ClinVar (all) for Orgtrack (Select 504988) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 183419	NM_172362.3(KCNH1):c.1055C>A (p.Ser352Tyr)	KCNH1 (S325Y +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GPathogenic
Select item 183418	NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg)	KCNH1 (G469R +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 183417	NM_172362.3(KCNH1):c.1147G>C (p.Val383Leu)	KCNH1 (V356L +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GPathogenic
Select item 183416	NM_172362.3(KCNH1):c.1135C>G (p.Leu379Val)	KCNH1 (L352V +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GPathogenic
Select item 183415	NM_172362.3(KCNH1):c.1123G>A (p.Gly375Arg)	KCNH1 (G348R +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GPathogenic
Select item 183414	NM_001693.4(ATP6V1B2):c.1454G>C (p.Arg485Pro)	ATP6V1B2 (R485P)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 2 +1 more	GPathogenic
Select item 162520	NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val)	KCNH1 (I494V +1 more)	Single nucleotide variant (missense variant)	Temple-Baraitser syndrome +2 more	GPathogenic
Select item 162518	NM_005360.5(MAF):c.206C>G (p.Pro69Arg)	MAF (P69R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 162517	NM_005360.5(MAF):c.185C>G (p.Thr62Arg)	MAF (T62R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 162516	NM_005360.5(MAF):c.176C>T (p.Pro59Leu)	MAF (P59L)	Single nucleotide variant (missense variant)	Ayme-Gripp syndrome	GPathogenic
Select item 162515	NM_005360.5(MAF):c.176C>A (p.Pro59His)	MAF (P59H)	Single nucleotide variant (missense variant)	Ayme-Gripp syndrome	GPathogenic
Select item 162514	NM_005360.5(MAF):c.173C>T (p.Thr58Ile)	MAF (T58I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 162513	NM_005360.5(MAF):c.172A>G (p.Thr58Ala)	MAF (T58A)	Single nucleotide variant (missense variant)	Ayme-Gripp syndrome	GPathogenic
Select item 162512	NM_005360.5(MAF):c.161C>T (p.Ser54Leu)	MAF (S54L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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)	Inborn genetic diseases +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)	Primrose syndrome	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: 22