ClinVar for MedGen (Select 1648477) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506958	NM_002340.6(LSS):c.831G>C (p.Arg277Ser)	LSS (R197S +2 more)	Single nucleotide variant (missense variant)	Hypotrichosis 14	GUncertain significance
Select item 1805095	NM_002340.6(LSS):c.2149_2161del (p.Gly717fs)	LSS (G637fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 1256057	NM_002340.6(LSS):c.647G>A (p.Trp216Ter)	LSS (W136* +2 more)	Single nucleotide variant (nonsense)	Hypotrichosis 14 +2 more	GPathogenic
Select item 1256056	NM_002340.6(LSS):c.857A>G (p.Tyr286Cys)	LSS (Y206C +2 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 4 +1 more	GLikely pathogenic
Select item 1201735	NM_002340.6(LSS):c.181-27dup	LSS	Duplication (intron variant)	Cataract 44 +3 more	GBenign/Likely benign
Select item 783885	NM_002340.6(LSS):c.752C>T (p.Ala251Val)	LSS (A240V +2 more)	Single nucleotide variant (missense variant)	Cataract 44 +3 more	GBenign/Likely benign
Select item 599321	NM_002340.6(LSS):c.304C>G (p.Leu102Val)	LSS (L102V +1 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 4	GPathogenic
Select item 599320	NM_002340.6(LSS):c.743T>C (p.Leu248Pro)	LSS (L248P +2 more)	Single nucleotide variant (missense variant)	Hypotrichosis 14	GPathogenic
Select item 599319	NM_002340.6(LSS):c.1172T>C (p.Phe391Ser)	LSS (F391S +2 more)	Single nucleotide variant (missense variant)	Hypotrichosis 14	GPathogenic
Select item 221226	NM_002340.6(LSS):c.1762G>A (p.Gly588Ser)	LSS (G588S +2 more)	Single nucleotide variant (missense variant)	Hypotrichosis 14	GUncertain significance