ClinVar for MedGen (Select 863204) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358985	NM_178172.6(GPIHBP1):c.52+2T>C	GPIHBP1	Single nucleotide variant (splice donor variant)	Hyperlipoproteinemia, type 1D	GPathogenic
Select item 3242178	NM_178172.6(GPIHBP1):c.472C>T (p.Arg158Trp)	GPIHBP1 (R158W)	Single nucleotide variant (missense variant +1 more)	Hyperlipoproteinemia, type 1D	GUncertain significance
Select item 1803904	NM_178172.6(GPIHBP1):c.397del (p.Ser133fs)	GPIHBP1 (S133fs)	Deletion (frameshift variant +1 more)	Hyperlipoproteinemia, type 1D	GLikely pathogenic
Select item 1783091	NM_178172.6(GPIHBP1):c.106G>C (p.Asp36His)	GPIHBP1 (D36H)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type 1D +1 more	GUncertain significance
Select item 1705537	NM_178172.6(GPIHBP1):c.406T>G (p.Cys136Gly)	GPIHBP1 (C136G)	Single nucleotide variant (missense variant +1 more)	Hyperlipoproteinemia, type 1D	GUncertain significance
Select item 1705446	NM_178172.6(GPIHBP1):c.272C>A (p.Thr91Asn)	GPIHBP1 (T91N)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type 1D	GUncertain significance
Select item 1687542	NM_178172.6(GPIHBP1):c.193T>C (p.Cys65Arg)	GPIHBP1 (C65R)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type 1D	GPathogenic/Likely pathogenic
Select item 1685860	NM_178172.6(GPIHBP1):c.182-1G>T	GPIHBP1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1517312	NM_178172.6(GPIHBP1):c.433C>T (p.Arg145Ter)	GPIHBP1 (R145*)	Single nucleotide variant (nonsense +1 more)	Hyperlipoproteinemia, type 1D +1 more	GConflicting classifications of pathogenicity
Select item 1207087	NM_178172.6(GPIHBP1):c.368G>A (p.Gly123Glu)	GPIHBP1 (G123E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1031306	NM_178172.6(GPIHBP1):c.323C>G (p.Thr108Arg)	GPIHBP1 (T108R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 975917	NM_178172.6(GPIHBP1):c.422G>A (p.Trp141Ter)	GPIHBP1 (W141*)	Single nucleotide variant (nonsense +1 more)	Hyperlipoproteinemia, type 1D	GLikely pathogenic
Select item 917845	NM_178172.6(GPIHBP1):c.230G>A (p.Cys77Tyr)	GPIHBP1 (C77Y)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type 1D	GLikely pathogenic
Select item 144022	NC_000008.11:g.(?_143213218)_(143217170_?)del	GPIHBP1	Deletion	Hyperlipoproteinemia, type 1D	GPathogenic
Select item 144021	NM_178172.6(GPIHBP1):c.320C>G (p.Ser107Cys)	GPIHBP1 (S107C)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type 1D	GLikely pathogenic
Select item 144020	NM_178172.6(GPIHBP1):c.194G>A (p.Cys65Tyr)	GPIHBP1 (C65Y)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I	GPathogenic
Select item 144019	NM_178172.6(GPIHBP1):c.417_433del (p.Pro140fs)	GPIHBP1 (P140fs)	Deletion (frameshift variant +1 more)	Hyperlipoproteinemia, type 1D	GPathogenic
Select item 144018	NM_178172.6(GPIHBP1):c.331A>C (p.Thr111Pro)	GPIHBP1 (T111P)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type 1D	GPathogenic
Select item 144017	NM_178172.6(GPIHBP1):c.266G>T (p.Cys89Phe)	GPIHBP1 (C89F)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type 1D	GPathogenic
Select item 144016	NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg)	GPIHBP1 (G175R)	Single nucleotide variant (missense variant +1 more)	GPIHBP1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 144015	NM_178172.6(GPIHBP1):c.202T>G (p.Cys68Gly)	GPIHBP1 (C68G)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type 1D	GPathogenic
Select item 144014	NM_178172.6(GPIHBP1):c.194G>C (p.Cys65Ser)	GPIHBP1 (C65S)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type 1D	GPathogenic
Select item 144013	NM_178172.6(GPIHBP1):c.344A>C (p.Gln115Pro)	GPIHBP1 (Q115P)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type 1D	GPathogenic

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Items: 23