4041[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 58893	GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1	ACY3, AIP +98 more	Copy number loss	See cases	GPathogenic
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	ACTE1P, ANO1 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 148930	GRCh38/hg38 11q13.2-13.3(chr11:68205963-69580475)x3	C11orf24, CPT1A +96 more	Copy number gain	See cases	GLikely benign
Select item 1250379	NC_000011.10:g.68312389C>T	LOC130006248, LRP5	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 287479	NM_002335.4(LRP5):c.-19del	LRP5	Deletion (5 prime UTR variant)	not provided	GConflicting classifications of pathogenicity
Select item 284925	NM_002335.4(LRP5):c.-8C>T	LRP5	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2985040	NM_002335.4(LRP5):c.1A>T (p.Met1Leu)	LRP5 (M1L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 1702012	NM_002335.4(LRP5):c.1A>G (p.Met1Val)	LRP5 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	Osteogenesis imperfecta +1 more	GPathogenic/Likely pathogenic
Select item 284926	NM_002335.4(LRP5):c.9A>T (p.Ala3=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2825856	NM_002335.4(LRP5):c.11C>G (p.Ala4Gly)	LRP5 (A4G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 284927	NM_002335.4(LRP5):c.12G>A (p.Ala4=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1999684	NM_002335.4(LRP5):c.13C>G (p.Pro5Ala)	LRP5 (P5A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 284928	NM_002335.4(LRP5):c.14C>T (p.Pro5Leu)	LRP5 (P5L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1895862	NM_002335.4(LRP5):c.15G>C (p.Pro5=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 499142	NM_002335.4(LRP5):c.16C>A (p.Pro6Thr)	LRP5 (P6T)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteogenesis imperfecta +2 more	GBenign/Likely benign
Select item 1908724	NM_002335.4(LRP5):c.18C>T (p.Pro6=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2095425	NM_002335.4(LRP5):c.19G>C (p.Gly7Arg)	LRP5 (G7R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2672473	NM_002335.4(LRP5):c.22C>A (p.Pro8Thr)	LRP5 (P8T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2672474	NM_002335.4(LRP5):c.29_37dup (p.Leu12_Leu13insArgProLeu)	LRP5	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 6268	NM_002335.4(LRP5):c.29G>A (p.Trp10Ter)	LRP5 (W10*)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma	GPathogenic
Select item 1483118	NM_002335.4(LRP5):c.31C>T (p.Pro11Ser)	LRP5 (P11S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1520825	NM_002335.4(LRP5):c.34CTG[13] (p.Leu17_Leu20dup)	LRP5	Microsatellite (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1419060	NM_002335.4(LRP5):c.34CTG[14] (p.Leu16_Leu20dup)	LRP5	Microsatellite (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1304556	NM_002335.4(LRP5):c.34CTG[15] (p.Leu15_Leu20dup)	LRP5	Microsatellite (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1000329	NM_002335.4(LRP5):c.34CTG[12] (p.Leu18_Leu20dup)	LRP5	Microsatellite (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 372405	NM_002335.4(LRP5):c.34CTG[11] (p.Leu19_Leu20dup)	LRP5	Microsatellite (5 prime UTR variant +1 more)	Osteogenesis imperfecta +3 more	GConflicting classifications of pathogenicity
Select item 193231	NM_002335.4(LRP5):c.34CTG[10] (p.Leu20dup)	LRP5	Microsatellite (5 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1904218	NM_002335.4(LRP5):c.34CTG[5] (p.Leu17_Leu20del)	LRP5	Microsatellite (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1401756	NM_002335.4(LRP5):c.34CTG[4] (p.Leu16_Leu20del)	LRP5	Microsatellite (5 prime UTR variant +1 more)	not provided +8 more	GUncertain significance
Select item 286883	NM_002335.4(LRP5):c.34CTG[7] (p.Leu19_Leu20del)	LRP5	Microsatellite (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 204504	NM_002335.4(LRP5):c.34CTG[6] (p.Leu18_Leu20del)	LRP5	Microsatellite (5 prime UTR variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 193232	NM_002335.4(LRP5):c.34CTG[8] (p.Leu20del)	LRP5 (L20del)	Microsatellite (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1966646	NM_002335.4(LRP5):c.35T>C (p.Leu12Pro)	LRP5 (L12P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1477838	NM_002335.4(LRP5):c.35T>A (p.Leu12Gln)	LRP5 (L12Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +9 more	GUncertain significance
Select item 3012187	NM_002335.4(LRP5):c.37C>T (p.Leu13=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1465064	NM_002335.4(LRP5):c.40_41insCGC (p.Leu13_Leu14insPro)	LRP5	Insertion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1358496	NM_002335.4(LRP5):c.46_47insCGCTGCTGC (p.Leu15_Leu16insProLeuLeu)	LRP5	Microsatellite (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1629819	NM_002335.4(LRP5):c.42_43insTTG (p.Leu20dup)	LRP5	Insertion (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2109410	NM_002335.4(LRP5):c.47_75del (p.Leu16fs)	LRP5 (L16fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2103918	NM_002335.4(LRP5):c.46_66del (p.Leu16_Leu22del)	LRP5	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1965141	NM_002335.4(LRP5):c.43C>G (p.Leu15Val)	LRP5 (L15V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1670056	NM_002335.4(LRP5):c.51G>A (p.Leu17=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1922692	NM_002335.4(LRP5):c.54_55insTTG (p.Leu20_Ala21insLeu)	LRP5	Insertion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1635166	NM_002335.4(LRP5):c.52C>T (p.Leu18=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2090164	NM_002335.4(LRP5):c.56_61del (p.Leu19_Ala21delinsPro)	LRP5	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1625471	NM_002335.4(LRP5):c.57G>C (p.Leu19=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1309339	NM_002335.4(LRP5):c.58_69dup (p.Leu20_Cys23dup)	LRP5	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1353421	NM_002335.4(LRP5):c.59T>C (p.Leu20Pro)	LRP5 (L20P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1518411	NM_002335.4(LRP5):c.60G>A (p.Leu20=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2021766	NM_002335.4(LRP5):c.63G>C (p.Ala21=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2101541	NM_002335.4(LRP5):c.65T>C (p.Leu22Pro)	LRP5 (L22P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1944881	NM_002335.4(LRP5):c.67T>G (p.Cys23Gly)	LRP5 (C23G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2488962	NM_002335.4(LRP5):c.71G>A (p.Gly24Asp)	LRP5 (G24D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2748504	NM_002335.4(LRP5):c.73T>A (p.Cys25Ser)	LRP5 (C25S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2087596	NM_002335.4(LRP5):c.73T>C (p.Cys25Arg)	LRP5 (C25R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2002350	NM_002335.4(LRP5):c.82_91+21del	LRP5	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1542154	NM_002335.4(LRP5):c.78G>C (p.Pro26=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2126660	NM_002335.4(LRP5):c.80C>T (p.Ala27Val)	LRP5 (A27V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1493262	NM_002335.4(LRP5):c.80C>G (p.Ala27Gly)	LRP5 (A27G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1357787	NM_002335.4(LRP5):c.82_84del (p.Pro28del)	LRP5 (P28del)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3042274	NM_002335.4(LRP5):c.81C>G (p.Ala27=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	LRP5-related disorder	GLikely benign
Select item 284929	NM_002335.4(LRP5):c.90G>A (p.Ala30=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1509427	NM_002335.4(LRP5):c.91+1G>T	LRP5	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2103708	NM_002335.4(LRP5):c.91+4G>A	LRP5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1077522	NM_002335.4(LRP5):c.91+8G>A	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844220	NM_002335.4(LRP5):c.91+9G>A	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168683	NM_002335.4(LRP5):c.91+9G>C	LRP5	Single nucleotide variant (intron variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 1651689	NM_002335.4(LRP5):c.91+11G>T	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658179	NM_002335.4(LRP5):c.91+12C>T	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 284930	NM_002335.4(LRP5):c.91+13A>G	LRP5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1955540	NM_002335.4(LRP5):c.91+15G>T	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991838	NM_002335.4(LRP5):c.91+17C>G	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1608374	NM_002335.4(LRP5):c.91+17C>T	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1961232	NM_002335.4(LRP5):c.91+19G>C	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 284931	NM_002335.4(LRP5):c.91+19G>A	LRP5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1263845	NM_002335.4(LRP5):c.91+277C>G	LRP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190760	NM_002335.4(LRP5):c.92-95A>C	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971407	NM_002335.4(LRP5):c.92-20G>A	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1566440	NM_002335.4(LRP5):c.92-13T>C	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1993871	NM_002335.4(LRP5):c.92-12T>C	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654248	NM_002335.4(LRP5):c.92-12T>A	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3031230	NM_002335.4(LRP5):c.92-10T>G	LRP5	Single nucleotide variant (intron variant)	LRP5-related disorder	GLikely benign
Select item 1965459	NM_002335.4(LRP5):c.92-7C>T	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 834516	NM_002335.4(LRP5):c.92-6C>G	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995999	NM_002335.4(LRP5):c.92-5C>G	LRP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2414703	NM_002335.4(LRP5):c.95C>T (p.Ser32Leu)	LRP5 (S32L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1675020	NM_002335.4(LRP5):c.96G>A (p.Ser32=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 279843	NM_002335.4(LRP5):c.98C>T (p.Pro33Leu)	LRP5 (P33L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1974398	NM_002335.4(LRP5):c.99G>A (p.Pro33=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1124243	NM_002335.4(LRP5):c.99G>T (p.Pro33=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2168751	NM_002335.4(LRP5):c.102C>A (p.Leu34=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1657147	NM_002335.4(LRP5):c.108A>G (p.Leu36=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 960904	NM_002335.4(LRP5):c.116A>G (p.Asn39Ser)	LRP5 (N39S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1519299	NM_002335.4(LRP5):c.118C>G (p.Arg40Gly)	LRP5 (R40G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1057791	NM_002335.4(LRP5):c.119G>A (p.Arg40His)	LRP5 (R40H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 236428	NM_002335.4(LRP5):c.121C>T (p.Arg41Trp)	LRP5 (R41W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1475299	NM_002335.4(LRP5):c.122G>A (p.Arg41Gln)	LRP5 (R41Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2154753	NM_002335.4(LRP5):c.126C>T (p.Asp42=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1063280	NM_002335.4(LRP5):c.127G>A (p.Val43Ile)	LRP5 (V43I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance

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