"Baylor Genetics"[submitter] AND "TTC21B"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 130656	NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu)	TTC21B (P1266L)	Single nucleotide variant (missense variant)	Nephronophthisis 12 +4 more	GConflicting classifications of pathogenicity
Select item 1029923	NM_024753.5(TTC21B):c.3460-3T>C	TTC21B	Single nucleotide variant (intron variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 195908	NM_024753.5(TTC21B):c.3264-3C>G	TTC21B	Single nucleotide variant (intron variant)	Nephronophthisis 12 +4 more	GConflicting classifications of pathogenicity
Select item 1029922	NM_024753.5(TTC21B):c.2731C>G (p.Leu911Val)	TTC21B (L911V)	Single nucleotide variant (missense variant)	Nephronophthisis 12	GUncertain significance
Select item 1034075	NM_024753.5(TTC21B):c.2550G>A (p.Ala850=)	TTC21B	Single nucleotide variant (synonymous variant)	Nephronophthisis 12 +2 more	GConflicting classifications of pathogenicity
Select item 459287	NM_024753.5(TTC21B):c.2255A>G (p.Asn752Ser)	TTC21B (N752S)	Single nucleotide variant (missense variant)	Nephronophthisis 12 +4 more	GConflicting classifications of pathogenicity
Select item 1034074	NM_024753.5(TTC21B):c.1048G>T (p.Ala350Ser)	TTC21B (A350S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2582457	NM_024753.5(TTC21B):c.914TTC[1] (p.Leu306del)	TTC21B (L306del)	Microsatellite (inframe_deletion)	Nephronophthisis 12	GUncertain significance
Select item 1029925	NM_024753.5(TTC21B):c.629G>A (p.Ser210Asn)	TTC21B, TTC21B-AS1 (S210N)	Single nucleotide variant (missense variant)	Nephronophthisis 12	GUncertain significance
Select item 1029924	NM_024753.5(TTC21B):c.368G>A (p.Arg123His)	TTC21B, TTC21B-AS1 (R123H)	Single nucleotide variant (missense variant)	Nephronophthisis 12 +3 more	GUncertain significance