CLCN2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 508

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 155230	GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1	ABCC5, ABCC5-AS1 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 148845	GRCh38/hg38 3q27.1(chr3:183816693-184365094)x3	ABCC5, ABCC5-AS1 +63 more	Copy number gain	See cases	GUncertain significance
Select item 151178	GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1	ABCC5, ABCC5-AS1 +126 more	Copy number loss	See cases	GLikely pathogenic
Select item 57995	GRCh38/hg38 3q27.1(chr3:184200139-184656801)x3	ALG3, CAMK2N2 +35 more	Copy number gain	See cases	GPathogenic
Select item 60129	GRCh38/hg38 3q27.1(chr3:184239109-184391437)x1	EIF4G1, FAM131A +26 more	Copy number loss	See cases	GUncertain significance
Select item 147717	GRCh38/hg38 3q27.1(chr3:184242321-184389832)x3	ALG3, CAMK2N2 +24 more	Copy number gain	See cases	GBenign
Select item 3038389	NM_004366.6(CLCN2):c.*10G>A	CLCN2	Single nucleotide variant (3 prime UTR variant)	CLCN2-related disorder	GBenign
Select item 3057821	NM_004366.6(CLCN2):c.*8G>A	CLCN2	Single nucleotide variant (3 prime UTR variant)	CLCN2-related disorder	GLikely benign
Select item 2042491	NM_004366.6(CLCN2):c.2694A>G (p.Gln898=)	CLCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654319	NM_004366.6(CLCN2):c.2691C>T (p.Cys897=)	CLCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1319023	NM_004366.6(CLCN2):c.2683G>A (p.Asp895Asn)	CLCN2 (D851N +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2076832	NM_004366.6(CLCN2):c.2682C>T (p.Asp894=)	CLCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2325514	NM_004366.6(CLCN2):c.2680G>A (p.Asp894Asn)	CLCN2 (D850N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2914972	NM_004366.6(CLCN2):c.2679C>T (p.Ser893=)	CLCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1372618	NM_004366.6(CLCN2):c.2674G>A (p.Asp892Asn)	CLCN2 (D875N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938270	NM_004366.6(CLCN2):c.2673C>T (p.Ser891=)	CLCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1621558	NM_004366.6(CLCN2):c.2657G>A (p.Arg886Gln)	CLCN2 (R842Q +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1407525	NM_004366.6(CLCN2):c.2642G>A (p.Arg881His)	CLCN2 (R852H +3 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with mild cerebellar ataxia and white matter edema +4 more	GUncertain significance
Select item 1954072	NM_004366.6(CLCN2):c.2631G>A (p.Gly877=)	CLCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3145409	NM_004366.6(CLCN2):c.2623C>A (p.Leu875Ile)	CLCN2 (L846I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1342325	NM_004366.6(CLCN2):c.2623C>G (p.Leu875Val)	CLCN2 (L831V +3 more)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 11 +2 more	GUncertain significance
Select item 809573	NM_004366.6(CLCN2):c.2600C>T (p.Thr867Met)	CLCN2 (T823M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 441168	NM_004366.6(CLCN2):c.2593A>C (p.Ser865Arg)	CLCN2 (S865R +3 more)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type II	GPathogenic
Select item 1699753	NM_004366.6(CLCN2):c.2579G>A (p.Ser860Asn)	CLCN2 (S816N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2202318	NM_004366.6(CLCN2):c.2573G>A (p.Arg858Gln)	CLCN2 (R829Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771630	NM_004366.6(CLCN2):c.2556G>A (p.Pro852=)	CLCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3267558	NM_004366.6(CLCN2):c.2554C>T (p.Pro852Ser)	CLCN2 (P808S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2965799	NM_004366.6(CLCN2):c.2550C>T (p.Val850=)	CLCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3339577	NM_004366.6(CLCN2):c.2547A>G (p.Lys849=)	CLCN2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1975488	NM_004366.6(CLCN2):c.2535A>G (p.Ala845=)	CLCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1317105	NM_004366.6(CLCN2):c.2528T>G (p.Val843Gly)	CLCN2 (V799G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2694079	NM_004366.6(CLCN2):c.2518G>A (p.Glu840Lys)	CLCN2 (E796K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374710	NM_004366.6(CLCN2):c.2517C>T (p.Ile839=)	CLCN2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2298949	NM_004366.6(CLCN2):c.2515A>G (p.Ile839Val)	CLCN2 (I795V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662140	NM_004366.6(CLCN2):c.2507G>A (p.Arg836Gln)	CLCN2 (R792Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2414653	NM_004366.6(CLCN2):c.2502+15G>A	CLCN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1335551	NM_004366.6(CLCN2):c.2499G>A (p.Lys833=)	CLCN2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more	GLikely benign
Select item 771684	NM_004366.6(CLCN2):c.2487C>T (p.Ile829=)	CLCN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2271642	NM_004366.6(CLCN2):c.2480T>C (p.Ile827Thr)	CLCN2 (I810T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2869321	NM_004366.6(CLCN2):c.2469T>C (p.Ile823=)	CLCN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2780320	NM_004366.6(CLCN2):c.2450A>G (p.His817Arg)	CLCN2 (H773R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1489497	NM_004366.6(CLCN2):c.2443G>A (p.Val815Met)	CLCN2 (V771M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2813883	NM_004366.6(CLCN2):c.2431T>C (p.Ser811Pro)	CLCN2 (S767P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2040248	NM_004366.6(CLCN2):c.2425A>G (p.Ile809Val)	CLCN2 (I765V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2421763	NM_004366.6(CLCN2):c.2416-4G>A	CLCN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258732	NM_004366.6(CLCN2):c.2416-107G>T	CLCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241119	NM_004366.6(CLCN2):c.2415+147C>T	CLCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 707110	NM_004366.6(CLCN2):c.2415+9A>G	CLCN2	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more	GBenign
Select item 376979	NM_004366.6(CLCN2):c.2415+4_2415+5dup	CLCN2	Duplication (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more	GBenign/Likely benign
Select item 2199127	NM_004366.6(CLCN2):c.2415+6G>A	CLCN2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2050633	NM_004366.6(CLCN2):c.2410C>T (p.His804Tyr)	CLCN2 (H804Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1410461	NM_004366.6(CLCN2):c.2403_2410del (p.Ser802fs)	CLCN2 (S785fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2015611	NM_004366.6(CLCN2):c.2403C>T (p.Thr801=)	CLCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2037980	NM_004366.6(CLCN2):c.2400G>T (p.Arg800=)	CLCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174239	NM_004366.6(CLCN2):c.2399G>A (p.Arg800Gln)	CLCN2 (R783Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 217796	NM_004366.6(CLCN2):c.2386C>T (p.Gln796Ter)	CLCN2 (Q796* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2440122	NM_004366.6(CLCN2):c.2364C>G (p.Cys788Trp)	CLCN2 (C744W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2616985	NM_004366.6(CLCN2):c.2357G>A (p.Ser786Asn)	CLCN2 (S769N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256697	NM_004366.6(CLCN2):c.2356A>G (p.Ser786Gly)	CLCN2 (S769G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2989338	NM_004366.6(CLCN2):c.2351A>C (p.Asn784Thr)	CLCN2 (N740T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2763781	NM_004366.6(CLCN2):c.2350A>G (p.Asn784Asp)	CLCN2 (N784D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2201817	NM_004366.6(CLCN2):c.2345C>T (p.Pro782Leu)	CLCN2 (P765L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3369627	NM_004366.6(CLCN2):c.2328G>T (p.Glu776Asp)	CLCN2 (E732D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952067	NM_004366.6(CLCN2):c.2311A>G (p.Ile771Val)	CLCN2 (I727V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 758372	NM_004366.6(CLCN2):c.2311-6C>T	CLCN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019780	NM_004366.6(CLCN2):c.2311-18A>T	CLCN2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3339276	NM_004366.6(CLCN2):c.2310+15G>A	CLCN2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3257205	NM_004366.6(CLCN2):c.2294A>G (p.Glu765Gly)	CLCN2 (E721G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2510241	NM_004366.6(CLCN2):c.2293G>A (p.Glu765Lys)	CLCN2 (E748K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2147427	NM_004366.6(CLCN2):c.2291G>C (p.Gly764Ala)	CLCN2 (G747A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1938550	NM_004366.6(CLCN2):c.2285T>C (p.Leu762Pro)	CLCN2 (L718P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 217782	NM_004366.6(CLCN2):c.2279C>T (p.Ala760Val)	CLCN2 (A760V +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2179122	NM_004366.6(CLCN2):c.2277C>T (p.Asp759=)	CLCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 217781	NM_004366.6(CLCN2):c.2273G>A (p.Ser758Asn)	CLCN2 (S758N +2 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with mild cerebellar ataxia and white matter edema	Gnot provided
Select item 2049059	NM_004366.6(CLCN2):c.2272-5A>G	CLCN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1981392	NM_004366.6(CLCN2):c.2272-11C>G	CLCN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2725874	NM_004366.6(CLCN2):c.2272-15C>G	CLCN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 445441	NM_004366.6(CLCN2):c.2271+8T>G	CLCN2	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more	GBenign/Likely benign
Select item 2031298	NM_004366.6(CLCN2):c.2271+7A>G	CLCN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017311	NM_004366.6(CLCN2):c.2271+2dup	CLCN2	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2632594	NM_004366.6(CLCN2):c.2271+1_2271+2delinsCA	CLCN2	Indel (splice donor variant)	CLCN2-related disorder	GLikely pathogenic
Select item 2963205	NM_004366.6(CLCN2):c.2271A>C (p.Ala757=)	CLCN2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2671799	NM_004366.6(CLCN2):c.2270C>T (p.Ala757Val)	CLCN2 (A713V +2 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 2332431	NM_004366.6(CLCN2):c.2258G>C (p.Arg753Pro)	CLCN2 (R709P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 809574	NM_004366.6(CLCN2):c.2258G>A (p.Arg753Gln)	CLCN2 (R736Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 6