1185[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 877

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 57721	GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3	C1orf167-AS1, AADACL3 +104 more	Copy number gain	See cases	GUncertain significance
Select item 150812	GRCh38/hg38 1p36.22(chr1:11737130-12006139)x3	AGTRAP, C1orf167 +28 more	Copy number gain	See cases	GUncertain significance
Select item 57722	GRCh38/hg38 1p36.22(chr1:11737130-12169786)x3	AGTRAP, C1orf167 +62 more	Copy number gain	See cases	GUncertain significance
Select item 2127962	NM_001286.5(CLCN6):c.4G>A (p.Ala2Thr)	CLCN6 (A2T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2912508	NM_001286.5(CLCN6):c.7G>A (p.Gly3Arg)	CLCN6 (G3R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1998501	NM_001286.5(CLCN6):c.16_39dup (p.Arg13_Trp14insGlySerLeuCysCysCysCysArg)	CLCN6	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1416840	NM_001286.5(CLCN6):c.13A>G (p.Arg5Gly)	CLCN6 (R5G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2760204	NM_001286.5(CLCN6):c.18del (p.Ser7fs)	CLCN6 (S7fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3145424	NM_001286.5(CLCN6):c.16G>A (p.Gly6Arg)	CLCN6 (G6R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1951169	NM_001286.5(CLCN6):c.17G>A (p.Gly6Glu)	CLCN6 (G6E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1592229	NM_001286.5(CLCN6):c.18G>A (p.Gly6=)	CLCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1555825	NM_001286.5(CLCN6):c.18G>T (p.Gly6=)	CLCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2167789	NM_001286.5(CLCN6):c.20C>T (p.Ser7Phe)	CLCN6 (S7F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2151680	NM_001286.5(CLCN6):c.22C>T (p.Leu8=)	CLCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1421056	NM_001286.5(CLCN6):c.22C>G (p.Leu8Val)	CLCN6 (L8V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1498230	NM_001286.5(CLCN6):c.37_54dup (p.Arg13_Cys18dup)	CLCN6	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2155500	NM_001286.5(CLCN6):c.37_54del (p.Arg13_Cys18del)	CLCN6	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1979468	NM_001286.5(CLCN6):c.25TGC[5] (p.Cys12_Arg13insCys)	CLCN6	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1569737	NM_001286.5(CLCN6):c.24G>A (p.Leu8=)	CLCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2844955	NM_001286.5(CLCN6):c.37_51del (p.Arg13_Cys17del)	CLCN6	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1560891	NM_001286.5(CLCN6):c.30C>T (p.Cys10=)	CLCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1405094	NM_001286.5(CLCN6):c.38G>A (p.Arg13Lys)	CLCN6 (R13K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1350261	NM_001286.5(CLCN6):c.43TGC[3] (p.Cys18del)	CLCN6 (C18del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2739643	NM_001286.5(CLCN6):c.49T>A (p.Cys17Ser)	CLCN6 (C17S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1536729	NM_001286.5(CLCN6):c.54C>T (p.Cys18=)	CLCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1374027	NM_001286.5(CLCN6):c.56G>T (p.Gly19Val)	CLCN6 (G19V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1360369	NM_001286.5(CLCN6):c.56G>C (p.Gly19Ala)	CLCN6 (G19A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1446322	NM_001286.5(CLCN6):c.68C>T (p.Thr23Ile)	CLCN6 (T23I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2170584	NM_001286.5(CLCN6):c.70C>T (p.Arg24Cys)	CLCN6 (R24C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1377481	NM_001286.5(CLCN6):c.73A>C (p.Thr25Pro)	CLCN6 (T25P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2166450	NM_001286.5(CLCN6):c.74C>T (p.Thr25Ile)	CLCN6 (T25I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1663575	NM_001286.5(CLCN6):c.75C>A (p.Thr25=)	CLCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1392490	NM_001286.5(CLCN6):c.78C>G (p.Pro26=)	CLCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1577464	NM_001286.5(CLCN6):c.81G>A (p.Glu27=)	CLCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1556894	NM_001286.5(CLCN6):c.87+10del	CLCN6	Deletion (intron variant)	not provided	GLikely benign
Select item 2893749	NM_001286.5(CLCN6):c.87+10C>T	CLCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1546040	NM_001286.5(CLCN6):c.87+13C>A	CLCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2114758	NM_001286.5(CLCN6):c.87+17G>C	CLCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973754	NM_001286.5(CLCN6):c.88-20C>T	CLCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629535	NM_001286.5(CLCN6):c.88-17C>T	CLCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1351714	NM_001286.5(CLCN6):c.88-14A>G	CLCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605640	NM_001286.5(CLCN6):c.88-10G>A	CLCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 710870	NM_001286.5(CLCN6):c.88-8T>G	CLCN6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2803906	NM_001286.5(CLCN6):c.93C>T (p.Ile31=)	CLCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1967791	NM_001286.5(CLCN6):c.103A>G (p.Thr35Ala)	CLCN6 (T35A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1403949	NM_001286.5(CLCN6):c.108GGA[5] (p.Glu39dup)	CLCN6	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1554511	NM_001286.5(CLCN6):c.111G>A (p.Glu37=)	CLCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1665293	NM_001286.5(CLCN6):c.114G>A (p.Glu38=)	CLCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3145423	NM_001286.5(CLCN6):c.117G>C (p.Glu39Asp)	CLCN6 (E39D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3345115	NM_001286.5(CLCN6):c.119A>C (p.Asp40Ala)	CLCN6 (D40A)	Single nucleotide variant (missense variant +1 more)	CLCN6-related disorder	GUncertain significance
Select item 2196413	NM_001286.5(CLCN6):c.120T>C (p.Asp40=)	CLCN6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1449303	NM_001286.5(CLCN6):c.120T>G (p.Asp40Glu)	CLCN6 (D40E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1721653	NM_001286.5(CLCN6):c.130C>A (p.Pro44Thr)	CLCN6 (P44T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2057740	NM_001286.5(CLCN6):c.139G>T (p.Asp47Tyr)	CLCN6 (D47Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2469078	NM_001286.5(CLCN6):c.143A>G (p.Tyr48Cys)	CLCN6 (Y48C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1473888	NM_001286.5(CLCN6):c.147+3G>A	CLCN6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1575939	NM_001286.5(CLCN6):c.147+14A>T	CLCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930606	NM_001286.5(CLCN6):c.147+16A>G	CLCN6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2743078	NM_001286.5(CLCN6):c.147+17C>T	CLCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1547476	NM_001286.5(CLCN6):c.147+20C>T	CLCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917193	NM_001286.5(CLCN6):c.148-17A>T	CLCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957968	NM_001286.5(CLCN6):c.148-14T>C	CLCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2135500	NM_001286.5(CLCN6):c.148-11C>T	CLCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1572089	NM_001286.5(CLCN6):c.148-11C>G	CLCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1951589	NM_001286.5(CLCN6):c.151T>G (p.Leu51Val)	CLCN6 (L51V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1901185	NM_001286.5(CLCN6):c.163C>T (p.Arg55Cys)	CLCN6 (R55C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1720730	NM_001286.5(CLCN6):c.163C>G (p.Arg55Gly)	CLCN6 (R55G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2876803	NM_001286.5(CLCN6):c.164G>A (p.Arg55His)	CLCN6 (R55H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2186746	NM_001286.5(CLCN6):c.173A>G (p.Asn58Ser)	CLCN6 (N58S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1511332	NM_001286.5(CLCN6):c.176A>G (p.Asp59Gly)	CLCN6 (D59G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1506195	NM_001286.5(CLCN6):c.194T>C (p.Leu65Ser)	CLCN6 (L65S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2788180	NM_001286.5(CLCN6):c.198G>A (p.Glu66=)	CLCN6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2008646	NM_001286.5(CLCN6):c.202A>G (p.Met68Val)	CLCN6 (M68V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3145426	NM_001286.5(CLCN6):c.204G>A (p.Met68Ile)	CLCN6 (M68I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1667992	NM_001286.5(CLCN6):c.213+6dup	CLCN6	Duplication (intron variant)	not provided	GLikely benign
Select item 1939000	NM_001286.5(CLCN6):c.213+10dup	CLCN6	Duplication (intron variant)	not provided	GLikely benign
Select item 1644402	NM_001286.5(CLCN6):c.213+11C>A	CLCN6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1951292	NM_001286.5(CLCN6):c.213+13A>G	CLCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805419	NM_001286.5(CLCN6):c.214-18C>A	CLCN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601467	NM_001286.5(CLCN6):c.214-10G>A	CLCN6	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 9