ClinVar for MedGen (Select 167800) - ClinVar - NCBI

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

Links from MedGen

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 977143	NM_003482.4(KMT2D):c.10624C>G (p.Leu3542Val)	KMT2D (L3542V)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 929484	NM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu)	AMOTL1 (P110L +1 more)	Single nucleotide variant (missense variant)	Hypertelorism +6 more	GConflicting classifications of pathogenicity
Select item 598967	NM_001379451.1(BCORL1):c.532A>G (p.Thr178Ala)	BCORL1 (T178A)	Single nucleotide variant (missense variant)	Downturned corners of mouth +22 more	GUncertain significance
Select item 523383	NM_000969.5(RPL5):c.74-1G>C	DIPK1A, RPL5	Single nucleotide variant (splice acceptor variant +1 more)	Erythroid hypoplasia +16 more	GPathogenic
Select item 373964	NM_001271.4(CHD2):c.949A>G (p.Ile317Val)	CHD2 (I317V)	Single nucleotide variant (missense variant)	Growth delay +10 more	GLikely benign
Select item 373963	NM_001374353.1(GLI2):c.254G>C (p.Gly85Ala)	GLI2 (G85A)	Single nucleotide variant (missense variant +1 more)	Growth delay +10 more	GLikely benign
Select item 268028	46;XY;t(1;14)(p32.1;q32.1)dn		Translocation	Congenital sensorineural hearing impairment +2 more	GUncertain significance
Select item 268015	46;XY;t(1;14)(q42.1;q31.1)dn		Translocation	Chronic constipation +2 more	GUncertain significance
Select item 268010	46;XX;t(2;10)(p23;q22.1)dn		Translocation	Hypernasal speech +9 more	GPathogenic
Select item 268009	46;X;t(X;3)(p21.3;p25.1)dn		Translocation	Dolichocephaly +11 more	GPathogenic
Select item 40555	NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys)	PTPN11 (R501K +2 more)	Single nucleotide variant (missense variant)	not provided +10 more	GPathogenic
Select item 39787	NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp)	EARS2 (R108W)	Single nucleotide variant (missense variant +1 more)	See cases +12 more	GPathogenic/Likely pathogenic
Select item 17326	NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser)	COL1A1 (G593S)	Single nucleotide variant (missense variant)	Abnormality of the skeletal system +28 more	GPathogenic/Likely pathogenic
Select item 13271	NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)	FGFR2 (S347C +3 more)	Single nucleotide variant (missense variant +2 more)	Lateral ventricle dilatation +25 more	GPathogenic/Likely pathogenic