GLTP[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 2392283	NM_016433.4(GLTP):c.556A>G (p.Asn186Asp)	GLTP (N186D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261534	NM_016433.4(GLTP):c.542G>A (p.Arg181His)	GLTP (R181H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774903	NM_016433.4(GLTP):c.381C>T (p.Asn127=)	GLTP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2469105	NM_016433.4(GLTP):c.380A>G (p.Asn127Ser)	GLTP (N127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406112	NM_016433.4(GLTP):c.374G>A (p.Arg125His)	GLTP (R125H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347584	NM_016433.4(GLTP):c.346C>T (p.Arg116Trp)	GLTP (R116W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100377	NM_016433.4(GLTP):c.337G>A (p.Asp113Asn)	GLTP (D113N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225926	NM_016433.4(GLTP):c.314A>G (p.Gln105Arg)	GLTP (Q105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459064	NM_016433.4(GLTP):c.310A>G (p.Ile104Val)	GLTP (I104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774904	NM_016433.4(GLTP):c.306C>A (p.Arg102=)	GLTP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2217104	NM_016433.4(GLTP):c.242A>G (p.Tyr81Cys)	GLTP (Y81C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297519	NM_016433.4(GLTP):c.202C>T (p.Arg68Trp)	GLTP (R68W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486733	NM_016433.4(GLTP):c.178T>C (p.Tyr60His)	GLTP (Y60H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331336	NM_016433.4(GLTP):c.133A>G (p.Ile45Val)	GLTP (I45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247280	NM_016433.4(GLTP):c.53T>C (p.Ile18Thr)	GLTP, LOC130008720 (I18T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100378	NM_016433.4(GLTP):c.5C>T (p.Ala2Val)	GLTP, LOC130008720 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 24