ClinVar for Gene (Select 80059) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3351216	NM_001134745.3(LRRTM4):c.5-5C>T	LRRTM4	Single nucleotide variant (intron variant)	LRRTM4-related disorder	GLikely benign
Select item 3351048	NM_001134745.3(LRRTM4):c.406C>T (p.Arg136Cys)	LRRTM4 (R136C +1 more)	Single nucleotide variant (missense variant)	LRRTM4-related disorder	GUncertain significance
Select item 3292117	NM_001134745.3(LRRTM4):c.1547G>C (p.Cys516Ser)	LRRTM4 (C516S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292115	NM_001134745.3(LRRTM4):c.808C>T (p.Pro270Ser)	LRRTM4 (P270S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292114	NM_001134745.3(LRRTM4):c.1114C>T (p.His372Tyr)	LRRTM4 (H373Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121233	NM_001134745.3(LRRTM4):c.770A>G (p.Asn257Ser)	LRRTM4 (N258S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121232	NM_001134745.3(LRRTM4):c.1694T>G (p.Leu565Arg)	LRRTM4 (L565R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121231	NM_001134745.3(LRRTM4):c.1489G>A (p.Asp497Asn)	LRRTM4 (D498N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121230	NM_001134745.3(LRRTM4):c.1444C>A (p.Gln482Lys)	LRRTM4 (Q482K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121228	NM_001134745.3(LRRTM4):c.1213T>A (p.Ser405Thr)	LRRTM4 (S406T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121227	NM_001134745.3(LRRTM4):c.1120G>C (p.Val374Leu)	LRRTM4 (V374L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121226	NM_001134745.3(LRRTM4):c.1042G>A (p.Glu348Lys)	LRRTM4 (E349K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121225	NM_001134745.3(LRRTM4):c.1033A>G (p.Ile345Val)	LRRTM4 (I345V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049546	NM_001134745.3(LRRTM4):c.294C>T (p.Ser98=)	LRRTM4	Single nucleotide variant (synonymous variant)	LRRTM4-related disorder	GLikely benign
Select item 3034583	NM_001134745.3(LRRTM4):c.156C>G (p.Phe52Leu)	LRRTM4 (F52L +1 more)	Single nucleotide variant (missense variant)	LRRTM4-related disorder	GLikely benign
Select item 2538880	NM_001134745.3(LRRTM4):c.1369C>G (p.Leu457Val)	LRRTM4 (L457V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538676	NM_001134745.3(LRRTM4):c.34A>G (p.Met12Val)	LRRTM4 (M12V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510865	NM_001134745.3(LRRTM4):c.376A>G (p.Asn126Asp)	LRRTM4 (N126D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369622	NM_001134745.3(LRRTM4):c.872A>G (p.Asn291Ser)	LRRTM4 (N291S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368056	NM_001134745.3(LRRTM4):c.38G>A (p.Ser13Asn)	LRRTM4 (S13N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355751	NM_001134745.3(LRRTM4):c.1663C>G (p.Pro555Ala)	LRRTM4 (P555A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341013	NM_001134745.3(LRRTM4):c.1331A>G (p.Tyr444Cys)	LRRTM4 (Y444C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336531	NM_001134745.3(LRRTM4):c.520A>G (p.Ile174Val)	LRRTM4 (I175V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335362	NM_001134745.3(LRRTM4):c.847A>G (p.Asn283Asp)	LRRTM4 (N283D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333449	NM_001134745.3(LRRTM4):c.417C>A (p.Asp139Glu)	LRRTM4 (D140E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333448	NM_001134745.3(LRRTM4):c.416A>C (p.Asp139Ala)	LRRTM4 (D140A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313397	NM_001134745.3(LRRTM4):c.1334T>C (p.Val445Ala)	LRRTM4 (V446A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298492	NM_001134745.3(LRRTM4):c.750G>T (p.Trp250Cys)	LRRTM4 (W251C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239461	NM_001134745.3(LRRTM4):c.85G>A (p.Gly29Ser)	LRRTM4 (G29S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207859	NM_001134745.3(LRRTM4):c.1727C>T (p.Ala576Val)	LRRTM4 (A577V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807949	GRCh37/hg19 2p12(chr2:77324190-78188451)x3	LRRTM4	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526829	GRCh37/hg19 2p12(chr2:75265687-77573171)	EVA1A, GCFC2 +3 more	Copy number gain	not specified	GUncertain significance
Select item 980973	GRCh37/hg19 2p12(chr2:76035305-81220405)x1	CTNNA2, LRRTM1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 980972	GRCh37/hg19 2p12(chr2:77031161-77826116)x1	LRRTM4	Copy number loss	not provided	GUncertain significance
Select item 689089	GRCh37/hg19 2p13.1-12(chr2:74928349-77095981)x3	EVA1A, GCFC2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 687099	GRCh37/hg19 2p12(chr2:76157543-82375906)x1	CTNNA2, LRRTM1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 686814	GRCh37/hg19 2p12(chr2:76663659-77046210)x1	LRRTM4	Copy number loss	not provided	GUncertain significance
Select item 686774	GRCh37/hg19 2p12(chr2:75793425-78869861)x4	EVA1A, GCFC2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685860	GRCh37/hg19 2p13.1-12(chr2:74972080-83043893)x1	CTNNA2, EVA1A +11 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 562590	GRCh37/hg19 2p12(chr2:76596337-77093691)x3	LRRTM4	Copy number gain	not provided	GUncertain significance
Select item 562575	GRCh37/hg19 2p12(chr2:76974498-77334619)x1	LRRTM4	Copy number loss	not provided	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524191	t(2;6)(p11.2;q21)dn	LRRTM4	Translocation	not specified	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442676	GRCh37/hg19 2p12(chr2:77299996-78195043)x3	LRRTM4	Copy number gain	See cases	GUncertain significance
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 441952	GRCh37/hg19 2p12(chr2:77520872-78259733)x1	LRRTM4	Copy number loss	See cases	GUncertain significance
Select item 441666	GRCh37/hg19 2p12(chr2:77324189-78195043)x3	LRRTM4	Copy number gain	See cases	GUncertain significance
Select item 373316	NM_001134745.3(LRRTM4):c.343del (p.Ile115fs)	LRRTM4 (I115fs +1 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 226148	GRCh37/hg19 2p12(chr2:77199019-77249536)	LRRTM4	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 219027	GRCh37/hg19 2p12(chr2:77354773-78176219)x3	LRRTM4	Copy number gain	See cases	GUncertain significance
Select item 154484	GRCh38/hg38 2p12(chr2:77120615-77959416)x3	LINC01851, LOC101927967 +2 more	Copy number gain	See cases	GUncertain significance
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 60