ClinVar for MedGen (Select 893584) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2634820	NM_000112.4(SLC26A2):c.1600G>A (p.Gly534Arg)	SLC26A2 (G534R)	Single nucleotide variant (missense variant)	SLC26A2-related disorder	GUncertain significance
Select item 1084440	NM_000112.4(SLC26A2):c.1776A>G (p.Lys592=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +4 more	GLikely benign
Select item 942484	NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter)	SLC26A2 (E593*)	Single nucleotide variant (nonsense)	SLC26A2-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 550616	NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg)	SLC26A2 (G663R)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 4 +5 more	GConflicting classifications of pathogenicity
Select item 56016	NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)	SLC26A2 (S551fs)	Deletion (frameshift variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 4098	NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)	SLC26A2 (C653S)	Single nucleotide variant (missense variant)	3MC syndrome 2 +8 more	GPathogenic/Likely pathogenic
Select item 4097	NM_000112.4(SLC26A2):c.-26+2T>C	SLC26A2	Single nucleotide variant (splice donor variant)	Atelosteogenesis type II +7 more	GPathogenic
Select item 4092	NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)	SLC26A2 (R178*)	Single nucleotide variant (nonsense)	Sulfate transporter-related osteochondrodysplasia +7 more	GPathogenic
Select item 4089	NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	SLC26A2 (R279W)	Single nucleotide variant (missense variant)	Atelosteogenesis type II +10 more	GPathogenic/Likely pathogenic