ClinVar for MedGen (Select 162911) - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342266	NM_001348800.3(ZBTB20):c.348_361del (p.His118fs)	ZBTB20 (H118fs +1 more)	Deletion (frameshift variant)	Primrose syndrome	GLikely pathogenic
Select item 3235946	NM_001348800.3(ZBTB20):c.1038dup (p.Ile347fs)	ZBTB20 (I274fs +1 more)	Duplication (frameshift variant)	Primrose syndrome	GLikely pathogenic
Select item 3003987	NM_001348800.3(ZBTB20):c.484G>A (p.Val162Met)	ZBTB20 (V89M +1 more)	Single nucleotide variant (missense variant)	Primrose syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2921295	NM_001348800.3(ZBTB20):c.1967A>G (p.His656Arg)	ZBTB20 (H656R +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GPathogenic
Select item 2672113	NM_001348800.3(ZBTB20):c.1643C>T (p.Ser548Leu)	ZBTB20 (S475L +1 more)	Single nucleotide variant (missense variant)	Primrose syndrome	GUncertain significance
Select item 2664812	NM_001348800.3(ZBTB20):c.1431dup (p.Arg478fs)	ZBTB20 (R405fs +1 more)	Duplication (frameshift variant)	Primrose syndrome	GLikely pathogenic
Select item 2664179	NM_001348800.3(ZBTB20):c.598G>T (p.Val200Leu)	ZBTB20 (V127L +1 more)	Single nucleotide variant (missense variant)	Primrose syndrome	GUncertain significance
Select item 2580194	NM_001348800.3(ZBTB20):c.1948A>C (p.Asn650His)	ZBTB20 (N577H +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GLikely pathogenic
Select item 2444410	NM_001348800.3(ZBTB20):c.11+1del	ZBTB20, ZBTB20-AS1	Deletion (intron variant +1 more)	Primrose syndrome	GLikely pathogenic
Select item 2443884	NM_001348800.3(ZBTB20):c.1931C>T (p.Thr644Ile)	ZBTB20 (T644I +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GUncertain significance
Select item 2443883	NM_001348800.3(ZBTB20):c.1024del (p.Gln342fs)	ZBTB20 (Q269fs +1 more)	Deletion (frameshift variant)	Primrose syndrome	GPathogenic
Select item 2441791	NM_001348800.3(ZBTB20):c.1845C>G (p.Phe615Leu)	ZBTB20 (F542L +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GUncertain significance
Select item 2438640	NM_001348800.3(ZBTB20):c.2090C>T (p.Pro697Leu)	ZBTB20 (P624L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2438639	NM_001348800.3(ZBTB20):c.1055A>T (p.Glu352Val)	ZBTB20 (E279V +1 more)	Single nucleotide variant (missense variant)	Primrose syndrome	GUncertain significance
Select item 1806354	NM_001348800.3(ZBTB20):c.1613A>C (p.Gln538Pro)	ZBTB20 (Q465P +1 more)	Single nucleotide variant (missense variant)	Primrose syndrome	GLikely benign
Select item 1805172	NM_001348800.3(ZBTB20):c.942G>T (p.Gln314His)	ZBTB20 (Q241H +1 more)	Single nucleotide variant (missense variant)	Primrose syndrome	GUncertain significance
Select item 1709274	NM_001348800.3(ZBTB20):c.1838G>T (p.Arg613Leu)	ZBTB20 (R540L +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GLikely pathogenic
Select item 1705716	NM_001348800.3(ZBTB20):c.744C>G (p.Tyr248Ter)	ZBTB20 (Y175* +1 more)	Single nucleotide variant (nonsense)	Primrose syndrome	GLikely pathogenic
Select item 1701622	NM_001348800.3(ZBTB20):c.2114G>T (p.Gly705Val)	ZBTB20 (G632V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1691860	NM_001348800.3(ZBTB20):c.1916G>T (p.Cys639Phe)	ZBTB20 (C566F +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GPathogenic
Select item 1686308	NM_001348800.3(ZBTB20):c.1817A>G (p.His606Arg)	ZBTB20 (H533R +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GPathogenic
Select item 1684263	NM_001348800.3(ZBTB20):c.1549_1550delinsAT (p.Ala517Met)	ZBTB20 (A444M +1 more)	Indel (missense variant)	Primrose syndrome	GLikely pathogenic
Select item 1683677	NM_001348800.3(ZBTB20):c.584A>G (p.Gln195Arg)	ZBTB20 (Q122R +1 more)	Single nucleotide variant (missense variant)	Primrose syndrome	GUncertain significance
Select item 1679137	NM_001348800.3(ZBTB20):c.1835G>A (p.Trp612Ter)	ZBTB20 (W539* +1 more)	Single nucleotide variant (nonsense +1 more)	Primrose syndrome	GUncertain significance
Select item 1339418	NM_001348800.3(ZBTB20):c.1727dup (p.Pro577fs)	ZBTB20 (P504fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1333795	NM_001348800.3(ZBTB20):c.1614G>C (p.Gln538His)	ZBTB20 (Q465H +1 more)	Single nucleotide variant (missense variant)	Primrose syndrome	GUncertain significance
Select item 1184485	NM_001348800.3(ZBTB20):c.918del (p.Glu307fs)	ZBTB20 (E234fs +1 more)	Deletion (frameshift variant)	Primrose syndrome	GLikely pathogenic
Select item 1174854	NM_001348800.3(ZBTB20):c.1794C>G (p.Phe598Leu)	ZBTB20, ZBTB20-AS1 (F525L +1 more)	Single nucleotide variant (missense variant)	Primrose syndrome	GLikely pathogenic
Select item 1067339	NM_001348800.3(ZBTB20):c.1882C>A (p.His628Asn)	ZBTB20 (H555N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1030242	NM_001348800.3(ZBTB20):c.755T>C (p.Met252Thr)	ZBTB20 (M179T +1 more)	Single nucleotide variant (missense variant)	Primrose syndrome	GUncertain significance
Select item 1030241	NM_001348800.3(ZBTB20):c.745G>A (p.Ala249Thr)	ZBTB20 (A249T +1 more)	Single nucleotide variant (missense variant)	Primrose syndrome	GUncertain significance
Select item 1030240	NM_001348800.3(ZBTB20):c.641G>A (p.Gly214Asp)	ZBTB20 (G141D +1 more)	Single nucleotide variant (missense variant)	Primrose syndrome	GUncertain significance
Select item 1030239	NM_001348800.3(ZBTB20):c.2075dup (p.Ala693fs)	ZBTB20 (A693fs +1 more)	Duplication (frameshift variant +1 more)	Primrose syndrome	GUncertain significance
Select item 975782	NM_001348800.3(ZBTB20):c.1788C>G (p.His596Gln)	ZBTB20 (H523Q +1 more)	Single nucleotide variant (missense variant)	Primrose syndrome	GLikely pathogenic
Select item 929421	NM_001348800.3(ZBTB20):c.1916G>A (p.Cys639Tyr)	ZBTB20 (C566Y +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GPathogenic
Select item 801992	NM_001348800.3(ZBTB20):c.1734T>A (p.Tyr578Ter)	ZBTB20 (Y505* +1 more)	Single nucleotide variant (nonsense)	Primrose syndrome	GLikely pathogenic
Select item 770889	NM_001348800.3(ZBTB20):c.1318G>A (p.Glu440Lys)	ZBTB20 (E440K +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 747129	NM_001348800.3(ZBTB20):c.2199C>T (p.His733=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	Primrose syndrome +1 more	GBenign/Likely benign
Select item 684507	NM_001348800.3(ZBTB20):c.1805G>A (p.Gly602Asp)	ZBTB20 (G529D +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GUncertain significance
Select item 638663	NM_001348800.3(ZBTB20):c.1862T>C (p.Leu621Pro)	ZBTB20 (L621P +1 more)	Single nucleotide variant (missense variant +1 more)	Marfanoid habitus and intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 638662	NM_001348800.3(ZBTB20):c.1939A>C (p.Ser647Arg)	ZBTB20 (S647R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +2 more	GConflicting classifications of pathogenicity
Select item 638661	NM_001348800.3(ZBTB20):c.391_397delinsAA (p.Asp131fs)	ZBTB20 (D131fs +1 more)	Indel (frameshift variant)	Intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 638660	NM_001348800.3(ZBTB20):c.1817A>C (p.His606Pro)	ZBTB20 (H606P +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome +1 more	GPathogenic
Select item 638659	NM_001348800.3(ZBTB20):c.1955A>G (p.His652Arg)	ZBTB20 (H652R +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GPathogenic
Select item 638658	NM_001348800.3(ZBTB20):c.1837C>T (p.Arg613Cys)	ZBTB20 (R613C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 638657	NM_001348800.3(ZBTB20):c.1760T>G (p.Phe587Cys)	ZBTB20 (F587C +1 more)	Single nucleotide variant (missense variant)	Primrose syndrome +1 more	GPathogenic
Select item 626309	NM_001348800.3(ZBTB20):c.1822T>C (p.Cys608Arg)	ZBTB20 (C608R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 618973	NM_001348800.3(ZBTB20):c.1800C>G (p.His600Gln)	ZBTB20 (H600Q +1 more)	Single nucleotide variant (missense variant)	Primrose syndrome	GPathogenic
Select item 421824	NM_001348800.3(ZBTB20):c.1873A>G (p.Met625Val)	ZBTB20 (M625V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 375372	NM_001348800.3(ZBTB20):c.1786C>T (p.His596Tyr)	ZBTB20 (H596Y +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 253111	NM_001164342.2(ZBTB20):c.[1847C>T;2221G>A]	ZBTB20 (S616F +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GPathogenic
Select item 218526	NM_001348800.3(ZBTB20):c.1164C>G (p.Asp388Glu)	ZBTB20 (D315E +1 more)	Single nucleotide variant (missense variant)	Primrose syndrome +3 more	GBenign/Likely benign
Select item 139450	NM_001348800.3(ZBTB20):c.1876G>A (p.Val626Met)	ZBTB20 (V626M +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GPathogenic
Select item 139449	NM_001348800.3(ZBTB20):c.1861C>T (p.Leu621Phe)	ZBTB20 (L621F +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GPathogenic
Select item 139448	NM_001348800.3(ZBTB20):c.1811A>C (p.Lys604Thr)	ZBTB20 (K604T +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome +1 more	GPathogenic/Likely pathogenic
Select item 139447	NM_001348800.3(ZBTB20):c.1805G>C (p.Gly602Ala)	ZBTB20 (G602A +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GPathogenic
Select item 139446	NM_001348800.3(ZBTB20):c.1802C>T (p.Thr601Ile)	ZBTB20 (T601I +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 139438	NM_001348800.3(ZBTB20):c.1787A>G (p.His596Arg)	ZBTB20 (H596R +1 more)	Single nucleotide variant (missense variant)	Primrose syndrome	GPathogenic
Select item 139437	NM_001348800.3(ZBTB20):c.1771C>G (p.Gln591Glu)	ZBTB20 (Q591E +1 more)	Single nucleotide variant (missense variant)	Primrose syndrome	GPathogenic
Select item 139436	NM_001348800.3(ZBTB20):c.1768A>C (p.Lys590Gln)	ZBTB20 (K590Q +1 more)	Single nucleotide variant (missense variant)	Primrose syndrome	GPathogenic

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Items: 60