ClinVar for MedGen (Select 3968) - ClinVar

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

Links from MedGen

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339481	NM_002204.4(ITGA3):c.1766G>C (p.Arg589Pro)	ITGA3 (R589P)	Single nucleotide variant (missense variant)	Phimosis +8 more	GUncertain significance
Select item 598996	NM_000379.4(XDH):c.1172C>T (p.Pro391Leu)	XDH (P391L)	Single nucleotide variant (missense variant)	Protein-losing enteropathy +9 more	GUncertain significance
Select item 335760	NM_000379.4(XDH):c.3647C>A (p.Pro1216His)	XDH (P1216H)	Single nucleotide variant (missense variant)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 268019	46;XY;t(1;4)(q32;q11)		Translocation	Narrow nasal base +9 more	GUncertain significance
Select item 268017	46;XY;t(2;17)(p25;q23)dn		Translocation	Global developmental delay +3 more	GPathogenic
Select item 267924	46;XY;t(16;20)(q23.1;p11.22)		Translocation	Hyperhydroxyprolinemia +24 more	GUncertain significance
Select item 267860	46;X;t(X;12)(p11.2;q24.33)dn		Translocation	Epicanthus +11 more	GLikely pathogenic
Select item 267841	46;XX;t(7;13)(p13;q34)dn		Translocation	Muscular dystrophy +18 more	GPathogenic
Select item 16320	NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)	CCDST, FLG (S761fs)	Microsatellite (frameshift variant)	FLG-related disorders +5 more	GPathogenic/Likely pathogenic
Select item 16319	NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)	CCDST, FLG (R501*)	Single nucleotide variant (nonsense)	FLG-related disorders +6 more	GPathogenic/Likely pathogenic