ClinVar for MedGen (Select 897567) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377165	NM_001693.4(ATP6V1B2):c.1443G>A (p.Trp481Ter)	ATP6V1B2 (W481*)	Single nucleotide variant (nonsense)	Zimmermann-Laband syndrome 2	GPathogenic
Select item 3362385	NM_001693.4(ATP6V1B2):c.1192C>G (p.Leu398Val)	ATP6V1B2	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 2	GPathogenic
Select item 3254713	NM_001693.4(ATP6V1B2):c.487C>G (p.Arg163Gly)	ATP6V1B2 (R163G)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 2	GLikely pathogenic
Select item 2683930	NM_001693.4(ATP6V1B2):c.1241A>T (p.Asp414Val)	ATP6V1B2 (D414V)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 2	GUncertain significance
Select item 2572643	NM_001693.4(ATP6V1B2):c.124C>T (p.Gln42Ter)	ATP6V1B2 (Q42*)	Single nucleotide variant (nonsense)	Zimmermann-Laband syndrome 2	GLikely pathogenic
Select item 1334193	NM_001693.4(ATP6V1B2):c.1121A>G (p.Glu374Gly)	ATP6V1B2 (E374G)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 2 +1 more	GPathogenic
Select item 1192466	NM_001693.4(ATP6V1B2):c.463+6T>G	ATP6V1B2	Single nucleotide variant (intron variant)	Autosomal dominant deafness - onychodystrophy syndrome +2 more	GBenign
Select item 930988	NM_001693.4(ATP6V1B2):c.1437T>G (p.Ile479Met)	ATP6V1B2 (I479M)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 2	GUncertain significance
Select item 431094	NM_001693.4(ATP6V1B2):c.1120G>C (p.Glu374Gln)	ATP6V1B2 (E374Q)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 2	GLikely pathogenic
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