LRRIQ3[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	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 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	LOC126805749, LOC126805750 +331 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	TYW3, UBE2U +209 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 3121095	NM_001105659.2(LRRIQ3):c.1801C>G (p.Gln601Glu)	LRRIQ3 (Q601E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309039	NM_001105659.2(LRRIQ3):c.1756T>A (p.Phe586Ile)	LRRIQ3 (N426K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400523	NM_001105659.2(LRRIQ3):c.1739G>A (p.Arg580Lys)	LRRIQ3 (D421N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382323	NM_001105659.2(LRRIQ3):c.1732T>C (p.Tyr578His)	LRRIQ3 (Y578H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 716045	NM_001105659.2(LRRIQ3):c.1718+4G>A	LRRIQ3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2240707	NM_001105659.2(LRRIQ3):c.1689G>T (p.Lys563Asn)	LRRIQ3 (K563N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313725	NM_001105659.2(LRRIQ3):c.1639G>C (p.Glu547Gln)	LRRIQ3 (E547Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235142	NM_001105659.2(LRRIQ3):c.1574G>A (p.Arg525His)	LRRIQ3 (R525H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050772	NM_001105659.2(LRRIQ3):c.1573C>T (p.Arg525Cys)	LRRIQ3 (R525C)	Single nucleotide variant (missense variant +1 more)	LRRIQ3-related disorder	GBenign
Select item 3121094	NM_001105659.2(LRRIQ3):c.1570G>A (p.Glu524Lys)	LRRIQ3 (E524K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476834	NM_001105659.2(LRRIQ3):c.1492A>G (p.Arg498Gly)	LRRIQ3 (R498G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522748	NM_001105659.2(LRRIQ3):c.1477T>A (p.Tyr493Asn)	LRRIQ3 (Y493N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389055	NM_001105659.2(LRRIQ3):c.1456G>A (p.Val486Ile)	LRRIQ3 (V486I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791798	NM_001105659.2(LRRIQ3):c.1449A>C (p.Leu483Phe)	LRRIQ3 (L483F)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2356897	NM_001105659.2(LRRIQ3):c.1430A>T (p.Glu477Val)	LRRIQ3 (E477V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327588	NM_001105659.2(LRRIQ3):c.1214A>C (p.Lys405Thr)	LRRIQ3 (K405T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350797	NM_001105659.2(LRRIQ3):c.1204C>T (p.Arg402Trp)	LRRIQ3 (R402W)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 775562	NM_001105659.2(LRRIQ3):c.1192A>G (p.Ile398Val)	LRRIQ3 (I398V)	Single nucleotide variant (missense variant)	LRRIQ3-related disorder +1 more	GBenign
Select item 3048136	NM_001105659.2(LRRIQ3):c.1164T>G (p.Thr388=)	LRRIQ3	Single nucleotide variant (synonymous variant)	LRRIQ3-related disorder	GLikely benign
Select item 3121093	NM_001105659.2(LRRIQ3):c.1149G>T (p.Gln383His)	LRRIQ3 (Q383H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121092	NM_001105659.2(LRRIQ3):c.1122A>T (p.Lys374Asn)	LRRIQ3 (K374N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121091	NM_001105659.2(LRRIQ3):c.1099A>T (p.Asn367Tyr)	LRRIQ3 (N367Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601691	NM_001105659.2(LRRIQ3):c.1073T>C (p.Ile358Thr)	LRRIQ3 (I358T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609183	NM_001105659.2(LRRIQ3):c.1039A>G (p.Thr347Ala)	LRRIQ3 (T347A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3121090	NM_001105659.2(LRRIQ3):c.1016A>C (p.Glu339Ala)	LRRIQ3 (E339A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344562	NM_001105659.2(LRRIQ3):c.1004A>T (p.Glu335Val)	LRRIQ3 (E335V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279044	NM_001105659.2(LRRIQ3):c.952G>C (p.Asp318His)	LRRIQ3 (D318H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722571	NM_001105659.2(LRRIQ3):c.877T>C (p.Tyr293His)	LRRIQ3 (Y293H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3121102	NM_001105659.2(LRRIQ3):c.829G>C (p.Glu277Gln)	LRRIQ3 (E277Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555847	NM_001105659.2(LRRIQ3):c.793G>A (p.Glu265Lys)	LRRIQ3 (E265K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121101	NM_001105659.2(LRRIQ3):c.790T>C (p.Tyr264His)	LRRIQ3 (Y264H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059800	NM_001105659.2(LRRIQ3):c.763G>A (p.Ala255Thr)	LRRIQ3 (A255T)	Single nucleotide variant (missense variant)	LRRIQ3-related disorder	GBenign
Select item 3121100	NM_001105659.2(LRRIQ3):c.744A>T (p.Lys248Asn)	LRRIQ3 (K248N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043290	NM_001105659.2(LRRIQ3):c.696A>G (p.Arg232=)	LRRIQ3	Single nucleotide variant (synonymous variant)	LRRIQ3-related disorder	GLikely benign
Select item 3234210	NM_001105659.2(LRRIQ3):c.679C>T (p.Arg227Cys)	LRRIQ3 (R227C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2234596	NM_001105659.2(LRRIQ3):c.581C>A (p.Thr194Asn)	LRRIQ3 (T194N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2635230	NM_001105659.2(LRRIQ3):c.573+1G>A	LRRIQ3	Single nucleotide variant (splice donor variant)	LRRIQ3-related disorder	GUncertain significance
Select item 723815	NM_001105659.2(LRRIQ3):c.470A>G (p.His157Arg)	LRRIQ3 (H157R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3037245	NM_001105659.2(LRRIQ3):c.466C>T (p.His156Tyr)	LRRIQ3 (H156Y)	Single nucleotide variant (missense variant)	LRRIQ3-related disorder	GBenign
Select item 3121098	NM_001105659.2(LRRIQ3):c.458C>G (p.Ala153Gly)	LRRIQ3 (A153G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345734	NM_001105659.2(LRRIQ3):c.433G>A (p.Val145Ile)	LRRIQ3 (V145I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121097	NM_001105659.2(LRRIQ3):c.425A>G (p.His142Arg)	LRRIQ3 (H142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121096	NM_001105659.2(LRRIQ3):c.310C>A (p.Leu104Ile)	LRRIQ3 (L104I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308561	NM_001105659.2(LRRIQ3):c.291G>T (p.Lys97Asn)	LRRIQ3 (K97N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716046	NM_001105659.2(LRRIQ3):c.249+1G>A	LRRIQ3	Single nucleotide variant (splice donor variant)	not provided	GLikely benign
Select item 2288167	NM_001105659.2(LRRIQ3):c.191A>G (p.Asp64Gly)	LRRIQ3 (D64G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034775	NM_001105659.2(LRRIQ3):c.160G>A (p.Val54Ile)	LRRIQ3 (V54I)	Single nucleotide variant (missense variant)	LRRIQ3-related disorder	GLikely benign
Select item 2310447	NM_001105659.2(LRRIQ3):c.73G>A (p.Glu25Lys)	LRRIQ3 (E25K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121099	NM_001105659.2(LRRIQ3):c.71G>A (p.Arg24Lys)	LRRIQ3 (R24K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052134	NM_001105659.2(LRRIQ3):c.69A>C (p.Ile23=)	LRRIQ3	Single nucleotide variant (synonymous variant)	LRRIQ3-related disorder	GLikely benign
Select item 2507612	NM_001105659.2(LRRIQ3):c.35G>A (p.Ser12Asn)	LRRIQ3 (S12N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ACADM, ADGRL2 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807962	GRCh37/hg19 1p31.1(chr1:74501101-74706387)x3	FPGT-TNNI3K, LRRIQ3 +2 more	Copy number gain	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 1341058	GRCh37/hg19 1p31.1(chr1:73209151-74812480)x3	FPGT, FPGT-TNNI3K +2 more	Copy number gain	not provided	GUncertain significance
Select item 1340425	GRCh37/hg19 1p31.1(chr1:74010838-74849251)x3	FPGT, FPGT-TNNI3K +2 more	Copy number gain	not provided	GUncertain significance
Select item 979896	GRCh37/hg19 1p31.1(chr1:74091361-74706387)x3	FPGT-TNNI3K, LRRIQ3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 816524	GRCh37/hg19 1p31.1(chr1:74129905-74702475)x3	FPGT, TNNI3K +2 more	Copy number gain	See cases	GLikely benign
Select item 686956	GRCh37/hg19 1p31.1(chr1:74501245-74575300)x1	LRRIQ3	Copy number loss	not provided	GUncertain significance
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 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 625763	GRCh37/hg19 1p31.1(chr1:71410579-78131158)	ACADM, AK5 +21 more	Copy number gain	not provided	GPathogenic
Select item 565113	GRCh37/hg19 1p31.1(chr1:74125095-75208561)x1	FPGT, ERICH3 +5 more	Copy number loss	not provided	GUncertain significance
Select item 565112	GRCh37/hg19 1p31.1(chr1:72859282-75395703)x3	TYW3, TNNI3K +5 more	Copy number gain	not provided	GUncertain significance
Select item 565111	GRCh37/hg19 1p31.1(chr1:72103442-77186974)x3	LRRIQ3, FPGT-TNNI3K +14 more	Copy number gain	not provided	GLikely pathogenic
Select item 493562	GRCh37/hg19 1p31.1(chr1:72578280-77429541)x3	ACADM, ASB17 +14 more	Copy number gain	not provided	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 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: 79