LRRC40[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 59972	GRCh38/hg38 1p31.3-31.1(chr1:67239704-71924806)x1	ANKRD13C, ANKRD13C-DT +80 more	Copy number loss	See cases	GPathogenic
Select item 148089	GRCh38/hg38 1p31.1(chr1:69324212-70840573)x1	ANKRD13C, ANKRD13C-DT +25 more	Copy number loss	See cases	GUncertain significance
Select item 3120690	NM_017768.5(LRRC40):c.1796G>T (p.Arg599Leu)	LRRC40 (R599L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592084	NM_017768.5(LRRC40):c.1796G>A (p.Arg599Gln)	LRRC40 (R599Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476764	NM_017768.5(LRRC40):c.1794C>A (p.Asp598Glu)	LRRC40 (D598E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611634	NM_017768.5(LRRC40):c.1741C>G (p.Arg581Gly)	LRRC40 (R581G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291635	NM_017768.5(LRRC40):c.1637C>T (p.Thr546Met)	LRRC40 (T546M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618642	NM_017768.5(LRRC40):c.1587G>C (p.Gln529His)	LRRC40 (Q529H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120689	NM_017768.5(LRRC40):c.1511T>C (p.Phe504Ser)	LRRC40 (F504S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316491	NM_017768.5(LRRC40):c.1496C>T (p.Thr499Met)	LRRC40 (T499M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291636	NM_017768.5(LRRC40):c.1209A>G (p.Ile403Met)	LRRC40 (I403M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770852	NM_017768.5(LRRC40):c.1162C>T (p.Pro388Ser)	LRRC40 (P388S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3120693	NM_017768.5(LRRC40):c.935G>A (p.Arg312Gln)	LRRC40 (R312Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465973	NM_017768.5(LRRC40):c.934C>T (p.Arg312Trp)	LRRC40 (R312W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210900	NM_017768.5(LRRC40):c.908C>T (p.Ser303Phe)	LRRC40 (S303F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265159	NM_017768.5(LRRC40):c.860A>G (p.His287Arg)	LRRC40 (H287R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291637	NM_017768.5(LRRC40):c.817G>C (p.Gly273Arg)	LRRC40 (G273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308468	NM_017768.5(LRRC40):c.758A>G (p.Asn253Ser)	LRRC40 (N253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205172	NM_017768.5(LRRC40):c.752G>A (p.Arg251Gln)	LRRC40 (R251Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239972	NM_017768.5(LRRC40):c.701C>T (p.Thr234Ile)	LRRC40 (T234I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291634	NM_017768.5(LRRC40):c.650A>G (p.Asn217Ser)	LRRC40 (N217S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3120692	NM_017768.5(LRRC40):c.623A>G (p.Glu208Gly)	LRRC40 (E208G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309077	NM_017768.5(LRRC40):c.592A>T (p.Ser198Cys)	LRRC40 (S198C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569768	NM_017768.5(LRRC40):c.496A>G (p.Ile166Val)	LRRC40 (I166V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528609	NM_017768.5(LRRC40):c.476A>G (p.Gln159Arg)	LRRC40 (Q159R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475231	NM_017768.5(LRRC40):c.433G>C (p.Glu145Gln)	LRRC40 (E145Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493865	NM_017768.5(LRRC40):c.424A>G (p.Ile142Val)	LRRC40 (I142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120691	NM_017768.5(LRRC40):c.361C>A (p.Pro121Thr)	LRRC40 (P121T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291638	NM_017768.5(LRRC40):c.352A>G (p.Thr118Ala)	LRRC40 (T118A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258490	NM_017768.5(LRRC40):c.313C>T (p.Pro105Ser)	LRRC40 (P105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291639	NM_017768.5(LRRC40):c.273C>A (p.Asn91Lys)	LRRC40 (N91K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120688	NM_017768.5(LRRC40):c.103G>T (p.Ala35Ser)	LRRC40 (A35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492690	NM_017768.5(LRRC40):c.38G>C (p.Arg13Pro)	LOC129930753, LRRC40 (R13P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809428	GRCh37/hg19 1p31.1(chr1:69989275-72180606)x1	ANKRD13C, CTH +8 more	Copy number loss	not provided	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 814092	GRCh37/hg19 1p31.1(chr1:70121864-70894764)x3	HHLA3, LRRC7 +4 more	Copy number gain	not provided	GLikely benign
Select item 686749	GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1	ACADM, ANKRD13C +39 more	Copy number loss	not provided	GPathogenic
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 666427	Single allele	ROR1, RPE65 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565102	GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3	AK4, ALG6 +46 more	Copy number gain	not provided	GPathogenic
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)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic

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Items: 55