ClinVar for Gene (Select 26045) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292110	NM_015564.3(LRRTM2):c.1022G>A (p.Ser341Asn)	CTNNA1, LRRTM2 (S341N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121219	NM_015564.3(LRRTM2):c.960T>G (p.Cys320Trp)	CTNNA1, LRRTM2 (C320W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121218	NM_015564.3(LRRTM2):c.437C>T (p.Ser146Leu)	CTNNA1, LRRTM2 (S146L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121217	NM_015564.3(LRRTM2):c.178G>A (p.Asp60Asn)	CTNNA1, LRRTM2 (D60N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121216	NM_015564.3(LRRTM2):c.1468A>C (p.Thr490Pro)	CTNNA1, LRRTM2 (T490P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121215	NM_015564.3(LRRTM2):c.1158C>A (p.Ser386Arg)	CTNNA1, LRRTM2 (S386R)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2616062	NM_015564.3(LRRTM2):c.1136C>T (p.Thr379Ile)	CTNNA1, LRRTM2 (T379I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592508	NM_015564.3(LRRTM2):c.698C>T (p.Thr233Met)	CTNNA1, LRRTM2 (T233M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548191	NM_015564.3(LRRTM2):c.1214T>C (p.Val405Ala)	CTNNA1, LRRTM2 (V405A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526777	NM_015564.3(LRRTM2):c.1465C>A (p.Pro489Thr)	CTNNA1, LRRTM2 (P489T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524022	NM_015564.3(LRRTM2):c.905C>A (p.Ser302Tyr)	CTNNA1, LRRTM2 (S302Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480913	NM_015564.3(LRRTM2):c.520G>A (p.Val174Ile)	CTNNA1, LRRTM2 (V174I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427648	NC_000005.9:g.(?_136957787)_(138861289_?)del	BRD8, CDC23 +29 more	Deletion	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2424314	NC_000005.9:g.(?_138145717)_(138269778_?)dup	CTNNA1, LRRTM2	Duplication	not provided	GUncertain significance
Select item 2424313	NC_000005.9:g.(?_138117614)_(138287593_?)dup	CTNNA1, LRRTM2 +1 more	Duplication	not provided	GUncertain significance
Select item 2424309	NC_000005.9:g.(?_138117614)_(138269778_?)del	CTNNA1, LRRTM2	Deletion	not provided	GUncertain significance
Select item 2371087	NM_015564.3(LRRTM2):c.1412C>T (p.Thr471Ile)	CTNNA1, LRRTM2 (T471I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341171	NM_015564.3(LRRTM2):c.950C>T (p.Ala317Val)	CTNNA1, LRRTM2 (A317V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329191	NM_015564.3(LRRTM2):c.1112C>T (p.Ala371Val)	CTNNA1, LRRTM2 (A371V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239008	NM_015564.3(LRRTM2):c.541C>T (p.Arg181Cys)	CTNNA1, LRRTM2 (R181C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211962	NM_015564.3(LRRTM2):c.254G>C (p.Ser85Thr)	CTNNA1, LRRTM2 (S85T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809220	GRCh37/hg19 5q31.2(chr5:137893096-138868605)x3	CTNNA1, DNAJC18 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1482237	NC_000005.9:g.(?_138117614)_(138266634_?)dup	CTNNA1, LRRTM2	Duplication	not provided	GUncertain significance
Select item 1022830	NC_000005.9:g.(?_138118846)_(138269778_?)del	CTNNA1, LRRTM2	Deletion	not provided	GUncertain significance
Select item 1022829	NC_000005.9:g.(?_138088085)_(138271723_?)del	CTNNA1, LRRTM2	Deletion	not provided	GUncertain significance
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	PCDHA8, PCDHA9 +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 988915	GRCh37/hg19 5q31.2(chr5:137754277-138994590)x1	CTNNA1, DNAJC18 +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 980739	GRCh37/hg19 5q31.2(chr5:138101724-138876953)x3	CTNNA1, DNAJC18 +11 more	Copy number gain	not provided	GUncertain significance
Select item 830690	NC_000005.10:g.(?_138781925)_(138934089_?)dup	CTNNA1, LRRTM2	Duplication	not provided	GUncertain significance
Select item 685436	GRCh37/hg19 5q31.2(chr5:137865800-139097368)x1	CTNNA1, CXXC5 +15 more	Copy number loss	not provided	GPathogenic
Select item 646392	NC_000005.10:g.(?_138781915)_(138934099_?)del	CTNNA1, LOC129994750 +1 more	Deletion	not provided	GUncertain significance
Select item 641002	NC_000005.9:g.(?_138117604)_(138269788_?)dup	LRRTM2, CTNNA1 +1 more	Duplication	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, ARB2A +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 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 223788	NM_001903.5(CTNNA1):c.1063-11322A>C	CTNNA1, LRRTM2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223765	NM_001903.5(CTNNA1):c.1063-16964T>C	CTNNA1, LRRTM2	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 146377	GRCh38/hg38 5q31.2(chr5:138179894-139039890)x3	CDC23, CDC25C +49 more	Copy number gain	See cases	GUncertain significance
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 49