LYSMD3[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +435 more	Copy number loss	See cases	GPathogenic
Select item 3235905	GRCh38/hg38 5q14.3(chr5:86235182-91734581)	ADGRV1, ARRDC3 +119 more	Copy number loss	5q14.3 microdeletion	GPathogenic
Select item 59630	GRCh38/hg38 5q14.3(chr5:86743723-92337264)x1	ADGRV1, ARRDC3 +117 more	Copy number loss	See cases	GPathogenic
Select item 152918	GRCh38/hg38 5q14.3(chr5:86766959-92148845)x1	ADGRV1, ARRDC3 +116 more	Copy number loss	See cases	GPathogenic
Select item 58097	GRCh38/hg38 5q14.3-15(chr5:87124838-93383020)x3	ADGRV1, ARRDC3 +120 more	Copy number gain	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	ADGRV1, ARB2A +276 more	Copy number loss	See cases	GPathogenic
Select item 2579178	GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1	ADGRV1, ARB2A +116 more	Copy number loss	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 147564	GRCh38/hg38 5q14.3-15(chr5:88197732-93193163)x3	LOC110120688, LOC110120744 +99 more	Copy number gain	See cases	GPathogenic
Select item 152422	GRCh38/hg38 5q14.3(chr5:88368289-92363231)x1	LOC110120744, LOC110120771 +86 more	Copy number loss	See cases	GPathogenic
Select item 59633	GRCh38/hg38 5q14.3-15(chr5:88936770-94102018)x1	ADGRV1, ARB2A +96 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +274 more	Copy number loss	See cases	GPathogenic
Select item 150737	GRCh38/hg38 5q14.3(chr5:89913177-90559619)x1	ADGRV1, CETN3 +21 more	Copy number loss	See cases	GUncertain significance
Select item 57299	GRCh38/hg38 5q14.3(chr5:90228146-91116592)x1	ADGRV1, CETN3 +27 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 2240370	NM_198273.2(LYSMD3):c.847C>T (p.His283Tyr)	LYSMD3 (H283Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2544862	NM_198273.2(LYSMD3):c.826A>T (p.Ile276Phe)	LYSMD3 (I276F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3121733	NM_198273.2(LYSMD3):c.760G>A (p.Val254Met)	LYSMD3 (V254M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2559406	NM_198273.2(LYSMD3):c.751C>A (p.His251Asn)	LYSMD3 (H251N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 744054	NM_198273.2(LYSMD3):c.711G>A (p.Leu237=)	LYSMD3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 741397	NM_198273.2(LYSMD3):c.645A>G (p.Gly215=)	LYSMD3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2364869	NM_198273.2(LYSMD3):c.628T>C (p.Tyr210His)	LYSMD3 (Y210H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2269307	NM_198273.2(LYSMD3):c.584G>A (p.Arg195His)	LYSMD3 (R195H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2240452	NM_198273.2(LYSMD3):c.583C>T (p.Arg195Cys)	LYSMD3 (R195C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 769653	NM_198273.2(LYSMD3):c.580A>T (p.Met194Leu)	LYSMD3 (M194L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2521092	NM_198273.2(LYSMD3):c.560C>T (p.Ser187Leu)	LYSMD3 (S187L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3121731	NM_198273.2(LYSMD3):c.548A>G (p.Asn183Ser)	LYSMD3 (N183S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2249314	NM_198273.2(LYSMD3):c.451C>T (p.Leu151Phe)	LYSMD3 (L151F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2346078	NM_198273.2(LYSMD3):c.392G>A (p.Arg131His)	LYSMD3 (R131H)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2222651	NM_198273.2(LYSMD3):c.355G>A (p.Glu119Lys)	LYSMD3 (R99Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364314	NM_198273.2(LYSMD3):c.350T>C (p.Leu117Ser)	LYSMD3 (L117S)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2308402	NM_198273.2(LYSMD3):c.232A>G (p.Ile78Val)	LYSMD3 (I78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380195	NM_198273.2(LYSMD3):c.169G>A (p.Asp57Asn)	LYSMD3 (D57N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121729	NM_198273.2(LYSMD3):c.102G>T (p.Glu34Asp)	LYSMD3 (E34D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562419	NM_198273.2(LYSMD3):c.89G>A (p.Ser30Asn)	LYSMD3 (S30N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3121730	NM_198273.2(LYSMD3):c.31C>T (p.Pro11Ser)	LYSMD3 (P11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707717	NC_000005.9:g.(?_88625195)_(90796047_?)inv	ADGRV1, ARRDC3 +6 more	Inversion	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 1527175	GRCh37/hg19 5q14.2-14.3(chr5:82185951-90110454)	ADGRV1, CCNH +15 more	Copy number loss	not specified	GPathogenic
Select item 1340201	GRCh37/hg19 5q14.3(chr5:89720318-90293526)x3	ADGRV1, LYSMD3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 832631	NC_000005.10:g.(?_90394064)_(90811338_?)dup	ADGRV1, CETN3 +3 more	Duplication	not provided	GUncertain significance
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814708	GRCh37/hg19 5q14.3(chr5:87611415-89975436)x3	MBLAC2, CETN3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563087	GRCh37/hg19 5q14.3-15(chr5:87399001-92675748)x3	ADGRV1, MIR9-2 +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CD14, FBXL17 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441749	GRCh37/hg19 5q14.3(chr5:87764485-90147447)x1	ADGRV1, CETN3 +5 more	Copy number loss	See cases	GPathogenic

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Items: 50