ClinVar for MedGen (Select 375885) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1722313	NM_006918.5(SC5D):c.608T>C (p.Ile203Thr)	SC5D (I203T)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 1679342	NM_006918.5(SC5D):c.268_269del (p.Leu90fs)	SC5D (L90fs)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1679319	NM_006918.5(SC5D):c.535C>T (p.Pro179Ser)	SC5D (P179S)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 1333349	NM_006918.5(SC5D):c.656T>C (p.Leu219Ser)	SC5D (L219S)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 916042	NM_006918.5(SC5D):c.479C>G (p.Pro160Arg)	SC5D (P160R)	Single nucleotide variant (missense variant)	Lathosterolosis	GPathogenic
Select item 916041	NM_006918.5(SC5D):c.630C>A (p.Asp210Glu)	SC5D (D210E)	Single nucleotide variant (missense variant)	Lathosterolosis	GPathogenic
Select item 880036	NM_006918.5(SC5D):c.*4756A>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 880035	NM_006918.5(SC5D):c.*4576T>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879976	NM_006918.5(SC5D):c.*3070C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 879975	NM_006918.5(SC5D):c.*3065C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879974	NM_006918.5(SC5D):c.*3006C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879973	NM_006918.5(SC5D):c.*3003T>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879972	NM_006918.5(SC5D):c.*2879G>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879926	NM_006918.5(SC5D):c.*1468C>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GLikely benign
Select item 879925	NM_006918.5(SC5D):c.*1305A>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879883	NM_006918.5(SC5D):c.181G>A (p.Ala61Thr)	SC5D (A61T)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 879882	NM_006918.5(SC5D):c.151A>G (p.Thr51Ala)	SC5D (T51A)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 879670	NM_006918.5(SC5D):c.*4469G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879669	NM_006918.5(SC5D):c.*4454G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879668	NM_006918.5(SC5D):c.*4342C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GLikely benign
Select item 879667	NM_006918.5(SC5D):c.*4087T>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879666	NM_006918.5(SC5D):c.*3937C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879616	NM_006918.5(SC5D):c.*2873A>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879615	NM_006918.5(SC5D):c.*2864G>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879614	NM_006918.5(SC5D):c.*2802A>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879565	NM_006918.5(SC5D):c.*628C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879564	NM_006918.5(SC5D):c.*622C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879563	NM_006918.5(SC5D):c.*584C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 879562	NM_006918.5(SC5D):c.*582A>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 878882	NM_006918.5(SC5D):c.*5855G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 878286	NM_006918.5(SC5D):c.*5717C>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 878285	NM_006918.5(SC5D):c.*5440A>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 878217	NM_006918.5(SC5D):c.*3699G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GLikely benign
Select item 878154	NM_006918.5(SC5D):c.*2430C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 878153	NM_006918.5(SC5D):c.*2363G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 878152	NM_006918.5(SC5D):c.*2212C>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 878108	NM_006918.5(SC5D):c.*229G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 878107	NM_006918.5(SC5D):c.*160G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 878106	NM_006918.5(SC5D):c.*99C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 878105	NM_006918.5(SC5D):c.843A>G (p.Ser281=)	SC5D	Single nucleotide variant (synonymous variant)	Lathosterolosis	GUncertain significance
Select item 877945	NM_006918.5(SC5D):c.662C>T (p.Pro221Leu)	SC5D (P221L)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 877944	NM_006918.5(SC5D):c.624T>G (p.Ile208Met)	SC5D (I208M)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 877943	NM_006918.5(SC5D):c.344-15C>T	SC5D	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 877244	NM_006918.5(SC5D):c.*5260A>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 877243	NM_006918.5(SC5D):c.*5255A>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 877242	NM_006918.5(SC5D):c.*5210C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 877241	NM_006918.5(SC5D):c.*5200C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 877183	NM_006918.5(SC5D):c.*3246C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 877182	NM_006918.5(SC5D):c.*3196C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 877181	NM_006918.5(SC5D):c.*3175C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 877180	NM_006918.5(SC5D):c.*3116T>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 877179	NM_006918.5(SC5D):c.*3110G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 877122	NM_006918.5(SC5D):c.*1720C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 877121	NM_006918.5(SC5D):c.*1685C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 877120	NM_006918.5(SC5D):c.*1681T>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 811763	NM_006918.5(SC5D):c.442A>G (p.Lys148Glu)	SC5D (K148E)	Single nucleotide variant (missense variant)	Lathosterolosis +1 more	GUncertain significance
Select item 733321	NM_006918.5(SC5D):c.544A>G (p.Ile182Val)	SC5D (I182V)	Single nucleotide variant (missense variant)	Lathosterolosis +1 more	GBenign
Select item 677238	NM_006918.5(SC5D):c.211-8A>T	SC5D	Single nucleotide variant (intron variant)	Lathosterolosis +1 more	GBenign/Likely benign
Select item 638393	NM_006918.5(SC5D):c.223C>T (p.Arg75Ter)	SC5D (R75*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 303124	NM_006918.5(SC5D):c.*5834A>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303123	NM_006918.5(SC5D):c.*5742T>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 303122	NM_006918.5(SC5D):c.*5640T>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303121	NM_006918.5(SC5D):c.*5630C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303120	NM_006918.5(SC5D):c.*5534C>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303119	NM_006918.5(SC5D):c.*5357T>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303118	NM_006918.5(SC5D):c.*5329G>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303117	NM_006918.5(SC5D):c.*5324A>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303116	NM_006918.5(SC5D):c.5324_5325del	SC5D	Deletion (3 prime UTR variant)	Lathosterolosis	GLikely benign
Select item 303115	NM_006918.5(SC5D):c.*5282C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303114	NM_006918.5(SC5D):c.*5258del	SC5D	Deletion (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303113	NM_006918.5(SC5D):c.5239_5241del	SC5D	Deletion (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303112	NM_006918.5(SC5D):c.*5224A>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 303111	NM_006918.5(SC5D):c.*5132C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303110	NM_006918.5(SC5D):c.*5061A>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303109	NM_006918.5(SC5D):c.*5018T>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303108	NM_006918.5(SC5D):c.*4924T>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 303107	NM_006918.5(SC5D):c.*4912C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GLikely benign
Select item 303106	NM_006918.5(SC5D):c.*4752A>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303105	NM_006918.5(SC5D):c.*4597A>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303104	NM_006918.5(SC5D):c.*4432T>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303103	NM_006918.5(SC5D):c.*4400T>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303102	NM_006918.5(SC5D):c.*3955C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303101	NM_006918.5(SC5D):c.3793_3794del	SC5D	Deletion (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303100	NM_006918.5(SC5D):c.*3665C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303099	NM_006918.5(SC5D):c.*3627A>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 303098	NM_006918.5(SC5D):c.*3599C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303097	NM_006918.5(SC5D):c.*3472A>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 303096	NM_006918.5(SC5D):c.*3346G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303095	NM_006918.5(SC5D):c.*3345C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 303094	NM_006918.5(SC5D):c.*3312A>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303093	NM_006918.5(SC5D):c.*3225G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303092	NM_006918.5(SC5D):c.*3200G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303091	NM_006918.5(SC5D):c.*3184A>G	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303090	NM_006918.5(SC5D):c.*3106G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303089	NM_006918.5(SC5D):c.*3095G>A	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303088	NM_006918.5(SC5D):c.*2986C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 303087	NM_006918.5(SC5D):c.*2963del	SC5D	Deletion (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303086	NM_006918.5(SC5D):c.*2962del	SC5D	Deletion (3 prime UTR variant)	Lathosterolosis	GBenign
Select item 303085	NM_006918.5(SC5D):c.*2943C>T	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance
Select item 303084	NM_006918.5(SC5D):c.*2819T>C	SC5D	Single nucleotide variant (3 prime UTR variant)	Lathosterolosis	GUncertain significance

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