CLDN12[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC123956263, LOC123956264 +4737 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 151098	GRCh38/hg38 7q21.12-21.2(chr7:87379476-91731873)x1	ABCB1, ABCB4 +78 more	Copy number loss	See cases	GLikely pathogenic
Select item 148157	GRCh38/hg38 7q21.13(chr7:89880753-90888838)x3	CDK14, CFAP69 +30 more	Copy number gain	See cases	GUncertain significance
Select item 153765	GRCh38/hg38 7q21.13(chr7:89886335-90747262)x3	CDK14, CFAP69 +28 more	Copy number gain	See cases	GUncertain significance
Select item 2338781	NM_001185072.3(CLDN12):c.10C>T (p.Arg4Trp)	CLDN12 (R4W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303105	NM_001185072.3(CLDN12):c.49G>A (p.Gly17Arg)	CLDN12 (G17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263881	NM_001185072.3(CLDN12):c.365T>A (p.Leu122Gln)	CLDN12 (L122Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620535	NM_001185072.3(CLDN12):c.535A>G (p.Ile179Val)	CLDN12 (I179V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145461	NM_001185072.3(CLDN12):c.727A>G (p.Thr243Ala)	CLDN12 (T243A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684494	GRCh37/hg19 7q21.13(chr7:88851863-90433435)x3	CDK14, CFAP69 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 815007	GRCh37/hg19 7q21.13(chr7:88533008-90192559)x1	STEAP1, GTPBP10 +4 more	Copy number loss	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 221462	GRCh37/hg19 7q21.12-21.2(chr7:87840219-91707100)x3	STEAP4, TEX47 +11 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 23