ClinVar for MedGen (Select 5477) - ClinVar - NCBI

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

Links from MedGen

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1804036	NM_001256071.3(RNF213):c.114C>G (p.Asn38Lys)	RNF213 (N38K)	Single nucleotide variant (missense variant)	Seizure +4 more	GLikely pathogenic
Select item 983426	NM_017617.5(NOTCH1):c.5674G>A (p.Gly1892Arg)	NOTCH1 (G1892R)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +3 more	GUncertain significance
Select item 635772	GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3	ARG2, RDH11 +3 more	Copy number gain	Hemangioma +3 more	GUncertain significance
Select item 632442	NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs)	SRD5A3, SRD5A3-AS1 (F318fs)	Deletion (frameshift variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 523386	NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr)	PKD1 (I120T)	Single nucleotide variant (missense variant)	Enlarged kidney +3 more	GConflicting classifications of pathogenicity
Select item 523383	NM_000969.5(RPL5):c.74-1G>C	DIPK1A, RPL5	Single nucleotide variant (splice acceptor variant +1 more)	Atrial septal defect +16 more	GPathogenic
Select item 523292	GRCh37/hg19 8q23.3(chr8:114378494-114450308)	CSMD3	Copy number loss	Hemangioma +2 more	GBenign
Select item 404162	NM_000314.8(PTEN):c.675T>G (p.Tyr225Ter)	PTEN (Y225* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 268019	46;XY;t(1;4)(q32;q11)		Translocation	Narrow nasal base +9 more	GUncertain significance
Select item 267892	46;XX;t(4;14)(p15.2;q13)dn		Translocation	Clinodactyly of the 5th finger +14 more	GLikely pathogenic
Select item 267837	46;XY;t(7;13)(p15.3;q14.1)dn		Translocation	Synophrys +11 more	GPathogenic
Select item 267804	46;XX;ins(3;1)(q23;p22p32)dn		Translocation	Hemangioma +6 more	GLikely pathogenic