ClinVar for MedGen (Select 1811435) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376745	NM_005324.5(H3-3B):c.50C>A (p.Pro17His)	H3-3B (P17H)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2	GUncertain significance
Select item 3376158	NM_005324.5(H3-3B):c.91C>T (p.Pro31Ser)	H3-3B (P31S)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2	GLikely pathogenic
Select item 3374710	NM_005324.5(H3-3B):c.11C>T (p.Thr4Ile)	H3-3B (T4I)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2	GLikely pathogenic
Select item 2682274	NM_005324.5(H3-3B):c.52C>T (p.Arg18Cys)	H3-3B (R18C)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2	GLikely pathogenic
Select item 2627565	NM_005324.5(H3-3B):c.328C>G (p.Leu110Val)	H3-3B (L110V)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2	GUncertain significance
Select item 2573076	NM_005324.5(H3-3B):c.376C>A (p.Gln126Lys)	H3-3B (Q126K)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2	GLikely pathogenic
Select item 1708061	NM_005324.5(H3-3B):c.35C>T (p.Thr12Ile)	H3-3B (T12I)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2	GLikely pathogenic
Select item 1697246	NM_005324.5(H3-3B):c.68C>G (p.Thr23Arg)	H3-3B (T23R)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2	GLikely pathogenic
Select item 1339275	NM_005324.5(H3-3B):c.377A>G (p.Gln126Arg)	H3-3B (Q126R)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 1339274	NM_005324.5(H3-3B):c.365C>G (p.Pro122Arg)	H3-3B (P122R)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2	GPathogenic
Select item 1339273	NM_005324.5(H3-3B):c.88G>C (p.Ala30Pro)	H3-3B (A30P)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2	GPathogenic
Select item 1183984	NM_005324.5(H3-3B):c.155T>A (p.Ile52Asn)	H3-3B (I52N)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2 +5 more	GPathogenic/Likely pathogenic
Select item 985559	NM_005324.5(H3-3B):c.25C>T (p.Arg9Cys)	H3-3B (R9C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521247	NM_005324.5(H3-3B):c.23C>T (p.Ala8Val)	H3-3B (A8V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity