Related gene-specific medical variations for Gene (Select 55239) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3204109	NM_018233.4(OGFOD1):c.1510T>C (p.Tyr504His)	BBS2, OGFOD1 (Y466H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204108	NM_018233.4(OGFOD1):c.1281G>C (p.Lys427Asn)	BBS2, OGFOD1 (K330N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204107	NM_018233.4(OGFOD1):c.122A>T (p.Glu41Val)	LOC130059043, OGFOD1 (E41V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3024873	NM_018233.4(OGFOD1):c.1584A>C (p.Pro528=)	BBS2, OGFOD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2562109	NM_018233.4(OGFOD1):c.1112C>T (p.Ser371Leu)	BBS2, OGFOD1 (S231L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2502268	NM_018233.4(OGFOD1):c.1467+11_1467+13del	BBS2, OGFOD1	Microsatellite (intron variant)	Bardet-Biedl syndrome 2 +1 more	GUncertain significance
Select item 2412005	NM_018233.4(OGFOD1):c.38G>C (p.Arg13Pro)	LOC130059043, OGFOD1 (R13P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2406505	NM_018233.4(OGFOD1):c.1547T>C (p.Ile516Thr)	BBS2, OGFOD1 (I376T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380657	NM_018233.4(OGFOD1):c.1556G>A (p.Arg519Gln)	BBS2, OGFOD1 (R464Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376320	NM_018233.4(OGFOD1):c.113A>G (p.Gln38Arg)	LOC130059043, OGFOD1 (Q38R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2281848	NM_018233.4(OGFOD1):c.1609T>G (p.Ser537Ala)	BBS2, OGFOD1 (S537A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255293	NM_018233.4(OGFOD1):c.37C>T (p.Arg13Trp)	LOC130059043, OGFOD1 (R13W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2252369	NM_018233.4(OGFOD1):c.1444A>T (p.Ile482Phe)	BBS2, OGFOD1 (I342F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240290	NM_018233.4(OGFOD1):c.1583C>G (p.Pro528Arg)	BBS2, OGFOD1 (P388R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance