Related gene-specific medical variations for Gene (Select 83723) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326274	NM_031478.6(TLCD3B):c.772C>T (p.Arg258Cys)	C16orf92, TLCD3B (R208C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177764	NM_031478.6(TLCD3B):c.797C>T (p.Pro266Leu)	C16orf92, TLCD3B (P266L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177763	NM_031478.6(TLCD3B):c.787C>T (p.Arg263Cys)	C16orf92, TLCD3B (R349C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177761	NM_031478.6(TLCD3B):c.353C>T (p.Thr118Met)	C16orf92, TLCD3B (T68M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177760	NM_031478.6(TLCD3B):c.341C>T (p.Ala114Val)	C16orf92, TLCD3B (A114V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177759	NM_031478.6(TLCD3B):c.328G>A (p.Gly110Arg)	C16orf92, TLCD3B (G110R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602921	NM_031478.6(TLCD3B):c.548A>G (p.Gln183Arg)	C16orf92, TLCD3B (Q269R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600989	NM_031478.6(TLCD3B):c.344C>T (p.Pro115Leu)	C16orf92, TLCD3B (P115L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595392	NM_031478.6(TLCD3B):c.325G>A (p.Asp109Asn)	C16orf92, TLCD3B (D59N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522983	NM_031478.6(TLCD3B):c.332C>T (p.Ala111Val)	C16orf92, TLCD3B (A197V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1268236	NM_031478.6(TLCD3B):c.234del (p.Gln79fs)	C16orf92, TLCD3B (Q165fs +2 more)	Deletion (frameshift variant +1 more)	Cone-rod dystrophy 22	GPathogenic