ClinVar for MedGen (Select 812934) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 996741	NM_012233.3(RAB3GAP1):c.151-5T>G	RAB3GAP1	Single nucleotide variant (intron variant)	Cleft palate +17 more	GPathogenic
Select item 599004	NM_033419.5(PGAP3):c.851A>G (p.His284Arg)	PGAP3 (H284R +2 more)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 4 +12 more	GPathogenic/Likely pathogenic
Select item 599003	NM_001242896.3(DEPDC5):c.2785G>A (p.Gly929Ser)	DEPDC5 (G929S +3 more)	Single nucleotide variant (missense variant +1 more)	Cleft palate +9 more	GUncertain significance
Select item 598978	NM_001317778.2(SFTPC):c.163C>T (p.Leu55Phe)	SFTPC (L55F)	Single nucleotide variant (missense variant +1 more)	Myopathy +14 more	GLikely pathogenic
Select item 523256	GRCh37/hg19 17p11.2(chr17:16782546-20294038)	TRIM16L, MED9 +47 more	Copy number loss	Pes valgus +9 more	GPathogenic
Select item 268038	46;XY;t(6;16)(p21.1;q21)dn		Translocation	Polymicrogyria +10 more	GUncertain significance
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Cerebral palsy +7 more	GPathogenic/Likely pathogenic
Select item 195313	NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala)	MYO15A (V485A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +12 more	GConflicting classifications of pathogenicity
Select item 44261	NM_001927.4(DES):c.407T>A (p.Leu136His)	DES (L136H)	Single nucleotide variant (missense variant)	not provided +20 more	GUncertain significance
Select item 16340	NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	FGFR3 (P250R)	Single nucleotide variant (missense variant +1 more)	FGFR3-related chondrodysplasia +26 more	GPathogenic/Likely pathogenic