ClinVar for MedGen (Select 98316) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2571628	NM_001352702.2(PTK2):c.2563C>T (p.Arg855Ter)	PTK2 (R124* +34 more)	Single nucleotide variant (nonsense +1 more)	Failure to thrive +10 more	GUncertain significance
Select item 830379	NM_015701.5(ERLEC1):c.1448A>G (p.Asn483Ser)	ERLEC1, GPR75-ASB3 (N429S +2 more)	Single nucleotide variant (missense variant +1 more)	Mandibular prognathia	GLikely pathogenic
Select item 830378	NM_015701.5(ERLEC1):c.419C>T (p.Thr140Ile)	ERLEC1, GPR75-ASB3 (T140I)	Single nucleotide variant (missense variant +1 more)	Mandibular prognathia	GLikely pathogenic
Select item 830377	NM_015701.5(ERLEC1):c.419C>G (p.Thr140Ser)	ERLEC1, GPR75-ASB3 (T140S)	Single nucleotide variant (missense variant +1 more)	Mandibular prognathia	GLikely pathogenic
Select item 830376	NM_015701.5(ERLEC1):c.1237C>T (p.His413Tyr)	ERLEC1, GPR75-ASB3 (H413Y +1 more)	Single nucleotide variant (missense variant +1 more)	Mandibular prognathia	GLikely pathogenic
Select item 598985	NM_002076.4(GNS):c.1594C>G (p.Pro532Ala)	GNS (P532A)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D +22 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 520596	NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn)	CSNK2B (D32N)	Single nucleotide variant (missense variant)	CSNK2B-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 373980	NM_021008.4(DEAF1):c.667G>A (p.Gly223Ser)	DEAF1 (G223S)	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability-epilepsy-extrapyramidal syndrome +1 more	GConflicting classifications of pathogenicity
Select item 268042	46;XY;t(18;20)(q21.1;p11.23)dn		Translocation	Congenital ectopic pupil +26 more	GUncertain significance
Select item 267799	46;XY;t(3;17)(p14.3;q24.3)dn		Translocation	Epicanthus +15 more	GLikely pathogenic
Select item 432	NM_000110.4(DPYD):c.1905+1G>A	DPYD	Single nucleotide variant (splice donor variant)	tegafur response - Toxicity +3 more	Gdrug response