ClinVar for Gene (Select 9170) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291149	NM_001395660.1(LPAR2):c.548G>A (p.Ser183Asn)	LPAR2 (S183N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291148	NM_001395660.1(LPAR2):c.844G>A (p.Glu282Lys)	LPAR2 (E282K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291147	NM_001395660.1(LPAR2):c.911G>A (p.Arg304His)	LPAR2 (R304H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291146	NM_001395660.1(LPAR2):c.899G>A (p.Arg300His)	LPAR2 (R300H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119705	NM_001395660.1(LPAR2):c.949C>T (p.Arg317Cys)	LPAR2 (R317C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119704	NM_001395660.1(LPAR2):c.898C>T (p.Arg300Cys)	LPAR2 (R300C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119703	NM_001395660.1(LPAR2):c.683G>A (p.Arg228His)	LPAR2 (R228H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119702	NM_001395660.1(LPAR2):c.653G>A (p.Arg218His)	LPAR2 (R218H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119701	NM_001395660.1(LPAR2):c.594C>A (p.Phe198Leu)	LPAR2 (F198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119700	NM_001395660.1(LPAR2):c.280G>T (p.Ala94Ser)	LPAR2 (A94S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119699	NM_001395660.1(LPAR2):c.1014G>T (p.Glu338Asp)	LPAR2 (E338D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 2615424	NM_001395660.1(LPAR2):c.364A>G (p.Ile122Val)	LPAR2 (I122V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546308	NM_001395660.1(LPAR2):c.121G>T (p.Val41Leu)	LPAR2 (V41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531902	NM_001395660.1(LPAR2):c.617C>A (p.Thr206Asn)	LPAR2 (T206N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513949	NM_001395660.1(LPAR2):c.884G>A (p.Arg295Gln)	LPAR2 (R295Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488854	NM_001395660.1(LPAR2):c.422G>A (p.Arg141His)	LPAR2 (R141H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477194	NM_001395660.1(LPAR2):c.620G>A (p.Arg207His)	LPAR2 (R207H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340495	NM_001395660.1(LPAR2):c.227T>G (p.Leu76Arg)	LPAR2 (L76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333176	NM_001395660.1(LPAR2):c.565G>A (p.Val189Ile)	LPAR2 (V189I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324657	NM_001395660.1(LPAR2):c.520C>T (p.Arg174Cys)	LPAR2 (R174C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324018	NM_001395660.1(LPAR2):c.-1C>G	LPAR2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2293795	NM_001395660.1(LPAR2):c.638G>T (p.Arg213Leu)	LPAR2 (R213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241856	NM_001395660.1(LPAR2):c.641G>T (p.Arg214Leu)	LPAR2 (R214L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235387	NM_001395660.1(LPAR2):c.1021C>T (p.His341Tyr)	LPAR2 (H341Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230247	NM_001395660.1(LPAR2):c.397G>A (p.Val133Met)	LPAR2 (V133M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220004	NM_001395660.1(LPAR2):c.952G>A (p.Glu318Lys)	LPAR2 (E318K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216527	NM_001395660.1(LPAR2):c.306C>A (p.Phe102Leu)	LPAR2 (F102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 790435	NM_004720.6(LPAR2):c.707C>T (p.Thr236Met)	LPAR2	Single nucleotide variant	not provided	GBenign
Select item 788836	NM_004720.6(LPAR2):c.873T>C (p.Asn291=)	LPAR2	Single nucleotide variant	not provided	GBenign
Select item 775409	NM_004720.6(LPAR2):c.102C>T (p.Val34=)	LPAR2	Single nucleotide variant	not provided	GBenign
Select item 733524	NM_004720.6(LPAR2):c.540C>T (p.Arg180=)	LPAR2	Single nucleotide variant	not provided	GBenign
Select item 716241	NM_004720.6(LPAR2):c.414G>A (p.Leu138=)	LPAR2	Single nucleotide variant	not provided	GBenign
Select item 688889	GRCh37/hg19 19p13.11(chr19:19560981-19962412)x3	ATP13A1, CILP2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 687397	GRCh37/hg19 19p13.11(chr19:19709006-19793143)x1	ATP13A1, GMIP +3 more	Copy number loss	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 44