ClinVar for Gene (Select 23566) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291153	NM_012152.3(LPAR3):c.1034G>A (p.Gly345Asp)	LPAR3 (G345D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291152	NM_012152.3(LPAR3):c.1033G>A (p.Gly345Ser)	LPAR3 (G345S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291151	NM_012152.3(LPAR3):c.171A>C (p.Lys57Asn)	LPAR3 (K57N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291150	NM_012152.3(LPAR3):c.158C>T (p.Ala53Val)	LPAR3 (A53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119712	NM_012152.3(LPAR3):c.623G>A (p.Arg208Gln)	LPAR3 (R208Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119711	NM_012152.3(LPAR3):c.565G>T (p.Val189Phe)	LPAR3 (V189F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119709	NM_012152.3(LPAR3):c.302G>A (p.Arg101His)	LPAR3 (R101H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119708	NM_012152.3(LPAR3):c.232T>C (p.Phe78Leu)	LPAR3 (F78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119707	NM_012152.3(LPAR3):c.226G>A (p.Asp76Asn)	LPAR3 (D76N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119706	NM_012152.3(LPAR3):c.173A>C (p.Asn58Thr)	LPAR3 (N58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	IFI44L, LHX8 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2616612	NM_012152.3(LPAR3):c.517A>G (p.Ile173Val)	LPAR3 (I173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616431	NM_012152.3(LPAR3):c.884A>G (p.Tyr295Cys)	LPAR3 (Y295C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604070	NM_012152.3(LPAR3):c.432G>T (p.Arg144Ser)	LPAR3 (R144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548190	NM_012152.3(LPAR3):c.248A>G (p.Tyr83Cys)	LPAR3 (Y83C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539750	NM_012152.3(LPAR3):c.622C>G (p.Arg208Gly)	LPAR3 (R208G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513785	NM_012152.3(LPAR3):c.955C>T (p.Arg319Cys)	LPAR3 (R319C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494452	NM_012152.3(LPAR3):c.919A>T (p.Met307Leu)	LPAR3 (M307L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482513	NM_012152.3(LPAR3):c.157G>A (p.Ala53Thr)	LPAR3 (A53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467094	NM_012152.3(LPAR3):c.743T>G (p.Phe248Cys)	LPAR3 (F248C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411069	NM_012152.3(LPAR3):c.691C>T (p.Arg231Trp)	LPAR3 (R231W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405157	NM_012152.3(LPAR3):c.287C>T (p.Thr96Ile)	LPAR3 (T96I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395013	NM_012152.3(LPAR3):c.313C>T (p.Arg105Cys)	LPAR3 (R105C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374614	NM_012152.3(LPAR3):c.373G>A (p.Val125Met)	LPAR3 (V125M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369189	NM_012152.3(LPAR3):c.490A>G (p.Thr164Ala)	LPAR3 (T164A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354620	NM_012152.3(LPAR3):c.970C>A (p.Pro324Thr)	LPAR3 (P324T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317679	NM_012152.3(LPAR3):c.391A>G (p.Ile131Val)	LPAR3 (I131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264176	NM_012152.3(LPAR3):c.247T>A (p.Tyr83Asn)	LPAR3 (Y83N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252805	NM_012152.3(LPAR3):c.719C>T (p.Thr240Met)	LPAR3 (T240M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228443	NM_012152.3(LPAR3):c.190C>G (p.Pro64Ala)	LPAR3 (P64A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221894	NM_012152.3(LPAR3):c.404G>A (p.Arg135Gln)	LPAR3 (R135Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 979897	GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3	LMO4, CLCA4 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 789692	NM_012152.3(LPAR3):c.825A>G (p.Lys275=)	LPAR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780244	NM_012152.3(LPAR3):c.862G>A (p.Val288Met)	LPAR3 (V288M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717261	NM_012152.3(LPAR3):c.342T>G (p.Thr114=)	LPAR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC132088736, LOC132088737 +557 more	Copy number loss	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC129930966, LOC129930967 +548 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 46