ClinVar for MedGen (Select 69137) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 973608	GRCh37/hg19 3p14.2(chr3:62939217-63583768)x3	SYNPR	Copy number gain	Hypotonia +2 more	GUncertain significance
Select item 973607	GRCh37/hg19 10q21.1(chr10:58932423-59272160)x1		Copy number loss	Hypotonia +2 more	GUncertain significance
Select item 973606	GRCh37/hg19 13q12.2(chr13:27876782-28102260)x3	GTF3A, MTIF3	Copy number gain	Hypotonia +2 more	GUncertain significance
Select item 691885	NM_001039348.3(EFEMP1):c.615T>A (p.Tyr205Ter)	EFEMP1 (Y205*)	Single nucleotide variant (nonsense)	Dural ectasia +13 more	GPathogenic
Select item 691884	NM_001039348.3(EFEMP1):c.320_324del (p.Met107fs)	EFEMP1 (M107fs)	Deletion (frameshift variant)	Dural ectasia +13 more	GPathogenic
Select item 575511	NM_000548.5(TSC2):c.5194C>G (p.Pro1732Ala)	TSC2 (P1732A +10 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 559433	NC_000008.10:g.[103335671_103389222del;103662755_103870397del]	UBR5, LOC124174310 +17 more	Deletion	Sandal gap +6 more	GUncertain significance
Select item 523268	GRCh37/hg19 1p36.21(chr1:13801823-14012604)	PDPN, LRRC38	Copy number gain	Tall stature +2 more	GUncertain significance
Select item 523241	GRCh37/hg19 1p36.22(chr1:12019879-12028775)	PLOD1	Copy number gain	Vascular dilatation +8 more	GPathogenic
Select item 374115	NM_000138.5(FBN1):c.840_843del (p.Asn280fs)	FBN1 (N280fs)	Deletion (frameshift variant)	Myopia +4 more	GPathogenic
Select item 374081	NM_000138.5(FBN1):c.8016T>G (p.Cys2672Trp)	FBN1 (C2672W)	Single nucleotide variant (missense variant)	Ectopia lentis +6 more	GLikely pathogenic
Select item 374079	NM_000138.5(FBN1):c.1481G>T (p.Cys494Phe)	FBN1 (C494F)	Single nucleotide variant (missense variant)	Lens subluxation +3 more	GLikely pathogenic
Select item 373975	NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val)	NSDHL (L352V)	Single nucleotide variant (missense variant)	Child syndrome +1 more	GUncertain significance
Select item 268041	46;XY;t(5;7)(q35;q33)dn		Translocation	Tall stature +6 more	GPathogenic
Select item 267939	46;XY;inv(2)(q11.2q24.2)dn		Inversion	Ear malformation +16 more	GUncertain significance
Select item 267927	46;XY;t(4;14)(p14;q11.2)dn		Translocation	Short philtrum +28 more	GUncertain significance
Select item 267924	46;XY;t(16;20)(q23.1;p11.22)		Translocation	Hyperhydroxyprolinemia +24 more	GUncertain significance
Select item 267879	46;XY;inv(1)(p11q21)dn		Inversion	Tall stature +3 more	GPathogenic
Select item 163462	NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	FBN1 (I2585T)	Single nucleotide variant (missense variant)	Connective tissue dysplasia +11 more	GPathogenic/Likely pathogenic
Select item 159398	NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)	NSD1 (R2017Q +5 more)	Single nucleotide variant (missense variant)	Increased body weight +16 more	GPathogenic/Likely pathogenic

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Items: 21