ClinVar for MedGen (Select 1673448) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065394	NM_138775.3(ALKBH8):c.1182G>A (p.Trp394Ter)	ALKBH8 (W394*)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder, autosomal recessive 71	GLikely pathogenic
Select item 3064082	NM_138775.3(ALKBH8):c.1874G>A (p.Arg625His)	ALKBH8 (R575H +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal recessive 71	GUncertain significance
Select item 3043165	NM_138775.3(ALKBH8):c.1892G>A (p.Arg631His)	ALKBH8 (R581H +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal recessive 71 +1 more	GConflicting classifications of pathogenicity
Select item 2627594	NM_138775.3(ALKBH8):c.1369_1379delinsTCA (p.Val457fs)	ALKBH8 (V457fs)	Indel (frameshift variant +2 more)	Intellectual developmental disorder, autosomal recessive 71	GUncertain significance
Select item 2442179	NM_138775.3(ALKBH8):c.982C>T (p.Arg328Ter)	ALKBH8 (R328*)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder, autosomal recessive 71	GPathogenic/Likely pathogenic
Select item 1710313	NM_138775.3(ALKBH8):c.1675del (p.Arg559fs)	ALKBH8 (R509fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder, autosomal recessive 71	GPathogenic
Select item 1527866	NM_138775.3(ALKBH8):c.844A>T (p.Met282Leu)	ALKBH8 (M282L)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal recessive 71	GUncertain significance
Select item 1325552	NM_138775.3(ALKBH8):c.1105C>T (p.Arg369Trp)	ALKBH8 (R369W)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal recessive 71	GUncertain significance
Select item 1320146	NM_138775.3(ALKBH8):c.1421_1429del (p.His474_Ala477delinsPro)	ALKBH8	Deletion (inframe_indel +2 more)	Intellectual developmental disorder, autosomal recessive 71	GLikely pathogenic
Select item 1188967	NM_138775.3(ALKBH8):c.878+31T>A	ALKBH8	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal recessive 71	GBenign
Select item 1188966	NM_138775.3(ALKBH8):c.1030+9A>G	ALKBH8	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal recessive 71 +1 more	GBenign
Select item 1188965	NM_138775.3(ALKBH8):c.1288-3C>T	ALKBH8	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal recessive 71 +1 more	GBenign
Select item 1188922	NM_138775.3(ALKBH8):c.720T>C (p.Asp240=)	ALKBH8	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder, autosomal recessive 71 +1 more	GBenign
Select item 1188921	NM_138775.3(ALKBH8):c.772-72_772-71del	ALKBH8	Microsatellite (intron variant)	Intellectual developmental disorder, autosomal recessive 71	GBenign
Select item 1098651	NM_138775.3(ALKBH8):c.1442G>A (p.Arg481His)	ALKBH8 (R431H +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal recessive 71 +1 more	GUncertain significance
Select item 721730	NM_138775.3(ALKBH8):c.1820C>G (p.Pro607Arg)	ALKBH8 (P607R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal recessive 71 +1 more	GBenign/Likely benign
Select item 636272	NM_138775.3(ALKBH8):c.1785del (p.Trp596fs)	ALKBH8 (W596fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder, autosomal recessive 71	GPathogenic
Select item 636271	NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter)	ALKBH8 (R551* +1 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder, autosomal recessive 71 +1 more	GConflicting classifications of pathogenicity