ClinVar for MedGen (Select 86974) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 623485	NM_014462.3(LSM1):c.231+4A>C	LSM1	Single nucleotide variant (intron variant)	Triphalangeal thumb +19 more	GUncertain significance
Select item 523532	NM_022489.4(INF2):c.3247A>G (p.Ser1083Gly)	INF2 (S1083G)	Single nucleotide variant (missense variant)	Birth length less than 3rd percentile +7 more	GUncertain significance
Select item 523401	NM_001378615.1(CC2D2A):c.1149+1G>A	CC2D2A	Single nucleotide variant (splice donor variant)	Polydactyly, postaxial, type A1 +8 more	GPathogenic/Likely pathogenic
Select item 374193	NM_138694.4(PKHD1):c.2716-3C>G	PKHD1	Single nucleotide variant (intron variant)	Periportal fibrosis +2 more	GUncertain significance
Select item 374192	NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro)	OPHN1 (L249P)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia +5 more	GLikely pathogenic
Select item 268039	46;XY;t(3;18)(q13.31;q22.1)dn		Translocation	Brisk reflexes +29 more	GPathogenic
Select item 217725	NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)	TMEM67 (R360C +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +23 more	GConflicting classifications of pathogenicity
Select item 56312	NM_001378615.1(CC2D2A):c.4179+1del	CC2D2A	Deletion (splice donor variant)	Familial aplasia of the vermis +17 more	GPathogenic
Select item 4108	NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	PKHD1 (T36M)	Single nucleotide variant (missense variant)	PKHD1-related condition +7 more	GPathogenic/Likely pathogenic
Select item 1383	NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)	TMEM67 (C615R +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related condition +27 more	GPathogenic/Likely pathogenic