ClinVar for MedGen (Select 781174) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 804386	NM_001134225.2(INPP4A):c.352_353del (p.Ser118fs)	INPP4A (S118fs)	Microsatellite (frameshift variant)	Pectus excavatum +4 more	GLikely pathogenic
Select item 598968	NM_001379110.1(SLC9A6):c.1662-19_1662-3del	SLC9A6	Deletion (intron variant)	Autism +14 more	GLikely pathogenic
Select item 598950	NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter)	DNAJC21 (R182*)	Single nucleotide variant (nonsense)	Acute myeloid leukemia +8 more	GPathogenic
Select item 590777	NM_001378418.1(TCF20):c.3605dup (p.Pro1203fs)	TCF20 (P1203fs)	Duplication (frameshift variant)	Failure to thrive +4 more	GPathogenic
Select item 374132	NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)	DMD (W3416* +8 more)	Single nucleotide variant (nonsense +1 more)	Qualitative or quantitative defects of dystrophin +11 more	GConflicting classifications of pathogenicity
Select item 374115	NM_000138.5(FBN1):c.840_843del (p.Asn280fs)	FBN1 (N280fs)	Deletion (frameshift variant)	Myopia +4 more	GPathogenic
Select item 373982	NM_000123.4(ERCC5):c.2929_2930del (p.Leu977fs)	ERCC5, BIVM-ERCC5 (L977fs +1 more)	Microsatellite (frameshift variant)	Pes cavus +7 more	GLikely pathogenic
Select item 373969	NM_006306.4(SMC1A):c.2981A>G (p.Gln994Arg)	SMC1A (Q972R +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +9 more	GUncertain significance
Select item 268035	46;XX;t(19;21)(q13.3;q22.3)dn		Translocation	Pectus excavatum +22 more	GPathogenic
Select item 268011	46;XX;t(17;22)(q23;q12.2)dn		Translocation	Arachnodactyly +10 more	GUncertain significance
Select item 268005	46;XX;t(8;14)(q21.2;q12)dn		Translocation	Hypoplasia of the frontal lobes +11 more	GLikely pathogenic
Select item 267837	46;XY;t(7;13)(p15.3;q14.1)dn		Translocation	Synophrys +11 more	GPathogenic
Select item 267825	46;XY;t(1;9;5)(compleX)dn		Translocation	Abnormality of the outer ear +10 more	GLikely pathogenic
Select item 267815	46;X;t(X;5)(p11.23;q35)dn		Translocation	High myopia +14 more	GPathogenic
Select item 183343	NM_198841.4(FAM120AOS):c.743C>T (p.Thr248Ile)	FAM120AOS (T248I +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperactive airways +8 more	GLikely pathogenic
Select item 95305	NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)	SOX3	Duplication (inframe_insertion)	SOX3-related condition +28 more	GConflicting classifications of pathogenicity
Select item 40513	NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	PTPN11 (E139D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 12347	NM_000546.6(TP53):c.742C>T (p.Arg248Trp)	TP53 (R248W +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 6821	NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	SHOC2 (S2G)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1	GPathogenic FDA Recognized database

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Items: 20