"Fulgent Genetics, Fulgent Genetics"[submitter] AND "TTC21B-AS1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 130658	NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu)	TTC21B, TTC21B-AS1 (Q222L)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 30935	NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)	TTC21B-AS1, TTC21B (P209L)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +7 more	GPathogenic/Likely pathogenic
Select item 1443016	NM_024753.5(TTC21B):c.575A>G (p.Gln192Arg)	TTC21B, TTC21B-AS1 (Q192R)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 967609	NM_024753.5(TTC21B):c.572G>A (p.Arg191His)	TTC21B, TTC21B-AS1 (R191H)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +3 more	GUncertain significance
Select item 1565226	NM_024753.5(TTC21B):c.553-13del	TTC21B, TTC21B-AS1	Deletion (intron variant)	Asphyxiating thoracic dystrophy 4 +3 more	GBenign/Likely benign
Select item 509487	NM_024753.5(TTC21B):c.553-20C>G	TTC21B, TTC21B-AS1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 4 +4 more	GLikely benign
Select item 669097	NM_024753.5(TTC21B):c.468A>G (p.Gly156=)	TTC21B, TTC21B-AS1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 783105	NM_024753.5(TTC21B):c.453T>G (p.Leu151=)	TTC21B, TTC21B-AS1	Single nucleotide variant (synonymous variant)	Nephronophthisis +3 more	GLikely benign
Select item 704673	NM_024753.5(TTC21B):c.441G>A (p.Leu147=)	TTC21B, TTC21B-AS1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +4 more	GLikely benign
Select item 1468232	NM_024753.5(TTC21B):c.437T>G (p.Val146Gly)	TTC21B, TTC21B-AS1 (V146G)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +4 more	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
Select item 1429054	NM_024753.5(TTC21B):c.361A>G (p.Ile121Val)	TTC21B, TTC21B-AS1 (I121V)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +3 more	GUncertain significance
Select item 894674	NM_024753.5(TTC21B):c.338A>G (p.His113Arg)	TTC21B, TTC21B-AS1 (H113R)	Single nucleotide variant (missense variant)	Nephronophthisis 12 +3 more	GConflicting classifications of pathogenicity
Select item 701980	NM_024753.5(TTC21B):c.318T>C (p.Ala106=)	TTC21B, TTC21B-AS1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +3 more	GLikely benign
Select item 1500150	NM_024753.5(TTC21B):c.307C>T (p.Arg103Cys)	TTC21B, TTC21B-AS1 (R103C)	Single nucleotide variant (missense variant)	Nephronophthisis 12 +3 more	GUncertain significance
Select item 411950	NM_024753.5(TTC21B):c.272C>A (p.Ala91Asp)	TTC21B, TTC21B-AS1 (A91D)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GUncertain significance
Select item 1179137	NM_024753.5(TTC21B):c.264_267dupTAGA	TTC21B, TTC21B-AS1	Duplication (splice acceptor variant)	Asphyxiating thoracic dystrophy 4 +3 more	GPathogenic