 more	Copy number gain	Isolated Pierre-Robin syndrome +3 more	GUncertain significance
Select item 559402	Single allele	GLIS2, GLIS2-AS1 +10 more	Deletion	Low-set ears +5 more	GUncertain significance
Select item 559395	Single allele	CEP85L, PLN	Duplication	Ebstein anomaly +2 more	GUncertain significance
Select item 548142	NM_003107.3(SOX4):c.198C>A (p.Phe66Leu)	SOX4 (F66L)	Single nucleotide variant (missense variant)	Intellectual disability, mild	GLikely pathogenic
Select item 523291	GRCh37/hg19 8q23.1(chr8:109990022-110168343)	TRHR	Copy number loss	Intellectual disability, mild +8 more	GUncertain significance
Select item 523290	GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)	AGPAT5, ANGPT2 +15 more	Copy number loss	Intellectual disability, mild +7 more	GPathogenic
Select item 523288	GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	ADAM28, ADAM7 +77 more	Copy number gain	Intellectual disability, mild +7 more	GPathogenic
Select item 523284	GRCh37/hg19 7q11.23(chr7:72772522-74133319)	CLDN3, CLDN4 +23 more	Copy number loss	Decreased body weight +14 more	GPathogenic
Select item 523275	GRCh37/hg19 22q11.21(chr22:21081260-21431174)	AIFM3, SNAP29 +7 more	Copy number gain	Intellectual disability, mild +8 more	GUncertain significance
Select item 523274	GRCh37/hg19 22q11.21(chr22:18894835-21505417)	DGCR8, ESS2 +45 more	Copy number loss	Ear malformation +13 more	GPathogenic
Select item 523255	GRCh37/hg19 16p11.2(chr16:29656684-30197341)	ASPHD1, C16orf54 +25 more	Copy number gain	Intellectual disability, mild +8 more	GLikely pathogenic
Select item 268024	46;XY;t(2;19)(q12;p13.2)dn		Translocation	Facial asymmetry +8 more	GUncertain significance
Select item 268023	46;X;t(X;21)(q26.1;q21.22)dn		Translocation	Delayed speech and language development +15 more	GUncertain significance
Select item 268019	46;XY;t(1;4)(q32;q11)		Translocation	Narrow nasal base +9 more	GUncertain significance
Select item 268018	46;XY;t(2;10)(p25;q26)dn		Translocation	Intellectual disability, mild +6 more	GPathogenic
Select item 268017	46;XY;t(2;17)(p25;q23)dn		Translocation	Global developmental delay +3 more	GPathogenic
Select item 268012	46;XX;t(X;19)(p11.4;q13.3)		Translocation	Intellectual disability, mild +2 more	GUncertain significance
Select item 267887	46;XY;t(1;2)(p34.2;q35)dn		Translocation	Delayed speech and language development +9 more	GPathogenic
Select item 267835	46;XX;der(6)t(6;13)(q23.3;q22)inv(6)(p21.3q15);der(13)t(6;13)dn		Complex	Ventricular septal defect +15 more	GUncertain significance
Select item 218934	t(12;19)(q24.21;q12)	MED13L	Translocation	Hypertelorism +13 more	GPathogenic
Select item 209170	NM_001145715.3(KPNA7):c.1046T>C (p.Leu349Pro)	KPNA7 (L349P)	Single nucleotide variant (missense variant)	Intellectual disability, mild	GUncertain significance
Select item 209169	NM_001145715.3(KPNA7):c.106C>T (p.Arg36Ter)	KPNA7 (R36*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	RBM25, LIN52 +59 more	Deletion	Intellectual disability, mild +3 more	GLikely pathogenic
Select item 68505	NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)	SCN1A (R393C)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy +7 more	GPathogenic
Select item 40554	NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)	PTPN11 (R498L +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +11 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 47