"TTC21B-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 416983	NM_024753.5(TTC21B):c.3939T>C (p.Ser1313=)	TTC21B	Single nucleotide variant (synonymous variant)	TTC21B-related disorder +2 more	GLikely benign
Select item 1563976	NM_024753.5(TTC21B):c.3819A>G (p.Ala1273=)	TTC21B	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +4 more	GLikely benign
Select item 1149489	NM_024753.5(TTC21B):c.3798G>A (p.Pro1266=)	TTC21B	Single nucleotide variant (synonymous variant)	TTC21B-related disorder +2 more	GLikely benign
Select item 130656	NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu)	TTC21B (P1266L)	Single nucleotide variant (missense variant)	TTC21B-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1472676	NM_024753.5(TTC21B):c.3787C>T (p.Arg1263Trp)	TTC21B (R1263W)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +5 more	GUncertain significance
Select item 1482771	NM_024753.5(TTC21B):c.3545G>A (p.Arg1182His)	TTC21B (R1182H)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +4 more	GUncertain significance
Select item 1447398	NM_024753.5(TTC21B):c.3032T>C (p.Met1011Thr)	TTC21B (M1011T)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GUncertain significance
Select item 699613	NM_024753.5(TTC21B):c.2829A>G (p.Leu943=)	TTC21B	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 4 +4 more	GLikely benign
Select item 331824	NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp)	TTC21B (R939W)	Single nucleotide variant (missense variant)	TTC21B-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1456398	NM_024753.5(TTC21B):c.2754T>C (p.Asn918=)	TTC21B	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +2 more	GLikely benign
Select item 2630976	NM_024753.5(TTC21B):c.2708C>T (p.Ala903Val)	TTC21B (A903V)	Single nucleotide variant (missense variant)	TTC21B-related disorder	GUncertain significance
Select item 2927204	NM_024753.5(TTC21B):c.2658T>C (p.Ile886=)	TTC21B	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +2 more	GLikely benign
Select item 195531	NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp)	TTC21B (R863W)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1531485	NM_024753.5(TTC21B):c.2580A>G (p.Leu860=)	TTC21B	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 4 +4 more	GLikely benign
Select item 446649	NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter)	TTC21B (Q834*)	Single nucleotide variant (nonsense)	Nephronophthisis +2 more	GPathogenic/Likely pathogenic
Select item 700688	NM_024753.5(TTC21B):c.2398T>C (p.Leu800=)	TTC21B	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 4 +4 more	GLikely benign
Select item 459287	NM_024753.5(TTC21B):c.2255A>G (p.Asn752Ser)	TTC21B (N752S)	Single nucleotide variant (missense variant)	Nephronophthisis 12 +5 more	GConflicting classifications of pathogenicity
Select item 331829	NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile)	TTC21B (V743I)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 696319	NM_024753.5(TTC21B):c.2181C>T (p.Leu727=)	TTC21B	Single nucleotide variant (synonymous variant)	Nephronophthisis +2 more	GLikely benign
Select item 2137475	NM_024753.5(TTC21B):c.2101C>G (p.His701Asp)	TTC21B (H701D)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GUncertain significance
Select item 331830	NM_024753.5(TTC21B):c.2100G>A (p.Lys700=)	TTC21B	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 1583528	NM_024753.5(TTC21B):c.1923A>G (p.Gln641=)	TTC21B	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +2 more	GLikely benign
Select item 2064345	NM_024753.5(TTC21B):c.1900-4A>G	TTC21B	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +2 more	GLikely benign
Select item 1616445	NM_024753.5(TTC21B):c.1725A>G (p.Lys575=)	TTC21B	Single nucleotide variant (synonymous variant)	TTC21B-related disorder +2 more	GLikely benign
Select item 893420	NM_024753.5(TTC21B):c.1563C>T (p.His521=)	TTC21B	Single nucleotide variant (synonymous variant)	TTC21B-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1493761	NM_024753.5(TTC21B):c.1185G>A (p.Ala395=)	TTC21B	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1380329	NM_024753.5(TTC21B):c.914T>C (p.Ile305Thr)	TTC21B (I305T)	Single nucleotide variant (missense variant)	TTC21B-related disorder +4 more	GUncertain significance
Select item 942551	NM_024753.5(TTC21B):c.913A>G (p.Ile305Val)	TTC21B (I305V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 331837	NM_024753.5(TTC21B):c.795+3A>G	TTC21B	Single nucleotide variant (intron variant)	TTC21B-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 528909	NM_024753.5(TTC21B):c.783G>T (p.Gly261=)	TTC21B	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 3061435	NM_024753.5(TTC21B):c.719T>G (p.Leu240Arg)	TTC21B (L240R)	Single nucleotide variant (missense variant)	TTC21B-related disorder	GUncertain significance
Select item 198257	NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser)	TTC21B, TTC21B-AS1 (T231S)	Single nucleotide variant (missense variant)	TTC21B-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 30935	NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)	TTC21B, TTC21B-AS1 (P209L)	Single nucleotide variant (missense variant)	TTC21B-related disorder +8 more	GPathogenic/Likely pathogenic
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 528908	NM_024753.5(TTC21B):c.511G>A (p.Gly171Arg)	TTC21B, TTC21B-AS1 (G171R)	Single nucleotide variant (missense variant)	not provided +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)	Jeune thoracic dystrophy +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 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)	Jeune thoracic dystrophy +4 more	GUncertain significance
Select item 3033050	NM_024753.5(TTC21B):c.262+5G>A	TTC21B	Single nucleotide variant (intron variant)	TTC21B-related disorder	GLikely benign
Select item 510778	NM_024753.5(TTC21B):c.114C>T (p.Val38=)	TTC21B	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +3 more	GLikely benign
Select item 331842	NM_024753.5(TTC21B):c.38A>G (p.Tyr13Cys)	TTC21B (Y13C)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +5 more	GUncertain significance
Select item 2631532	NM_024753.5(TTC21B):c.3G>A (p.Met1Ile)	TTC21B (M1I)	Single nucleotide variant (missense variant +1 more)	TTC21B-related disorder	GUncertain significance
Select item 3048945	NM_024753.5(TTC21B):c.-9G>C	TTC21B	Single nucleotide variant (5 prime UTR variant)	TTC21B-related disorder	GLikely benign

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Items: 47