7102[HGNC] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 661198	NC_000010.11:g.(?_86755016)_(87965482_?)del	ADIRF, ADIRF-AS1 +61 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	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 660158	NC_000010.11:g.(?_86875868)_(87894129_?)del	ADIRF, ADIRF-AS1 +57 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3294914	NM_004897.5(MINPP1):c.16G>C (p.Gly6Arg)	LOC130004260, MINPP1 (G6R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2291295	NM_004897.5(MINPP1):c.35C>T (p.Ser12Phe)	LOC130004260, MINPP1 (S12F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718502	NM_004897.5(MINPP1):c.51G>A (p.Ala17=)	MINPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3064832	NM_004897.5(MINPP1):c.56T>C (p.Leu19Pro)	MINPP1 (L19P)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 16	GUncertain significance
Select item 1285621	NM_004897.5(MINPP1):c.75_94del (p.Leu27fs)	MINPP1 (L27fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia, type 16	GLikely pathogenic
Select item 724273	NM_004897.5(MINPP1):c.99A>G (p.Leu33=)	MINPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239064	NM_004897.5(MINPP1):c.114G>T (p.Pro38=)	MINPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 5021	NM_004897.5(MINPP1):c.122C>T (p.Ser41Leu)	MINPP1 (S41L)	Single nucleotide variant (missense variant)	Thyroid cancer, nonmedullary, 2	GPathogenic
Select item 1285619	NM_004897.5(MINPP1):c.157T>G (p.Tyr53Asp)	MINPP1 (Y53D)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 16	GLikely pathogenic
Select item 2640658	NM_004897.5(MINPP1):c.171C>T (p.Asn57=)	MINPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2485999	NM_004897.5(MINPP1):c.175G>T (p.Val59Leu)	MINPP1 (V59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401810	NM_004897.5(MINPP1):c.175G>A (p.Val59Met)	MINPP1 (V59M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294913	NM_004897.5(MINPP1):c.208G>A (p.Asp70Asn)	LOC130004261, MINPP1 (D70N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1285618	NM_004897.5(MINPP1):c.223_224insGGGGG (p.Glu75fs)	LOC130004261, MINPP1 (E75fs)	Insertion (frameshift variant)	Pontocerebellar hypoplasia, type 16	GPathogenic
Select item 722495	NM_004897.5(MINPP1):c.223G>C (p.Glu75Gln)	LOC130004261, MINPP1 (E75Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2548546	NM_004897.5(MINPP1):c.232T>C (p.Cys78Arg)	LOC130004261, MINPP1 (C78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746512	NM_004897.5(MINPP1):c.237C>A (p.Thr79=)	LOC130004261, MINPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1285620	NM_004897.5(MINPP1):c.300del (p.Lys101fs)	MINPP1 (K101fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia, type 16	GPathogenic
Select item 2405615	NM_004897.5(MINPP1):c.340T>C (p.Ser114Pro)	MINPP1 (S114P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258143	NM_004897.5(MINPP1):c.352G>A (p.Gly118Arg)	MINPP1 (G118R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2567449	NM_004897.5(MINPP1):c.391C>A (p.Leu131Met)	MINPP1 (L131M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126653	NM_004897.5(MINPP1):c.423G>C (p.Trp141Cys)	MINPP1 (W141C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347220	NM_004897.5(MINPP1):c.451C>T (p.Arg151Trp)	MINPP1 (R151W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590742	NM_004897.5(MINPP1):c.562A>T (p.Met188Leu)	MINPP1 (M188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126654	NM_004897.5(MINPP1):c.634G>C (p.Ala212Pro)	MINPP1 (A212P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060787	NM_004897.5(MINPP1):c.638-136C>T	MINPP1	Single nucleotide variant (5 prime UTR variant +1 more)	MINPP1-related disorder	GBenign
Select item 2472496	NM_004897.5(MINPP1):c.659C>A (p.Thr220Lys)	MINPP1 (T220K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221191	NM_004897.5(MINPP1):c.668A>G (p.Asp223Gly)	MINPP1 (D223G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2628617	NM_004897.5(MINPP1):c.687dup (p.Asp230Ter)	MINPP1 (D230* +1 more)	Duplication (nonsense)	MINPP1-related disorder	GLikely pathogenic
Select item 1526393	NM_004897.5(MINPP1):c.682T>C (p.Phe228Leu)	MINPP1 (F228L +1 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 16	GUncertain significance
Select item 3126655	NM_004897.5(MINPP1):c.745G>A (p.Val249Met)	MINPP1 (V48M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126656	NM_004897.5(MINPP1):c.752C>G (p.Ala251Gly)	MINPP1 (A50G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126657	NM_004897.5(MINPP1):c.769G>C (p.Glu257Gln)	MINPP1 (E257Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478133	NM_004897.5(MINPP1):c.785T>C (p.Leu262Ser)	MINPP1 (L262S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 5022	NM_004897.5(MINPP1):c.809A>G (p.Gln270Arg)	MINPP1 (Q270R +1 more)	Single nucleotide variant (missense variant)	Thyroid cancer, nonmedullary, 2	GPathogenic
Select item 3041396	NM_004897.5(MINPP1):c.836-9T>C	MINPP1	Single nucleotide variant (intron variant)	MINPP1-related disorder	GBenign
Select item 787367	NM_004897.5(MINPP1):c.836-3dup	MINPP1	Duplication (intron variant)	not provided	GBenign
Select item 1325784	NM_004897.5(MINPP1):c.851C>A (p.Ala284Asp)	MINPP1 (A284D +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia, type 16	GLikely pathogenic
Select item 2309846	NM_004897.5(MINPP1):c.881T>C (p.Ile294Thr)	MINPP1 (I294T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1272034	NM_004897.5(MINPP1):c.933+34T>A	MINPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3064384	NM_004897.5(MINPP1):c.940G>T (p.Glu314Ter)	MINPP1 (E113* +1 more)	Single nucleotide variant (nonsense +1 more)	Pontocerebellar hypoplasia, type 16	GLikely pathogenic
Select item 1285624	NM_004897.5(MINPP1):c.992T>G (p.Ile331Ser)	MINPP1 (I331S +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia, type 16	GConflicting classifications of pathogenicity
Select item 1342137	NM_004897.5(MINPP1):c.1008C>G (p.Ser336Arg)	MINPP1 (S135R +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia, type 16	GUncertain significance
Select item 1300179	NM_004897.5(MINPP1):c.1027_1028del (p.Ile343fs)	MINPP1 (I142fs +1 more)	Microsatellite (frameshift variant +1 more)	Pontoneocerebellar hypoplasia	GPathogenic
Select item 3294915	NM_004897.5(MINPP1):c.1030T>G (p.Phe344Val)	MINPP1 (F344V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126651	NM_004897.5(MINPP1):c.1087C>A (p.Pro363Thr)	LOC126860990, MINPP1 (P363T +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 739764	NM_004897.5(MINPP1):c.1170A>G (p.Leu390=)	LOC126860990, MINPP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2214332	NM_004897.5(MINPP1):c.1195A>G (p.Met399Val)	LOC126860990, MINPP1 (M198V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1526394	NM_004897.5(MINPP1):c.1202G>A (p.Arg401Gln)	LOC126860990, MINPP1 (R200Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia, type 16	GUncertain significance
Select item 2640659	NM_004897.5(MINPP1):c.1203G>A (p.Arg401=)	LOC126860990, MINPP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1285623	NM_004897.5(MINPP1):c.1210C>T (p.Arg404Ter)	LOC126860990, MINPP1 (R404* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia, type 16	GLikely pathogenic
Select item 2401789	NM_004897.5(MINPP1):c.1219C>T (p.Leu407Phe)	LOC126860990, MINPP1 (L206F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 773535	NM_004897.5(MINPP1):c.1275T>C (p.Ala425=)	MINPP1, LOC126860990	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2521712	NM_004897.5(MINPP1):c.1291C>G (p.Gln431Glu)	LOC126860990, MINPP1 (Q230E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2309914	NM_004897.5(MINPP1):c.1334T>G (p.Leu445Trp)	LOC126860990, MINPP1 (L244W +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3126652	NM_004897.5(MINPP1):c.1393A>T (p.Ile465Phe)	LOC126860990, MINPP1 (I264F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1801152	NM_004897.5(MINPP1):c.1401del (p.Ser468fs)	LOC126860990, MINPP1 (S267fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2542790	NM_004897.5(MINPP1):c.1406G>A (p.Cys469Tyr)	LOC126860990, MINPP1 (C268Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2551423	NM_004897.5(MINPP1):c.1431A>T (p.Leu477Phe)	LOC126860990, MINPP1 (L477F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1285622	NM_004897.5(MINPP1):c.1456G>A (p.Glu486Lys)	LOC126860990, MINPP1 (E486K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia, type 16	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 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 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 2422865	NC_000010.10:g.(?_88428449)_(89725229_?)del	ADIRF, ADIRF-AS1 +14 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
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 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 979281	GRCh37/hg19 10q23.2-23.31(chr10:88685387-92144296)x1	ACTA2, ADIRF +34 more	Copy number loss	not provided	GPathogenic
Select item 832889	NC_000010.11:g.(?_87552082)_(88768928_?)del	ATAD1, KLLN +8 more	Deletion	PTEN hamartoma tumor syndrome	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 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 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 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 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

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Items: 85