ClinVar for Gene (Select 6623) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321162	NM_003087.3(SNCG):c.341A>G (p.Glu114Gly)	SNCG (E114G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3321161	NM_003087.3(SNCG):c.154G>A (p.Val52Met)	SNCG (V52M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295367	NM_024756.3(MMRN2):c.122G>C (p.Trp41Ser)	MMRN2, SNCG (W41S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244887	NC_000010.10:g.(?_88514773)_(89725229_?)del	ADIRF, ADIRF-AS1 +13 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3166956	NM_003087.3(SNCG):c.373G>T (p.Gly125Trp)	SNCG (G125W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3166955	NM_003087.3(SNCG):c.196G>C (p.Val66Leu)	SNCG (R83P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2605333	NM_024756.3(MMRN2):c.163C>G (p.Arg55Gly)	MMRN2, SNCG (R55G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580310	GRCh37/hg19 10q22.3-23.2(chr10:81611360-89264122)x3	ADIRF, ADIRF-AS1 +33 more	Copy number gain	See cases	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2539712	NM_024756.3(MMRN2):c.163C>T (p.Arg55Cys)	MMRN2, SNCG (R55C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490820	NM_003087.3(SNCG):c.287G>A (p.Arg96His)	SNCG (R96H)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2483450	NM_024756.3(MMRN2):c.62G>C (p.Trp21Ser)	MMRN2, SNCG (W21S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2422865	NC_000010.10:g.(?_88428449)_(89725229_?)del	ADIRF, ADIRF-AS1 +14 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2392195	NM_003087.3(SNCG):c.266C>T (p.Ala89Val)	SNCG (A89V)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2362653	NM_003087.3(SNCG):c.220G>A (p.Val74Ile)	SNCG (R91H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243507	NM_024756.3(MMRN2):c.80C>G (p.Thr27Ser)	MMRN2, SNCG (T27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223278	NM_003087.3(SNCG):c.349G>C (p.Glu117Gln)	SNCG (E117Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2219315	NM_003087.3(SNCG):c.373G>A (p.Gly125Arg)	SNCG (G125R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1809269	GRCh37/hg19 10q23.2(chr10:88578693-88863385)x3	ADIRF, ADIRF-AS1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1807623	GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1	ACTA2, ADIRF +56 more	Copy number loss	not provided	GPathogenic
Select item 1708188	GRCh37/hg19 10q23.1-23.31(chr10:83533660-91913077)x1	ACTA2, ADIRF +50 more	Copy number loss	See cases	GPathogenic
Select item 1703626	GRCh37/hg19 10q22.3-23.2(chr10:81630468-88980961)	ADIRF, ADIRF-AS1 +32 more	Copy number loss	Chromosome 10q23 deletion syndrome	GPathogenic
Select item 1453421	NC_000010.10:g.(?_88441193)_(88722432_?)del	SNCG, BMPR1A +2 more	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 1341188	GRCh37/hg19 10q23.2(chr10:88639431-88973306)x3	ADIRF, ADIRF-AS1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1340291	GRCh37/hg19 10q23.1-23.31(chr10:87232436-89649679)x1	ADIRF, ADIRF-AS1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1068879	NC_000010.10:g.(?_88683123)_(89725321_?)del	PAPSS2, MMRN2 +13 more	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 981172	Single allele	BMPR1A, CCSER2 +33 more	Deletion	not provided	GPathogenic
Select item 979281	GRCh37/hg19 10q23.2-23.31(chr10:88685387-92144296)x1	ACTA2, ADIRF +34 more	Copy number loss	not provided	GPathogenic
Select item 979275	GRCh37/hg19 10q22.3-23.2(chr10:81457752-89253430)x1	DYDC1, DYDC2 +34 more	Copy number loss	not provided	GPathogenic
Select item 979274	GRCh37/hg19 10q22.3-23.2(chr10:81617260-89146780)x1	ADIRF, ADIRF-AS1 +33 more	Copy number loss	not provided	GPathogenic
Select item 831623	NC_000010.11:g.(?_86755016)_(87965564_?)del	ADIRF, ADIRF-AS1 +13 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli +1 more	GPathogenic
Select item 815362	GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	not provided	GPathogenic
Select item 788429	NM_003087.3(SNCG):c.279G>A (p.Gly93=)	SNCG (G111S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 776522	NM_003087.3(SNCG):c.30C>A (p.Ile10=)	SNCG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 661198	NC_000010.11:g.(?_86755016)_(87965482_?)del	ADIRF, ADIRF-AS1 +61 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 660158	NC_000010.11:g.(?_86875868)_(87894129_?)del	ADIRF, ADIRF-AS1 +57 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 646972	NC_000010.11:g.(?_86838866)_(87965482_?)del	ADIRF, ADIRF-AS1 +60 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 625557	GRCh37/hg19 10q22.3-23.2(chr10:81697811-88768847)	ADIRF, ADIRF-AS1 +29 more	Copy number loss	not provided	GPathogenic
Select item 583733	NC_000010.10:g.(?_88649809)_(89725239_?)del	ADIRF, ADIRF-AS1 +13 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli +1 more	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563795	GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1	ACTA2, ADIRF +55 more	Copy number loss	not provided	GPathogenic
Select item 563793	GRCh37/hg19 10q22.3-23.2(chr10:81644079-88973306)x3	LINC01520, LOC101929662 +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 563738	GRCh37/hg19 10q23.2(chr10:88615516-88980546)x1	ADIRF, ADIRF-AS1 +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442213	GRCh37/hg19 10q23.1-23.2(chr10:82013260-89166455)x1	ADIRF, ADIRF-AS1 +29 more	Copy number loss	See cases	GPathogenic
Select item 442036	GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441795	GRCh37/hg19 10q22.3-23.2(chr10:81597767-88951347)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	See cases	GPathogenic
Select item 395199	GRCh37/hg19 10q22.3-23.2(chr10:81892411-88722952)x1	ANXA11, BMPR1A +24 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 155111	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87180672)x1	FAM25A, GHITM +168 more	Copy number loss	See cases	GPathogenic
Select item 153276	GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1	ADIRF, ADIRF-AS1 +174 more	Copy number loss	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 147367	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1	ADIRF, ADIRF-AS1 +166 more	Copy number loss	See cases	GPathogenic
Select item 59703	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3	ATAD1, ACTA2 +151 more	Copy number gain	See cases	GPathogenic
Select item 59702	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3	SHLD2, SNCG +168 more	Copy number gain	See cases	GPathogenic
Select item 58757	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87109827)x1	LOC130004227, LOC130004228 +168 more	Copy number loss	See cases	GPathogenic
Select item 58755	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1	ADIRF, ADIRF-AS1 +175 more	Copy number loss	See cases	GPathogenic
Select item 58754	GRCh38/hg38 10q22.3-23.2(chr10:79898516-86964367)x1	ANXA11, BMPR1A +150 more	Copy number loss	See cases	GPathogenic
Select item 58751	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 58748	GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 33096	GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1	ADIRF, ADIRF-AS1 +163 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 67