Related gene-specific medical variations for Gene (Select 1501) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242296	GRCh37/hg19 5p15.2(chr5:11190118-11200548)x1	CTNND2	Copy number loss	not provided	GLikely pathogenic
Select item 3062810	GRCh37/hg19 5p15.2(chr5:11691081-11883119)x1	CTNND2	Copy number loss	not specified	GLikely pathogenic
Select item 3025344	NM_001332.4(CTNND2):c.2952C>T (p.Ala984=)	CTNND2, LOC126807316	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2688898	NM_001332.4(CTNND2):c.651G>C (p.Glu217Asp)	CTNND2 (E126D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2688897	NM_001332.4(CTNND2):c.3271G>A (p.Glu1091Lys)	CTNND2 (E1000K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2688896	NM_001332.4(CTNND2):c.557C>T (p.Ser186Leu)	CTNND2 (S186L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2688895	NM_001332.4(CTNND2):c.658C>T (p.Pro220Ser)	CTNND2 (P129S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2688894	NM_001332.4(CTNND2):c.2464-1G>T	CTNND2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2685148	GRCh37/hg19 5p15.2(chr5:11721503-11878801)x1	CTNND2	Copy number loss	not provided	GUncertain significance
Select item 2684408	GRCh37/hg19 5p15.2(chr5:10860642-11412767)x3	CTNND2	Copy number gain	not provided	GUncertain significance
Select item 1809382	GRCh37/hg19 5p15.2(chr5:11782719-11906269)x3	CTNND2	Copy number gain	not provided	GUncertain significance
Select item 1808418	GRCh37/hg19 5p15.2(chr5:11077558-11242465)x1	CTNND2	Copy number loss	not provided	GUncertain significance
Select item 1808398	GRCh37/hg19 5p15.2(chr5:11552229-12250731)x3	CTNND2	Copy number gain	not provided	GUncertain significance
Select item 1701662	NM_001332.4(CTNND2):c.983del (p.Pro328fs)	CTNND2 (P237fs +1 more)	Deletion (frameshift variant +1 more)	CTNND2-associated Neurodevelopmental syndrome	GUncertain significance
Select item 1701661	NM_001332.4(CTNND2):c.2887G>A (p.Val963Ile)	CTNND2, LOC126807316 (V530I +4 more)	Single nucleotide variant (missense variant +1 more)	CTNND2-associated Neurodevelopmental syndrome	GUncertain significance
Select item 1527147	GRCh37/hg19 5p15.2(chr5:11507082-11600991)	CTNND2	Copy number loss	not specified	GUncertain significance
Select item 1340769	GRCh37/hg19 5p15.2(chr5:11142662-11208440)x1	CTNND2	Copy number loss	not provided	GLikely pathogenic
Select item 1340429	GRCh37/hg19 5p15.2(chr5:11601229-11687285)x1	CTNND2	Copy number loss	not provided	GUncertain significance
Select item 1316432	NM_001332.4(CTNND2):c.2931C>T (p.Asn977=)	CTNND2, LOC126807316	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1299319	NM_001332.4:c.(1761+1_1762-1)_(3084+1_3085-1)del	CTNND2	Deletion	Delayed speech and language development +1 more	GPathogenic
Select item 1258282	NM_001332.4(CTNND2):c.2999+36T>C	CTNND2, LOC126807316	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236494	NM_001332.4(CTNND2):c.2999+37A>G	CTNND2, LOC126807316	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 979664	GRCh37/hg19 5p15.2(chr5:10968871-11038444)x1	CTNND2	Copy number loss	not provided	GUncertain significance
Select item 979514	GRCh37/hg19 5p15.2(chr5:11383308-11414552)x1	CTNND2	Copy number loss	not provided	GLikely pathogenic
Select item 814664	GRCh37/hg19 5p15.2(chr5:11572952-11600991)x1	CTNND2	Copy number loss	not provided	GUncertain significance
Select item 814663	GRCh37/hg19 5p15.2(chr5:11134771-11170014)x1	CTNND2	Copy number loss	not provided	GLikely pathogenic
Select item 722337	NM_001332.4(CTNND2):c.2904C>T (p.His968=)	CTNND2, LOC126807316	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 685367	GRCh37/hg19 5p15.2(chr5:10982554-11242601)x3	CTNND2	Copy number gain	not provided	GUncertain significance
Select item 685165	GRCh37/hg19 5p15.2(chr5:11220861-11288711)x1	CTNND2	Copy number loss	not provided	GPathogenic
Select item 563037	GRCh37/hg19 5p15.2(chr5:11691081-11883119)x1	CTNND2	Copy number loss	not provided	GUncertain significance
Select item 563036	GRCh37/hg19 5p15.2(chr5:11658210-11839340)x1	CTNND2	Copy number loss	not provided	GUncertain significance
Select item 545309	NC_000005.10:g.(?_11567352)_(11629138_?)del	CTNND2	Deletion	Schizophrenia	GLikely pathogenic
Select item 395122	GRCh37/hg19 5p15.2(chr5:11014381-12572661)x3	CTNND2	Copy number gain	See cases	GUncertain significance
Select item 155400	GRCh38/hg38 5p15.2(chr5:11175055-11208328)x3	CTNND2	Copy number gain	See cases	GUncertain significance
Select item 153457	GRCh38/hg38 5p15.2(chr5:11674668-11872176)x1	CTNND2	Copy number loss	See cases	GUncertain significance
Select item 148837	GRCh38/hg38 5p15.2(chr5:11715530-11876114)x1	CTNND2	Copy number loss	See cases	GLikely benign
Select item 60226	GRCh38/hg38 5p15.2(chr5:11388771-11462289)x1	CTNND2	Copy number loss	See cases	GUncertain significance

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Links from Gene

Items: 37