19411[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 154484	GRCh38/hg38 2p12(chr2:77120615-77959416)x3	LINC01851, LOC101927967 +2 more	Copy number gain	See cases	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 373316	NM_001134745.3(LRRTM4):c.343del (p.Ile115fs)	LRRTM4 (I115fs +1 more)	Deletion (frameshift 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 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 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 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 3351216	NM_001134745.3(LRRTM4):c.5-5C>T	LRRTM4	Single nucleotide variant (intron variant)	LRRTM4-related disorder	GLikely benign
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 60