"PreventionGenetics, part of Exact Sciences"[submitter] AND "TTC21B-AS - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 198257	NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser)	TTC21B, TTC21B-AS1 (T231S)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 130658	NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu)	TTC21B, TTC21B-AS1 (Q222L)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +6 more	GBenign/Likely benign
Select item 30935	NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)	TTC21B, TTC21B-AS1 (P209L)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +8 more	GPathogenic/Likely pathogenic
Select item 130657	NM_024753.5(TTC21B):c.601G>A (p.Val201Met)	TTC21B, TTC21B-AS1 (V201M)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 2952060	NM_024753.5(TTC21B):c.600T>C (p.Thr200=)	TTC21B, TTC21B-AS1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +2 more	GLikely benign
Select item 706259	NM_024753.5(TTC21B):c.592C>T (p.Leu198=)	TTC21B, TTC21B-AS1	Single nucleotide variant (synonymous variant)	TTC21B-related disorder +2 more	GLikely benign
Select item 261784	NM_024753.5(TTC21B):c.549T>C (p.Gly183=)	TTC21B, TTC21B-AS1	Single nucleotide variant (synonymous variant)	Nephronophthisis +3 more	GConflicting classifications of pathogenicity
Select item 528908	NM_024753.5(TTC21B):c.511G>A (p.Gly171Arg)	TTC21B, TTC21B-AS1 (G171R)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 331839	NM_024753.5(TTC21B):c.481A>G (p.Thr161Ala)	TTC21B, TTC21B-AS1 (T161A)	Single nucleotide variant (missense variant)	TTC21B-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 2633809	NM_024753.5(TTC21B):c.430-6T>C	TTC21B, TTC21B-AS1	Single nucleotide variant (intron variant)	TTC21B-related disorder	GUncertain significance
Select item 261783	NM_024753.5(TTC21B):c.429+6T>C	TTC21B, TTC21B-AS1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 2634236	NM_024753.5(TTC21B):c.429+5C>A	TTC21B, TTC21B-AS1	Single nucleotide variant (intron variant)	TTC21B-related disorder	GUncertain significance
Select item 894674	NM_024753.5(TTC21B):c.338A>G (p.His113Arg)	TTC21B, TTC21B-AS1 (H113R)	Single nucleotide variant (missense variant)	TTC21B-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 2631477	NM_024753.5(TTC21B):c.333A>T (p.Leu111Phe)	TTC21B, TTC21B-AS1 (L111F)	Single nucleotide variant (missense variant)	TTC21B-related disorder	GUncertain significance
Select item 411950	NM_024753.5(TTC21B):c.272C>A (p.Ala91Asp)	TTC21B, TTC21B-AS1 (A91D)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +4 more	GUncertain significance