ClinVar for MedGen (Select 4693) - ClinVar

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

Links from MedGen

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1706640	NM_032199.3(ARID5B):c.1302del (p.Asn434fs)	ARID5B (N191fs +1 more)	Deletion (frameshift variant)	Blue sclerae +7 more	GUncertain significance
Select item 1047904	GRCh37/hg19 2q11.1-11.2(chr2:96755045-98021592)	CIAO1, CNNM3 +19 more	Copy number loss	Cleft lip +1 more	GPathogenic
Select item 1047903	GRCh37/hg19 4p16.3(chr4:388344-3872380)	HGFAC, HTT +48 more	Copy number loss	Generalized hypotonia +2 more	GPathogenic
Select item 997055	GRCh37/hg19 3p26.3-26.1(chr3:73914-4356052)	CRBN, IL5RA +6 more	Copy number loss	Fetal growth restriction	GLikely pathogenic
Select item 997045	GRCh37/hg19 1q24.3(chr1:172050936-172181677)	DNM3, DNM3OS +3 more	Copy number loss	Fetal growth restriction	GLikely pathogenic
Select item 982316	NM_004818.3(DDX23):c.1886T>G (p.Ile629Ser)	DDX23 (I629S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 812762	NM_018297.4(NGLY1):c.758G>T (p.Cys253Phe)	NGLY1 (C253F +1 more)	Single nucleotide variant (missense variant)	Fetal growth restriction +2 more	GUncertain significance
Select item 684729	NM_032793.5(MFSD2A):c.229-25_229-23del	MFSD2A (V82del)	Deletion (inframe_deletion +1 more)	Cryptorchidism +7 more	GPathogenic
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 559502	GRCh37/hg19 2p23.3(chr2:24807000-25700000)x3	CENPO, PTRHD1 +7 more	Copy number gain	Fetal growth restriction +4 more	GUncertain significance
Select item 559399	Single allele	C9orf163, SEC16A +5 more	Duplication	Fetal growth restriction +4 more	GUncertain significance
Select item 523381	NM_000834.5(GRIN2B):c.2216T>G (p.Met739Arg)	GRIN2B (M739R)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome +10 more	GLikely pathogenic
Select item 374171	NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer)	NIPBL	Deletion (nonsense)	Cornelia de Lange syndrome 1 +9 more	GLikely pathogenic
Select item 374100	NM_001377.3(DYNC2H1):c.10461+1G>A	DYNC2H1	Single nucleotide variant (splice donor variant)	Narrow chest +2 more	GPathogenic
Select item 374024	NM_000153.4(GALC):c.850G>A (p.Gly284Ser)	GALC (G284S +2 more)	Single nucleotide variant (missense variant)	not provided +20 more	GPathogenic/Likely pathogenic
Select item 374023	NM_000153.4(GALC):c.196G>A (p.Ala66Thr)	GALC (A66T +1 more)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency +19 more	GLikely pathogenic
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 280793	NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter)	HDAC8 (R166* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +8 more	GPathogenic
Select item 267881	46;XX;t(1;5)(p23;q15)dn		Translocation	Microcephaly +3 more	GLikely pathogenic
Select item 223153	NM_018129.4(PNPO):c.674G>A (p.Arg225His)	PNPO (R225H)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures +2 more	GPathogenic
Select item 6503	NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)	DYNC2H1 (D3015G)	Single nucleotide variant (missense variant)	DYNC2H1-related condition +8 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 21