ClinVar for MedGen (Select 340923) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3581434	NM_003193.5(TBCE):c.1116+1G>T	TBCE	Single nucleotide variant (splice donor variant)	Autosomal recessive Kenny-Caffey syndrome +2 more	GLikely pathogenic
Select item 3581430	NM_003193.5(TBCE):c.736del (p.Arg246fs)	TBCE (R297fs +2 more)	Deletion (frameshift variant)	Autosomal recessive Kenny-Caffey syndrome +2 more	GLikely pathogenic
Select item 3581427	NM_003193.5(TBCE):c.561-2A>G	TBCE	Single nucleotide variant (splice acceptor variant)	Autosomal recessive Kenny-Caffey syndrome +2 more	GLikely pathogenic
Select item 3581423	NM_003193.5(TBCE):c.389A>G (p.Gln130Arg)	TBCE (Q17R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive Kenny-Caffey syndrome +2 more	GUncertain significance
Select item 3581420	NM_003193.5(TBCE):c.185+1G>C	TBCE	Single nucleotide variant (splice donor variant +1 more)	Autosomal recessive Kenny-Caffey syndrome +2 more	GLikely pathogenic
Select item 3581407	NM_003193.5(TBCE):c.34C>T (p.Arg12Ter)	TBCE (R12*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive Kenny-Caffey syndrome +2 more	GLikely pathogenic
Select item 2743364	NM_003193.5(TBCE):c.433A>T (p.Lys145Ter)	TBCE (K145* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive Kenny-Caffey syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1709569	NM_003193.5(TBCE):c.786T>G (p.Asn262Lys)	TBCE (N149K +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive Kenny-Caffey syndrome	GUncertain significance
Select item 1449541	NM_003193.5(TBCE):c.898+6T>C	TBCE	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 1386786	NM_003193.5(TBCE):c.581C>T (p.Pro194Leu)	TBCE (P81L +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1297492	NM_003193.5(TBCE):c.101-1G>C	TBCE	Single nucleotide variant (splice acceptor variant +1 more)	Hypoparathyroidism-retardation-dysmorphism syndrome +2 more	GLikely pathogenic
Select item 1033981	NM_003193.5(TBCE):c.71G>A (p.Arg24His)	TBCE (R24H)	Single nucleotide variant (missense variant +1 more)	Encephalopathy, progressive, with amyotrophy and optic atrophy +3 more	GUncertain significance
Select item 804381	NM_003193.5(TBCE):c.355_356del (p.Ile119fs)	TBCE (I119fs)	Deletion (frameshift variant +1 more)	Hypoparathyroidism-retardation-dysmorphism syndrome +1 more	GLikely pathogenic
Select item 631595	NM_003193.5(TBCE):c.100+1G>A	TBCE	Single nucleotide variant (splice donor variant)	TBCE-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 520625	NM_003193.5(TBCE):c.1491_1491+4dup	B3GALNT2, TBCE	Duplication (splice donor variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 225483	NM_003193.5(TBCE):c.143_144del (p.Lys48fs)	TBCE (K48fs)	Deletion (frameshift variant +1 more)	Hypoparathyroidism-retardation-dysmorphism syndrome +3 more	GPathogenic/Likely pathogenic
Select item 5290	NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del)	TBCE	Deletion (inframe_deletion +1 more)	not provided +2 more	GPathogenic/Likely pathogenic