CLDN23[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59736	GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	AGPAT5, ANGPT2 +380 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 59737	GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3	AGPAT5, ANGPT2 +255 more	Copy number gain	See cases	GPathogenic
Select item 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	LINC02950, LINC03021 +393 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	AGPAT5, ANGPT2 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 148922	GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	AGPAT5, ANGPT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC126860345, LOC126860346 +1103 more	Copy number gain	See cases	GPathogenic
Select item 154529	GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1	AGPAT5, ANGPT2 +256 more	Copy number loss	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	AGPAT5, ANGPT2 +687 more	Copy number gain	See cases	GPathogenic
Select item 146221	GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1	AGPAT5, ANGPT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 145525	GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1	LOC129999826, LOC129999827 +253 more	Copy number loss	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	AGPAT5, ANGPT2 +471 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC130000150, LOC130000151 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	ADAM28, ADAM7 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MIR4660, MIR548H4 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 150028	GRCh38/hg38 8p23.2-23.1(chr8:3934205-11526939)x1	AGPAT5, ANGPT2 +259 more	Copy number loss	See cases	GPathogenic
Select item 149529	GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3	BLK, C8orf74 +256 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DUSP4, EBF2 +1018 more	Copy number gain	See cases	GPathogenic
Select item 59322	GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1	BLK, C8orf74 +258 more	Copy number loss	See cases	GPathogenic
Select item 59332	GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1	BLK, C8orf74 +260 more	Copy number loss	See cases	GPathogenic
Select item 147315	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1	BLK, C8orf74 +255 more	Copy number loss	See cases	GPathogenic
Select item 147314	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3	BLK, C8orf74 +255 more	Copy number gain	See cases	GPathogenic
Select item 59334	GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1	LOC129999842, LOC129999843 +232 more	Copy number loss	See cases	GPathogenic
Select item 57482	GRCh38/hg38 8p23.1(chr8:7411297-12182465)x3	BLK, C8orf74 +241 more	Copy number gain	See cases	GPathogenic
Select item 144766	GRCh38/hg38 8p23.1(chr8:7834379-12182465)x3	BLK, C8orf74 +217 more	Copy number gain	See cases	GPathogenic
Select item 161086	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	BLK, C8orf74 +205 more	Copy number loss	See cases	GPathogenic
Select item 152312	GRCh38/hg38 8p23.1(chr8:8222339-11984333)x1	BLK, C8orf74 +198 more	Copy number loss	See cases	GPathogenic
Select item 148798	GRCh38/hg38 8p23.1(chr8:8222339-12050329)x3	BLK, C8orf74 +199 more	Copy number gain	See cases	GLikely pathogenic
Select item 144130	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	BLK, C8orf74 +205 more	Copy number loss	See cases	GPathogenic
Select item 57060	GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1	BLK, C8orf74 +208 more	Copy number loss	See cases	GPathogenic
Select item 155213	GRCh38/hg38 8p23.1(chr8:8235544-12088347)x3	BLK, C8orf74 +196 more	Copy number gain	See cases	GPathogenic
Select item 155289	GRCh38/hg38 8p23.1(chr8:8235647-12077956)x1	BLK, C8orf74 +196 more	Copy number loss	See cases	GPathogenic
Select item 153672	GRCh38/hg38 8p23.1(chr8:8235647-12037723)x1	BLK, C8orf74 +195 more	Copy number loss	See cases	GPathogenic
Select item 152872	GRCh38/hg38 8p23.1(chr8:8253505-11422633)x1	LOC129999865, LOC129999866 +124 more	Copy number loss	See cases	GPathogenic
Select item 151010	GRCh38/hg38 8p23.1(chr8:8253505-9758024)x1	CLDN23, ERI1 +65 more	Copy number loss	See cases	GUncertain significance
Select item 149562	GRCh38/hg38 8p23.1(chr8:8253505-12003060)x1	BLK, C8orf74 +193 more	Copy number loss	See cases	GPathogenic
Select item 148431	GRCh38/hg38 8p23.1(chr8:8253505-12610034)x1	BLK, C8orf74 +207 more	Copy number loss	See cases	GPathogenic
Select item 161001	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x3	BLK, C8orf74 +189 more	Copy number gain	See cases	GPathogenic
Select item 154643	GRCh38/hg38 8p23.1(chr8:8273108-12610034)x1	BLK, C8orf74 +206 more	Copy number loss	See cases	GPathogenic
Select item 154448	GRCh38/hg38 8p23.1(chr8:8273108-9687019)x1	CLDN23, ERI1 +61 more	Copy number loss	See cases	GPathogenic
Select item 146493	GRCh38/hg38 8p23.1(chr8:8273108-12383643)x1	BLK, C8orf74 +201 more	Copy number loss	See cases	GPathogenic
Select item 146455	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x1	BLK, C8orf74 +189 more	Copy number loss	See cases	GPathogenic
Select item 145585	GRCh38/hg38 8p23.1(chr8:8273108-12546553)x3	BLK, C8orf74 +205 more	Copy number gain	See cases	GPathogenic
Select item 60347	GRCh38/hg38 8p23.1(chr8:8336212-9953226)x1	CLDN23, ERI1 +63 more	Copy number loss	See cases	GPathogenic
Select item 59640	GRCh38/hg38 8p23.1(chr8:8336212-12021806)x3	BLK, C8orf74 +188 more	Copy number gain	See cases	GPathogenic
Select item 59639	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1	BLK, C8orf74 +187 more	Copy number loss	See cases	GPathogenic
Select item 59638	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x3	BLK, C8orf74 +187 more	Copy number gain	See cases	GPathogenic
Select item 153050	GRCh38/hg38 8p23.1(chr8:8496152-9000403)x3	CLDN23, LOC105379224 +26 more	Copy number gain	See cases	GUncertain significance
Select item 144626	GRCh38/hg38 8p23.1(chr8:8545843-11814470)x1	BLK, C8orf74 +160 more	Copy number loss	See cases	GPathogenic
Select item 2618954	NM_194284.3(CLDN23):c.32T>C (p.Met11Thr)	CLDN23 (M11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558055	NM_194284.3(CLDN23):c.41C>T (p.Ala14Val)	CLDN23 (A14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256412	NM_194284.3(CLDN23):c.63C>G (p.Asn21Lys)	CLDN23 (N21K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509064	NM_194284.3(CLDN23):c.98T>G (p.Val33Gly)	CLDN23 (V33G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145496	NM_194284.3(CLDN23):c.104G>A (p.Gly35Asp)	CLDN23 (G35D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145497	NM_194284.3(CLDN23):c.175C>T (p.Arg59Cys)	CLDN23 (R59C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594900	NM_194284.3(CLDN23):c.176G>A (p.Arg59His)	CLDN23 (R59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658375	NM_194284.3(CLDN23):c.268G>A (p.Ala90Thr)	CLDN23 (A90T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2468907	NM_194284.3(CLDN23):c.329A>G (p.Asn110Ser)	CLDN23 (N110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279197	NM_194284.3(CLDN23):c.334G>A (p.Val112Met)	CLDN23 (V112M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312879	NM_194284.3(CLDN23):c.382G>A (p.Gly128Ser)	CLDN23 (G128S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2320066	NM_194284.3(CLDN23):c.458C>T (p.Thr153Met)	CLDN23 (T153M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145499	NM_194284.3(CLDN23):c.460G>T (p.Val154Leu)	CLDN23 (V154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381159	NM_194284.3(CLDN23):c.484C>G (p.Leu162Val)	CLDN23 (L162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531890	NM_194284.3(CLDN23):c.511C>A (p.Leu171Met)	CLDN23 (L171M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259676	NM_194284.3(CLDN23):c.551G>C (p.Trp184Ser)	CLDN23 (W184S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336818	NM_194284.3(CLDN23):c.592G>A (p.Ala198Thr)	CLDN23 (A198T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616353	NM_194284.3(CLDN23):c.679G>A (p.Gly227Ser)	CLDN23 (G227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522189	NM_194284.3(CLDN23):c.709C>A (p.Arg237Ser)	CLDN23 (R237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215990	NM_194284.3(CLDN23):c.743C>G (p.Pro248Arg)	CLDN23 (P248R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145500	NM_194284.3(CLDN23):c.787G>A (p.Val263Ile)	CLDN23 (V263I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285642	NM_194284.3(CLDN23):c.793G>T (p.Asp265Tyr)	CLDN23 (D265Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3063001	GRCh37/hg19 8p23.1(chr8:8207297-8672437)x3	CLDN23, MFHAS1	Copy number gain	not specified	GUncertain significance
Select item 2685297	GRCh37/hg19 8p23.1(chr8:8531012-8681444)x1	CLDN23, MFHAS1	Copy number loss	not provided	GUncertain significance
Select item 2685282	GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1	DEFB104B, DEFB105A +64 more	Copy number loss	not provided	GPathogenic
Select item 2685281	GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1	DEFB1, DEFB107A +46 more	Copy number loss	not provided	GPathogenic
Select item 2684523	GRCh37/hg19 8p23.1(chr8:8326307-8738868)x3	CLDN23, MFHAS1	Copy number gain	not provided	GUncertain significance
Select item 2684522	GRCh37/hg19 8p23.1-22(chr8:8093169-14526969)x3	BLK, C8orf48 +34 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2580328	GRCh37/hg19 8p23.3-23.1(chr8:10501-11142629)x1	AGPAT5, ANGPT2 +55 more	Copy number loss	See cases	GPathogenic
Select item 2580324	GRCh37/hg19 8p23.1(chr8:7080281-12045269)x3	BLK, C8orf74 +47 more	Copy number gain	8p23.1 duplication syndrome	GPathogenic
Select item 1808721	GRCh37/hg19 8p23.3-23.1(chr8:158049-10965627)x1	AGPAT5, ANGPT2 +53 more	Copy number loss	not provided	GPathogenic
Select item 1808400	GRCh37/hg19 8p23.1(chr8:8409391-8729438)x1	CLDN23, MFHAS1	Copy number loss	not provided	GUncertain significance
Select item 1808083	GRCh37/hg19 8p23.1(chr8:6284373-9047178)x3	AGPAT5, ANGPT2 +33 more	Copy number gain	not provided	GUncertain significance
Select item 1807804	GRCh37/hg19 8p23.1(chr8:8093066-12548732)x1	BLK, C8orf74 +29 more	Copy number loss	not provided	GPathogenic
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	ZNF705B, ZNF705D +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	ADAM32, ADAM7 +250 more	Complex	See cases	GPathogenic
Select item 1708195	GRCh37/hg19 8p23.3-23.1(chr8:158048-11281408)x1	AGPAT5, ANGPT2 +56 more	Copy number loss	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703667	GRCh37/hg19 8p23.1(chr8:8093168-11898980)	BLK, C8orf74 +23 more	Copy number gain	Neurodevelopmental delay	GPathogenic

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