ClinVar for Gene (Select 1131) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 145

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063443	GRCh37/hg19 1q42.2-43(chr1:233813555-240578304)x1	ACTN2, ARID4B +24 more	Copy number loss	not specified	GPathogenic
Select item 3063210	GRCh37/hg19 1q43(chr1:237966553-240835685)x1	CHRM3, FMN2 +3 more	Copy number loss	not specified	GPathogenic
Select item 3063133	GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3	OR2W3, OR6F1 +81 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062677	GRCh37/hg19 1q43(chr1:239786185-242208644)x1	CHML, CHRM3 +9 more	Copy number loss	not specified	GPathogenic
Select item 3014642	NM_001375978.1(CHRM3):c.1158G>C (p.Ser386=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956081	NM_001375978.1(CHRM3):c.12C>T (p.His4=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954668	NM_001375978.1(CHRM3):c.1245C>T (p.Asp415=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913722	NM_001375978.1(CHRM3):c.591T>G (p.Phe197Leu)	CHRM3 (F197L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810632	NM_001375978.1(CHRM3):c.1280_1282del (p.Leu427del)	CHRM3 (L427del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2746731	NM_001375978.1(CHRM3):c.1327G>A (p.Val443Ile)	CHRM3 (V443I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2732196	NM_001375978.1(CHRM3):c.1082C>T (p.Thr361Met)	CHRM3 (T361M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721989	NM_001375978.1(CHRM3):c.852G>A (p.Thr284=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715655	NM_001375978.1(CHRM3):c.1158G>A (p.Ser386=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2715031	NM_001375978.1(CHRM3):c.897C>T (p.Ser299=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713722	NM_001375978.1(CHRM3):c.369T>C (p.Asn123=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712292	NM_001375978.1(CHRM3):c.1352C>T (p.Thr451Met)	CHRM3 (T451M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2605524	NM_001375978.1(CHRM3):c.1432C>T (p.Arg478Trp)	CHRM3 (R478W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	SNORA100, SPMIP3 +274 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	LOC129932908, LOC129932909 +270 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2512611	NM_001375978.1(CHRM3):c.283G>A (p.Val95Ile)	CHRM3 (V95I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490326	NM_001375978.1(CHRM3):c.29C>T (p.Ser10Leu)	CHRM3 (S10L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2423384	NC_000001.10:g.(?_240070603)_(240072524_?)dup	CHRM3	Duplication	not provided	GUncertain significance
Select item 2405584	NM_001375978.1(CHRM3):c.1216G>A (p.Asp406Asn)	CHRM3 (D406N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2373449	NM_001375978.1(CHRM3):c.973G>A (p.Glu325Lys)	CHRM3 (E325K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362407	NM_001375978.1(CHRM3):c.1571C>T (p.Thr524Ile)	CHRM3 (T524I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305790	NM_001375978.1(CHRM3):c.121A>G (p.Asn41Asp)	CHRM3 (N41D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270200	NM_001375978.1(CHRM3):c.1157C>T (p.Ser386Leu)	CHRM3 (S386L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2183253	NM_001375978.1(CHRM3):c.1303G>A (p.Val435Met)	CHRM3 (V435M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2178727	NM_001375978.1(CHRM3):c.1705C>T (p.Arg569Cys)	CHRM3 (R569C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174887	NM_001375978.1(CHRM3):c.1017C>A (p.Asn339Lys)	CHRM3 (N339K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2171324	NM_001375978.1(CHRM3):c.1201T>A (p.Leu401Met)	CHRM3 (L401M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2156740	NM_001375978.1(CHRM3):c.450A>T (p.Val150=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2139792	NM_001375978.1(CHRM3):c.1766C>A (p.Ala589Asp)	CHRM3 (A589D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2085930	NM_001375978.1(CHRM3):c.513G>C (p.Thr171=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2083567	NM_001375978.1(CHRM3):c.1083G>A (p.Thr361=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2081818	NM_001375978.1(CHRM3):c.1137C>T (p.Asn379=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081025	NM_001375978.1(CHRM3):c.9G>A (p.Leu3=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077549	NM_001375978.1(CHRM3):c.1240G>A (p.Val414Met)	CHRM3 (V414M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2067190	NM_001375978.1(CHRM3):c.1186C>A (p.Leu396Met)	CHRM3 (L396M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2062223	NM_001375978.1(CHRM3):c.1753G>A (p.Ala585Thr)	CHRM3 (A585T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060440	NM_001375978.1(CHRM3):c.1018_1020del (p.Asn340del)	CHRM3 (N340del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2056291	NM_001375978.1(CHRM3):c.159C>T (p.Asp53=)	CHRM3	Single nucleotide variant (synonymous variant)	CHRM3-related condition +1 more	GBenign/Likely benign
Select item 2048874	NM_001375978.1(CHRM3):c.1331A>C (p.Asn444Thr)	CHRM3 (N444T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1985732	NM_001375978.1(CHRM3):c.92C>G (p.Pro31Arg)	CHRM3 (P31R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985212	NM_001375978.1(CHRM3):c.214G>A (p.Ala72Thr)	CHRM3 (A72T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972599	NM_001375978.1(CHRM3):c.1548T>C (p.Phe516=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968418	NM_001375978.1(CHRM3):c.558T>C (p.Gly186=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943321	NM_001375978.1(CHRM3):c.93G>A (p.Pro31=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1935123	NM_001375978.1(CHRM3):c.131G>A (p.Arg44Gln)	CHRM3 (R44Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929873	NM_001375978.1(CHRM3):c.1057G>A (p.Asp353Asn)	CHRM3 (D353N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925404	NM_001375978.1(CHRM3):c.1116G>A (p.Pro372=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900450	NM_001375978.1(CHRM3):c.415T>C (p.Leu139=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809015	GRCh37/hg19 1q42.2-43(chr1:232827966-240750334)x1	ACTN2, ARID4B +30 more	Copy number loss	not provided	GUncertain significance
Select item 1808936	GRCh37/hg19 1q43(chr1:239652739-240352790)x3	CHRM3, FMN2	Copy number gain	not provided	GUncertain significance
Select item 1808867	GRCh37/hg19 1q43(chr1:239786186-239808882)x1	CHRM3	Copy number loss	not provided	GUncertain significance
Select item 1808740	GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1	ACTN2, ARID4B +40 more	Copy number loss	not provided	GPathogenic
Select item 1808659	GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1	ADSS2, AHCTF1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1696763	NM_001375978.1(CHRM3):c.-313+2514G>A	CHRM3	Single nucleotide variant (intron variant)	Prune belly syndrome	GUncertain significance
Select item 1576872	NM_001375978.1(CHRM3):c.193G>A (p.Val65Ile)	CHRM3 (V65I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1527692	GRCh37/hg19 1q43(chr1:238823930-240973278)	CHRM3, FMN2 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527626	GRCh37/hg19 1q42.2-43(chr1:232226609-241010904)	ACTN2, ARID4B +32 more	Copy number loss	not specified	GPathogenic
Select item 1259008	NM_001375978.1(CHRM3):c.205_207dup	CHRM3	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1253741	NM_001375978.1(CHRM3):c.-19-130T>C	CHRM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239171	NM_001375978.1(CHRM3):c.206_207dup	CHRM3	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1178896	NM_001375978.1(CHRM3):c.*144T>C	CHRM3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 980421	GRCh37/hg19 1q43(chr1:239367007-239974659)x3	CHRM3	Copy number gain	not provided	GUncertain significance
Select item 974798	NM_001375978.1(CHRM3):c.352G>A (p.Gly118Arg)	CHRM3 (G118R)	Single nucleotide variant (missense variant)	Prune belly syndrome	GPathogenic
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814186	GRCh37/hg19 1q43(chr1:239922136-240308244)x3	CHRM3, FMN2	Copy number gain	not provided	GLikely benign
Select item 814185	GRCh37/hg19 1q43(chr1:239823151-239862101)x1	CHRM3	Copy number loss	not provided	GUncertain significance
Select item 814184	GRCh37/hg19 1q43(chr1:239692288-240383870)x1	FMN2, CHRM3	Copy number loss	not provided	GUncertain significance
Select item 814175	GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3	ERO1B, EXOC8 +59 more	Copy number gain	not provided	GPathogenic
Select item 797119	NM_001375978.1(CHRM3):c.1626G>A (p.Val542=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787764	NM_001375978.1(CHRM3):c.1292T>C (p.Leu431Pro)	CHRM3 (L431P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780094	NM_001375978.1(CHRM3):c.1206G>A (p.Glu402=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 775168	NM_001375978.1(CHRM3):c.681T>C (p.Ser227=)	CHRM3	Single nucleotide variant (synonymous variant)	Prune belly syndrome +1 more	GLikely benign
Select item 773822	NM_001375978.1(CHRM3):c.1152C>T (p.Pro384=)	CHRM3	Single nucleotide variant (synonymous variant)	Prune belly syndrome +1 more	GLikely benign
Select item 759162	NM_001375978.1(CHRM3):c.802C>T (p.Leu268=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 754513	NM_001375978.1(CHRM3):c.384C>T (p.Tyr128=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735773	NM_001375978.1(CHRM3):c.1560C>T (p.Cys520=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732008	NM_001375978.1(CHRM3):c.1758C>T (p.Pro586=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729010	NM_001375978.1(CHRM3):c.1353G>A (p.Thr451=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725518	NM_001375978.1(CHRM3):c.192C>T (p.Thr64=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 722174	NM_001375978.1(CHRM3):c.1449G>A (p.Leu483=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721096	NM_001375978.1(CHRM3):c.328C>T (p.Leu110=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 708305	NM_001375978.1(CHRM3):c.1059C>T (p.Asp353=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 689438	Single allele	CHML, CHRM3 +12 more	Deletion	Hereditary leiomyomatosis and renal cell cancer +1 more	GPathogenic
Select item 689213	GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3	VN1R5, WDR64 +81 more	Copy number gain	not provided	GPathogenic
Select item 687605	GRCh37/hg19 1q43(chr1:239910959-240298869)x3	CHRM3, FMN2	Copy number gain	not provided	GUncertain significance
Select item 686266	GRCh37/hg19 1q43(chr1:239601103-239965763)x3	CHRM3	Copy number gain	not provided	GUncertain significance
Select item 685476	GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3	ACTN2, ADSS2 +96 more	Copy number gain	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 2