1952[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	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	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +302 more	Copy number loss	See cases	GPathogenic
Select item 148436	GRCh38/hg38 1q43(chr1:237322513-240310271)x1	CHRM3, CHRM3-AS1 +11 more	Copy number loss	See cases	GUncertain significance
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 more	Copy number loss	See cases	GPathogenic
Select item 60117	GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1	AKT3, AKT3-IT1 +55 more	Copy number loss	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 60119	GRCh38/hg38 1q43(chr1:238412092-241098768)x1	CHRM3, CHRM3-AS1 +13 more	Copy number loss	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 153226	GRCh38/hg38 1q43(chr1:239288025-242458053)x1	BECN2, CHML +35 more	Copy number loss	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 156772	NG_032046.2:g.169545_239936dup	CHRM3	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	LOC132088686, LOC440742 +277 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 57847	GRCh38/hg38 1q43(chr1:239631841-242609012)x3	BECN2, CHML +35 more	Copy number gain	See cases	GUncertain significance
Select item 148031	GRCh38/hg38 1q43(chr1:239777071-240028234)x1	CHRM3, CHRM3-AS1	Copy number loss	See cases	GUncertain significance
Select item 1253741	NM_001375978.1(CHRM3):c.-19-130T>C	CHRM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	ADSS2, AHCTF1 +275 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2081025	NM_001375978.1(CHRM3):c.9G>A (p.Leu3=)	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 2490326	NM_001375978.1(CHRM3):c.29C>T (p.Ser10Leu)	CHRM3 (S10L)	Single nucleotide variant (missense variant)	not specified	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 1943321	NM_001375978.1(CHRM3):c.93G>A (p.Pro31=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2305790	NM_001375978.1(CHRM3):c.121A>G (p.Asn41Asp)	CHRM3 (N41D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2056291	NM_001375978.1(CHRM3):c.159C>T (p.Asp53=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 725518	NM_001375978.1(CHRM3):c.192C>T (p.Thr64=)	CHRM3	Single nucleotide variant (synonymous variant)	CHRM3-related disorder +1 more	GLikely benign
Select item 1576872	NM_001375978.1(CHRM3):c.193G>A (p.Val65Ile)	CHRM3 (V65I)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2512611	NM_001375978.1(CHRM3):c.283G>A (p.Val95Ile)	CHRM3 (V95I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 974798	NM_001375978.1(CHRM3):c.352G>A (p.Gly118Arg)	CHRM3 (G118R)	Single nucleotide variant (missense variant)	Prune belly syndrome	GPathogenic
Select item 2713722	NM_001375978.1(CHRM3):c.369T>C (p.Asn123=)	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 1900450	NM_001375978.1(CHRM3):c.415T>C (p.Leu139=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2156740	NM_001375978.1(CHRM3):c.450A>T (p.Val150=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085930	NM_001375978.1(CHRM3):c.513G>C (p.Thr171=)	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 2913722	NM_001375978.1(CHRM3):c.591T>G (p.Phe197Leu)	CHRM3 (F197L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 759162	NM_001375978.1(CHRM3):c.802C>T (p.Leu268=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721989	NM_001375978.1(CHRM3):c.852G>A (p.Thr284=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715031	NM_001375978.1(CHRM3):c.897C>T (p.Ser299=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2373449	NM_001375978.1(CHRM3):c.973G>A (p.Glu325Lys)	CHRM3 (E325K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2174887	NM_001375978.1(CHRM3):c.1017C>A (p.Asn339Lys)	CHRM3 (N339K)	Single nucleotide variant (missense variant)	not provided +1 more	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 1929873	NM_001375978.1(CHRM3):c.1057G>A (p.Asp353Asn)	CHRM3 (D353N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 708305	NM_001375978.1(CHRM3):c.1059C>T (p.Asp353=)	CHRM3	Single nucleotide variant (synonymous 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 2083567	NM_001375978.1(CHRM3):c.1083G>A (p.Thr361=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1925404	NM_001375978.1(CHRM3):c.1116G>A (p.Pro372=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3144586	NM_001375978.1(CHRM3):c.1136A>C (p.Asn379Thr)	CHRM3 (N379T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2081818	NM_001375978.1(CHRM3):c.1137C>T (p.Asn379=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	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 2270200	NM_001375978.1(CHRM3):c.1157C>T (p.Ser386Leu)	CHRM3 (S386L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3014642	NM_001375978.1(CHRM3):c.1158G>C (p.Ser386=)	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 29626	NM_001375978.1(CHRM3):c.1173_1184delinsT (p.Pro392fs)	CHRM3 (P392fs)	Indel (frameshift variant)	Prune belly syndrome	GPathogenic
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 2171324	NM_001375978.1(CHRM3):c.1201T>A (p.Leu401Met)	CHRM3 (L401M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 780094	NM_001375978.1(CHRM3):c.1206G>A (p.Glu402=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2405584	NM_001375978.1(CHRM3):c.1216G>A (p.Asp406Asn)	CHRM3 (D406N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2077549	NM_001375978.1(CHRM3):c.1240G>A (p.Val414Met)	CHRM3 (V414M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2954668	NM_001375978.1(CHRM3):c.1245C>T (p.Asp415=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810632	NM_001375978.1(CHRM3):c.1280_1282del (p.Leu427del)	CHRM3 (L427del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3144587	NM_001375978.1(CHRM3):c.1289A>G (p.Gln430Arg)	CHRM3 (Q430R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787764	NM_001375978.1(CHRM3):c.1292T>C (p.Leu431Pro)	CHRM3 (L431P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2183253	NM_001375978.1(CHRM3):c.1303G>A (p.Val435Met)	CHRM3 (V435M)	Single nucleotide variant (missense variant)	not provided +1 more	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 2048874	NM_001375978.1(CHRM3):c.1331A>C (p.Asn444Thr)	CHRM3 (N444T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 729010	NM_001375978.1(CHRM3):c.1353G>A (p.Thr451=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3267139	NM_001375978.1(CHRM3):c.1376A>G (p.Lys459Arg)	CHRM3 (K459R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605524	NM_001375978.1(CHRM3):c.1432C>T (p.Arg478Trp)	CHRM3 (R478W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722174	NM_001375978.1(CHRM3):c.1449G>A (p.Leu483=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972599	NM_001375978.1(CHRM3):c.1548T>C (p.Phe516=)	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 2362407	NM_001375978.1(CHRM3):c.1571C>T (p.Thr524Ile)	CHRM3 (T524I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 797119	NM_001375978.1(CHRM3):c.1626G>A (p.Val542=)	CHRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2062223	NM_001375978.1(CHRM3):c.1753G>A (p.Ala585Thr)	CHRM3 (A585T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 732008	NM_001375978.1(CHRM3):c.1758C>T (p.Pro586=)	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)	not specified +1 more	GUncertain significance
Select item 1178896	NM_001375978.1(CHRM3):c.*144T>C	CHRM3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1259008	NM_001375978.1(CHRM3):c.205_207dup	CHRM3	Duplication (3 prime UTR variant)	not provided	GBenign

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