ClinVar for MedGen (Select 340984) - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1299233	NM_003193.5(TBCE):c.155G>A (p.Ser52Asn)	TBCE (S52N)	Single nucleotide variant (missense variant +1 more)	Hypoparathyroidism-retardation-dysmorphism syndrome	GUncertain significance
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 876572	NM_003193.5(TBCE):c.*208G>A	TBCE, B3GALNT2	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism-retardation-dysmorphism syndrome	GUncertain significance
Select item 876571	NM_003193.5(TBCE):c.*133T>G	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism-retardation-dysmorphism syndrome	GUncertain significance
Select item 875578	NM_003193.5(TBCE):c.*132A>G	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism-retardation-dysmorphism syndrome	GUncertain significance
Select item 875577	NM_003193.5(TBCE):c.*39G>A	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism-retardation-dysmorphism syndrome	GUncertain significance
Select item 875576	NM_003193.5(TBCE):c.*17T>C	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism-retardation-dysmorphism syndrome	GUncertain significance
Select item 875575	NM_003193.5(TBCE):c.1400-14T>C	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	Hypoparathyroidism-retardation-dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 874637	NM_003193.5(TBCE):c.1270+9G>A	TBCE	Single nucleotide variant (intron variant)	Hypoparathyroidism-retardation-dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 874592	NM_003193.5(TBCE):c.70C>T (p.Arg24Cys)	TBCE (R24C)	Single nucleotide variant (missense variant +1 more)	Hypoparathyroidism-retardation-dysmorphism syndrome	GUncertain significance
Select item 873644	NM_003193.5(TBCE):c.963+8C>G	TBCE	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 873643	NM_003193.5(TBCE):c.835T>C (p.Leu279=)	TBCE	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 752655	NM_003193.5(TBCE):c.159C>T (p.His53=)	TBCE	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 725798	NM_003193.5(TBCE):c.101-5G>A	TBCE	Single nucleotide variant (intron variant)	Hypoparathyroidism-retardation-dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 721221	NM_003193.5(TBCE):c.667C>T (p.Arg223Trp)	TBCE (R110W +2 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism-retardation-dysmorphism syndrome +1 more	GLikely benign
Select item 709363	NM_003193.5(TBCE):c.945C>T (p.Asn315=)	TBCE	Single nucleotide variant (synonymous variant)	Hypoparathyroidism-retardation-dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 631595	NM_003193.5(TBCE):c.100+1G>A	TBCE	Single nucleotide variant (splice donor variant)	Autosomal recessive Kenny-Caffey syndrome +3 more	GConflicting classifications of pathogenicity
Select item 593381	NM_003193.5(TBCE):c.281G>A (p.Gly94Glu)	TBCE (G94E)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GLikely benign
Select item 593372	NM_003193.5(TBCE):c.191C>T (p.Pro64Leu)	TBCE (P64L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely benign
Select item 497269	NM_003193.5(TBCE):c.585C>T (p.Ser195=)	TBCE	Single nucleotide variant (synonymous variant)	Hypoparathyroidism-retardation-dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 402240	Single allele	TBCE	Deletion	Hypoparathyroidism-retardation-dysmorphism syndrome	GPathogenic
Select item 296317	NM_003193.5(TBCE):c.*177T>C	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism-retardation-dysmorphism syndrome	GUncertain significance
Select item 296316	NM_003193.5(TBCE):c.*142T>A	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 296315	NM_003193.5(TBCE):c.*108A>G	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant)	Hypoparathyroidism-retardation-dysmorphism syndrome	GLikely benign
Select item 296314	NM_003193.5(TBCE):c.60_62dup	B3GALNT2, TBCE	Duplication (3 prime UTR variant)	Hypoparathyroidism-retardation-dysmorphism syndrome	GUncertain significance
Select item 296313	NM_003193.5(TBCE):c.1577G>A (p.Arg526Gln)	B3GALNT2, TBCE (R526Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypoparathyroidism-retardation-dysmorphism syndrome +2 more	GConflicting classifications of pathogenicity
Select item 296312	NM_003193.5(TBCE):c.1492-14C>T	B3GALNT2, TBCE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 296311	NM_003193.5(TBCE):c.1397C>T (p.Pro466Leu)	B3GALNT2, LOC126806060 +1 more (P466L +2 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism-retardation-dysmorphism syndrome +2 more	GLikely benign
Select item 296310	NM_003193.5(TBCE):c.1270+4del	TBCE	Deletion (intron variant)	Hypoparathyroidism-retardation-dysmorphism syndrome	GUncertain significance
Select item 296309	NM_003193.5(TBCE):c.1263C>G (p.Leu421=)	TBCE	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 296308	NM_003193.5(TBCE):c.1253A>G (p.Tyr418Cys)	TBCE (Y418C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 296307	NM_003193.5(TBCE):c.1226A>G (p.Glu409Gly)	TBCE (E409G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 296306	NM_003193.5(TBCE):c.1125C>T (p.Pro375=)	TBCE	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 296305	NM_003193.5(TBCE):c.1068A>G (p.Leu356=)	TBCE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 296304	NM_003193.5(TBCE):c.1050A>G (p.Glu350=)	TBCE	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 296303	NM_003193.5(TBCE):c.981G>A (p.Glu327=)	TBCE	Single nucleotide variant (synonymous variant)	Hypoparathyroidism-retardation-dysmorphism syndrome	GUncertain significance
Select item 296302	NM_003193.5(TBCE):c.909G>A (p.Thr303=)	TBCE	Single nucleotide variant (synonymous variant)	Hypoparathyroidism-retardation-dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 296301	NM_003193.5(TBCE):c.808C>T (p.Leu270=)	TBCE	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 296300	NM_003193.5(TBCE):c.738-12T>A	TBCE	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 296299	NM_003193.5(TBCE):c.737+15C>T	TBCE	Single nucleotide variant (intron variant)	Hypoparathyroidism-retardation-dysmorphism syndrome	GUncertain significance
Select item 296298	NM_003193.5(TBCE):c.737+11C>T	TBCE	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 296297	NM_003193.5(TBCE):c.614T>C (p.Val205Ala)	TBCE (V205A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 296296	NM_003193.5(TBCE):c.560+5G>A	TBCE	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 296295	NM_003193.5(TBCE):c.460+14C>T	TBCE	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 296294	NM_003193.5(TBCE):c.422G>A (p.Cys141Tyr)	TBCE (C141Y +1 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism-retardation-dysmorphism syndrome +1 more	GUncertain significance
Select item 296293	NM_003193.5(TBCE):c.100+15T>G	TBCE	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 296292	NM_003193.5(TBCE):c.100+13T>G	TBCE	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 296291	NM_003193.5(TBCE):c.100+13TG[25]	TBCE	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 296290	NM_003193.5(TBCE):c.100+13TG[28]	TBCE	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 296289	NM_003193.5(TBCE):c.100+13TG[27]	TBCE	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 296288	NM_003193.5(TBCE):c.-49T>C	TBCE	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 296287	NM_003193.5(TBCE):c.-68G>C	TBCE	Single nucleotide variant (5 prime UTR variant)	Hypoparathyroidism-retardation-dysmorphism syndrome	GUncertain significance
Select item 296286	NM_003193.5(TBCE):c.-92C>G	TBCE	Single nucleotide variant (5 prime UTR variant)	Hypoparathyroidism-retardation-dysmorphism syndrome	GUncertain significance
Select item 296285	NM_003193.5(TBCE):c.-93T>A	TBCE	Single nucleotide variant (5 prime UTR variant)	Hypoparathyroidism-retardation-dysmorphism syndrome	GLikely benign
Select item 286377	NM_003193.5(TBCE):c.214C>T (p.Pro72Ser)	TBCE (P72S)	Single nucleotide variant (missense variant +1 more)	Hypoparathyroidism-retardation-dysmorphism syndrome +2 more	GBenign/Likely benign
Select item 284336	NM_003193.5(TBCE):c.446C>G (p.Ala149Gly)	TBCE (A149G +1 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism-retardation-dysmorphism syndrome +1 more	GUncertain significance
Select item 282266	NM_003193.5(TBCE):c.1465C>A (p.Leu489Ile)	B3GALNT2, TBCE (L489I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypoparathyroidism-retardation-dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 282068	NM_003193.5(TBCE):c.253A>G (p.Ile85Val)	TBCE (I85V)	Single nucleotide variant (missense variant +1 more)	Hypoparathyroidism-retardation-dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 235262	NM_003193.5(TBCE):c.998G>C (p.Ser333Thr)	TBCE (S333T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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 193652	NM_003193.5(TBCE):c.847A>T (p.Ile283Phe)	TBCE (I283F +2 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism-retardation-dysmorphism syndrome +2 more	GConflicting classifications of pathogenicity
Select item 5292	NM_003193.5(TBCE):c.1113T>A (p.Cys371Ter)	TBCE (C371* +2 more)	Single nucleotide variant (nonsense)	Hypoparathyroidism-retardation-dysmorphism syndrome	GPathogenic
Select item 5291	NM_003193.5(TBCE):c.66_67del (p.Val23fs)	TBCE (V23fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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

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Items: 67