2615[geneid] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 1879212	NM_001128922.2(LRRC32):c.*1626C>T	LRRC32	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2368904	NM_001128922.2(LRRC32):c.1976A>C (p.Gln659Pro)	LRRC32 (Q659P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2590474	NM_001128922.2(LRRC32):c.1958G>A (p.Arg653Gln)	LRRC32 (R543Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3291560	NM_001128922.2(LRRC32):c.1943G>C (p.Cys648Ser)	LRRC32 (C626S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3291573	NM_001128922.2(LRRC32):c.1846G>A (p.Glu616Lys)	LRRC32 (E506K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2468243	NM_001128922.2(LRRC32):c.1780G>A (p.Ala594Thr)	LRRC32 (A484T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2386777	NM_001128922.2(LRRC32):c.1774G>A (p.Val592Met)	LRRC32 (V592M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2543102	NM_001128922.2(LRRC32):c.1766G>A (p.Arg589His)	LRRC32 (R479H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3291572	NM_001128922.2(LRRC32):c.1765C>G (p.Arg589Gly)	LRRC32 (R589G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3291569	NM_001128922.2(LRRC32):c.1748C>T (p.Ala583Val)	LRRC32 (A473V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1694642	NM_001128922.2(LRRC32):c.1728C>T (p.Cys576=)	LRRC32	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2642167	NM_001128922.2(LRRC32):c.1719C>T (p.Leu573=)	LRRC32	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2597814	NM_001128922.2(LRRC32):c.1691G>A (p.Arg564Gln)	LRRC32 (R564Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 545640	NM_001128922.2(LRRC32):c.1630C>T (p.Arg544Ter)	LRRC32 (R544* +2 more)	Single nucleotide variant (nonsense +2 more)	Global developmental delay +3 more	GPathogenic/Likely pathogenic
Select item 3120551	NM_001128922.2(LRRC32):c.1591G>T (p.Ala531Ser)	LRRC32 (A421S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2208553	NM_001128922.2(LRRC32):c.1567G>A (p.Glu523Lys)	LRRC32 (E523K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2204436	NM_001128922.2(LRRC32):c.1559A>G (p.Asn520Ser)	LRRC32 (N410S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2241491	NM_001128922.2(LRRC32):c.1555C>T (p.Leu519Phe)	LRRC32 (L497F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3048653	NM_001128922.2(LRRC32):c.1553G>A (p.Arg518Gln)	LRRC32 (R408Q +2 more)	Single nucleotide variant (missense variant +2 more)	LRRC32-related disorder	GLikely benign
Select item 2556378	NM_001128922.2(LRRC32):c.1551G>T (p.Lys517Asn)	LRRC32 (K495N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2366126	NM_001128922.2(LRRC32):c.1514T>A (p.Val505Asp)	LRRC32 (V395D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2540372	NM_001128922.2(LRRC32):c.1512G>T (p.Met504Ile)	LRRC32 (M394I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2527250	NM_001128922.2(LRRC32):c.1510A>G (p.Met504Val)	LRRC32 (M394V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2222937	NM_001128922.2(LRRC32):c.1504G>A (p.Gly502Arg)	LRRC32 (G502R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3291565	NM_001128922.2(LRRC32):c.1501A>G (p.Asn501Asp)	LRRC32 (N391D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2619847	NM_001128922.2(LRRC32):c.1498G>A (p.Gly500Ser)	LRRC32 (G390S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2237278	NM_001128922.2(LRRC32):c.1472C>T (p.Ala491Val)	LRRC32 (A381V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3257062	NM_001128922.2(LRRC32):c.1467G>C (p.Leu489=)	LRRC32	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2642168	NM_001128922.2(LRRC32):c.1456T>C (p.Leu486=)	LRRC32	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2204391	NM_001128922.2(LRRC32):c.1448C>T (p.Thr483Met)	LRRC32 (T461M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255583	NM_001128922.2(LRRC32):c.1430C>T (p.Pro477Leu)	LRRC32 (P455L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3291571	NM_001128922.2(LRRC32):c.1417C>G (p.Leu473Val)	LRRC32 (L451V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2603652	NM_001128922.2(LRRC32):c.1409A>G (p.Glu470Gly)	LRRC32 (E448G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2559369	NM_001128922.2(LRRC32):c.1385C>T (p.Ala462Val)	LRRC32 (A352V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3291566	NM_001128922.2(LRRC32):c.1384G>A (p.Ala462Thr)	LRRC32 (A352T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3234221	NM_001128922.2(LRRC32):c.1378G>T (p.Ala460Ser)	LRRC32 (A350S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3053985	NM_001128922.2(LRRC32):c.1337G>A (p.Arg446His)	LRRC32 (R336H +2 more)	Single nucleotide variant (missense variant +2 more)	LRRC32-related disorder	GUncertain significance
Select item 2475933	NM_001128922.2(LRRC32):c.1337G>T (p.Arg446Leu)	LRRC32 (R336L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3357541	NM_001128922.2(LRRC32):c.1336C>T (p.Arg446Cys)	LRRC32 (R336C +2 more)	Single nucleotide variant (missense variant +2 more)	LRRC32-related disorder	GLikely benign
Select item 723320	NM_001128922.2(LRRC32):c.1320C>T (p.Ser440=)	LRRC32	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2357991	NM_001128922.2(LRRC32):c.1304G>A (p.Gly435Asp)	LRRC32 (G413D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3120549	NM_001128922.2(LRRC32):c.1303G>A (p.Gly435Ser)	LRRC32 (G325S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3120548	NM_001128922.2(LRRC32):c.1276G>C (p.Gly426Arg)	LRRC32 (G404R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2343331	NM_001128922.2(LRRC32):c.1241G>A (p.Arg414Gln)	LRRC32 (R414Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350990	NM_001128922.2(LRRC32):c.1195C>T (p.Arg399Trp)	LRRC32 (R289W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2642169	NM_001128922.2(LRRC32):c.1191C>T (p.Ala397=)	LRRC32	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2457892	NM_001128922.2(LRRC32):c.1169C>T (p.Thr390Met)	LRRC32 (T280M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2383187	NM_001128922.2(LRRC32):c.1166G>A (p.Arg389Gln)	LRRC32 (R367Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3291561	NM_001128922.2(LRRC32):c.1165C>T (p.Arg389Trp)	LRRC32 (R279W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2341378	NM_001128922.2(LRRC32):c.1072C>T (p.Arg358Cys)	LRRC32 (R248C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2257204	NM_001128922.2(LRRC32):c.1069C>T (p.Arg357Trp)	LRRC32 (R247W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3120545	NM_001128922.2(LRRC32):c.1055G>A (p.Arg352Gln)	LRRC32 (R352Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3120562	NM_001128922.2(LRRC32):c.998G>A (p.Ser333Asn)	LRRC32 (S223N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1330304	NM_001128922.2(LRRC32):c.980T>C (p.Ile327Thr)	LRRC32 (I217T +2 more)	Single nucleotide variant (missense variant +2 more)	Cleft palate, proliferative retinopathy, and developmental delay	GLikely pathogenic
Select item 2642170	NM_001128922.2(LRRC32):c.960G>A (p.Leu320=)	LRRC32	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3291568	NM_001128922.2(LRRC32):c.944C>G (p.Ser315Cys)	LRRC32 (S205C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3120561	NM_001128922.2(LRRC32):c.931G>A (p.Gly311Ser)	LRRC32 (G289S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3257014	NM_001128922.2(LRRC32):c.882C>T (p.Ser294=)	LRRC32	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3291574	NM_001128922.2(LRRC32):c.873C>A (p.His291Gln)	LRRC32 (H181Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2285957	NM_001128922.2(LRRC32):c.788C>G (p.Ala263Gly)	LRRC32 (A241G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3291562	NM_001128922.2(LRRC32):c.778G>A (p.Asp260Asn)	LRRC32 (D238N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3120560	NM_001128922.2(LRRC32):c.751C>T (p.Arg251Trp)	LRRC32 (R141W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2221746	NM_001128922.2(LRRC32):c.742C>G (p.Leu248Val)	LRRC32 (L138V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3291570	NM_001128922.2(LRRC32):c.731A>G (p.Gln244Arg)	LRRC32 (Q134R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2613543	NM_001128922.2(LRRC32):c.655C>G (p.Gln219Glu)	LRRC32 (Q109E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2328713	NM_001128922.2(LRRC32):c.625C>A (p.Leu209Ile)	LRRC32 (L187I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2642171	NM_001128922.2(LRRC32):c.592C>T (p.Arg198Cys)	LRRC32 (R176C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3250759	NM_001128922.2(LRRC32):c.579C>T (p.Phe193=)	LRRC32	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2642172	NM_001128922.2(LRRC32):c.573C>T (p.Gly191=)	LRRC32	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3120559	NM_001128922.2(LRRC32):c.570T>A (p.Asp190Glu)	LRRC32 (D80E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2541317	NM_001128922.2(LRRC32):c.542A>G (p.His181Arg)	LRRC32 (H159R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3291563	NM_001128922.2(LRRC32):c.511G>A (p.Asp171Asn)	LRRC32 (D61N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3291564	NM_001128922.2(LRRC32):c.508C>T (p.Arg170Trp)	LRRC32 (R60W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3053950	NM_001128922.2(LRRC32):c.497G>A (p.Arg166His)	LRRC32 (R144H +2 more)	Single nucleotide variant (missense variant +2 more)	LRRC32-related disorder	GUncertain significance
Select item 3120558	NM_001128922.2(LRRC32):c.496C>T (p.Arg166Cys)	LRRC32 (R166C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2366856	NM_001128922.2(LRRC32):c.427C>T (p.Arg143Trp)	LRRC32 (R121W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3120557	NM_001128922.2(LRRC32):c.404G>A (p.Ser135Asn)	LRRC32 (S113N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3120556	NM_001128922.2(LRRC32):c.376G>A (p.Val126Met)	LRRC32 (V16M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 790648	NM_001128922.2(LRRC32):c.374G>A (p.Arg125His)	LRRC32 (R103H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2345503	NM_001128922.2(LRRC32):c.341C>T (p.Ala114Val)	LRRC32 (A4V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2593701	NM_001128922.2(LRRC32):c.334G>A (p.Ala112Thr)	LRRC32 (A90T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3120555	NM_001128922.2(LRRC32):c.322C>T (p.Arg108Trp)	LRRC32 (R86W +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3120553	NM_001128922.2(LRRC32):c.249T>G (p.Asn83Lys)	LRRC32 (N83K +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2642173	NM_001128922.2(LRRC32):c.144G>A (p.Pro48=)	LRRC32	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2405971	NM_001128922.2(LRRC32):c.134C>T (p.Ser45Leu)	LRRC32 (S23L +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 3120547	NM_001128922.2(LRRC32):c.112C>A (p.Leu38Met)	LRRC32 (L38M +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3257031	NM_001128922.2(LRRC32):c.84+5_84+6dup	LRRC32 (M1fs)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 3291567	NM_001128922.2(LRRC32):c.74C>T (p.Pro25Leu)	LRRC32 (P25L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3120554	NM_001128922.2(LRRC32):c.29C>A (p.Ala10Asp)	LRRC32 (A10D)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815441	GRCh37/hg19 11q13.5(chr11:76238742-76537128)x1	EMSY, LRRC32 +1 more	Copy number loss	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 226215	GRCh37/hg19 11q13.5(chr11:76268060-76417696)	LRRC32	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 1676660	NM_001370189.1(LRRC32):c.9C>A (p.Cys3Ter)	LRRC32 (C3*)	Single nucleotide variant	Cleft palate, proliferative retinopathy, and developmental delay	GLikely pathogenic

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Items: 100