CHRM5[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	ACTC1, APBA2 +346 more	Copy number loss	See cases	GPathogenic
Select item 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	SNORD115-20, SNORD115-21 +314 more	Copy number loss	See cases	GPathogenic
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 57451	GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3	ACTC1, AQR +93 more	Copy number gain	See cases	GPathogenic
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 3024374	GRCh38/hg38 15q13.3-14(chr15:32640661-34525062)	LOC130056751, LOC130056752 +62 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 152610	GRCh38/hg38 15q14(chr15:33813732-34135651)x3	AVEN, CHRM5 +15 more	Copy number gain	See cases	GUncertain significance
Select item 2251241	NM_020371.3(AVEN):c.361T>C (p.Tyr121His)	AVEN, CHRM5 (Y121H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360515	NM_020371.3(AVEN):c.354G>T (p.Trp118Cys)	AVEN, CHRM5 (W118C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324367	NM_020371.3(AVEN):c.347C>G (p.Ser116Cys)	AVEN, CHRM5 (S116C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614421	NM_020371.3(AVEN):c.220G>A (p.Gly74Ser)	AVEN, CHRM5 +1 more (G74S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495403	NM_020371.3(AVEN):c.196C>G (p.Arg66Gly)	AVEN, CHRM5 +1 more (R66G)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538018	NM_020371.3(AVEN):c.191G>A (p.Gly64Glu)	AVEN, CHRM5 +1 more (G64E)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233460	NM_020371.3(AVEN):c.166G>A (p.Gly56Ser)	AVEN, CHRM5 +1 more (G56S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539356	NM_020371.3(AVEN):c.143G>A (p.Gly48Asp)	LOC130056739, AVEN +1 more (G48D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592305	NM_020371.3(AVEN):c.140G>C (p.Gly47Ala)	AVEN, CHRM5 +1 more (G47A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272469	NM_020371.3(AVEN):c.136G>T (p.Asp46Tyr)	LOC130056739, AVEN +1 more (D46Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251618	NM_020371.3(AVEN):c.26G>A (p.Gly9Glu)	CHRM5, AVEN (G9E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306476	NM_020371.3(AVEN):c.23G>C (p.Arg8Pro)	CHRM5, AVEN (R8P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390773	NM_020371.3(AVEN):c.14G>T (p.Arg5Leu)	CHRM5, AVEN (R5L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410889	NM_012125.4(CHRM5):c.26C>G (p.Ala9Gly)	CHRM5, AVEN (A9G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276716	NM_012125.4(CHRM5):c.28A>G (p.Thr10Ala)	CHRM5, AVEN (T10A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621560	NM_012125.4(CHRM5):c.277A>G (p.Met93Val)	AVEN, CHRM5 (M93V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598814	NM_012125.4(CHRM5):c.425G>A (p.Arg142His)	AVEN, CHRM5 (R142H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312272	NM_012125.4(CHRM5):c.493G>A (p.Ala165Thr)	CHRM5, AVEN (A165T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710292	NM_012125.4(CHRM5):c.573C>T (p.Pro191=)	AVEN, CHRM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2227855	NM_012125.4(CHRM5):c.653G>A (p.Arg218Gln)	AVEN, CHRM5 (R218Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390446	NM_012125.4(CHRM5):c.874G>A (p.Ala292Thr)	AVEN, CHRM5 (A292T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2353675	NM_012125.4(CHRM5):c.878A>G (p.Asn293Ser)	CHRM5, AVEN (N293S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408064	NM_012125.4(CHRM5):c.1028A>T (p.Glu343Val)	AVEN, CHRM5 (E343V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350453	NM_012125.4(CHRM5):c.1058A>G (p.Lys353Arg)	CHRM5, AVEN (K353R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371981	NM_012125.4(CHRM5):c.1096G>A (p.Ala366Thr)	CHRM5, AVEN (A366T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385284	NM_012125.4(CHRM5):c.1153G>A (p.Val385Ile)	CHRM5, AVEN (V385I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768691	NM_012125.4(CHRM5):c.1234G>A (p.Glu412Lys)	AVEN, CHRM5 (E412K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2295722	NM_012125.4(CHRM5):c.1370C>T (p.Pro457Leu)	AVEN, CHRM5 (P457L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351884	NM_012125.4(CHRM5):c.1528C>T (p.Leu510Phe)	AVEN, CHRM5 (L510F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313154	NM_012125.4(CHRM5):c.1565A>G (p.Lys522Arg)	AVEN, CHRM5 (K522R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2685508	GRCh37/hg19 15q13.3-14(chr15:32914240-34671790)x1	AVEN, CHRM5 +13 more	Copy number loss	not provided	GUncertain significance
Select item 2685507	GRCh37/hg19 15q13.3-14(chr15:32914239-34780626)x1	ARHGAP11A, AVEN +13 more	Copy number loss	not provided	GUncertain significance
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 1808017	GRCh37/hg19 15q14(chr15:33785125-34488132)x3	AVEN, CHRM5 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1712253	GRCh37/hg19 15q13.3-14(chr15:32915722-34671601)x3	KATNBL1, NUTM1 +13 more	Copy number gain	See cases	GPathogenic
Select item 1341971	GRCh37/hg19 15q14(chr15:33809650-40027263)x1	ACTC1, AQR +26 more	Copy number loss	15q14 microdeletion syndrome	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980030	GRCh37/hg19 15q14(chr15:33780535-34469123)x3	RYR3, AVEN +4 more	Copy number gain	not provided	GUncertain significance
Select item 980027	GRCh37/hg19 15q13.3-14(chr15:32914238-34879217)x1	GOLGA8B, GOLGA8A +14 more	Copy number loss	not provided	GUncertain significance
Select item 979414	GRCh37/hg19 15q13.1-14(chr15:28709714-34506805)x3	MTMR10, APBA2 +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 815703	GRCh37/hg19 15q14(chr15:34348337-34404263)x1	EMC7, PGBD4 +1 more	Copy number loss	not provided	GUncertain significance
Select item 815702	GRCh37/hg19 15q14(chr15:34197488-38656254)x1	ACTC1, AQR +19 more	Copy number loss	not provided	GPathogenic
Select item 815698	GRCh37/hg19 15q13.3-14(chr15:31675452-35689958)x1	ACTC1, AQR +23 more	Copy number loss	not provided	GPathogenic
Select item 815687	GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1	ACTC1, APBA2 +65 more	Copy number loss	not provided	GPathogenic
Select item 686130	GRCh37/hg19 15q13.3-14(chr15:32915592-34671601)x3	ARHGAP11A, AVEN +13 more	Copy number gain	not provided	GUncertain significance
Select item 564192	GRCh37/hg19 15q13.3-14(chr15:32920693-34868996)x3	EMC4, EMC7 +14 more	Copy number gain	not provided	GUncertain significance
Select item 564191	GRCh37/hg19 15q13.3-14(chr15:32446829-34868996)x1	ARHGAP11A, AVEN +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 443007	GRCh37/hg19 15q13.1-14(chr15:28828167-34509383)x3	APBA2, ARHGAP11A +25 more	Copy number gain	See cases	GUncertain significance
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394689	GRCh37/hg19 15q13.3-14(chr15:32908373-34659183)x3	ARHGAP11A, AVEN +12 more	Copy number gain	See cases	GUncertain significance
Select item 394384	GRCh37/hg19 15q14(chr15:33809650-34455671)x3	AVEN, CHRM5 +4 more	Copy number gain	See cases	GUncertain significance

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Items: 64