C-35 rutaceae - ClinVar

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Items: 47

The following term was not found in ClinVar: rutaceae.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 874649	NM_013296.5(GPSM2):c.*208A>G	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 291711	NM_013296.5(GPSM2):c.*211G>A	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome +1 more	GBenign
Select item 291712	NM_013296.5(GPSM2):c.*251T>C	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 291713	NM_013296.5(GPSM2):c.*322T>C	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 874650	NM_013296.5(GPSM2):c.*351C>T	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 875592	NM_013296.5(GPSM2):c.*359T>G	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 291714	NM_013296.5(GPSM2):c.*455C>T	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome +1 more	GBenign
Select item 291716	NM_013296.5(GPSM2):c.*467G>T	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 291715	NM_013296.5(GPSM2):c.*476dup	CLCC1, GPSM2	Duplication (3 prime UTR variant +2 more)	Hearing loss, autosomal recessive	GUncertain significance
Select item 291717	NM_013296.5(GPSM2):c.*468T>G	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 875593	NM_013296.5(GPSM2):c.*474T>C	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 1281250	NM_002293.4(LAMC1):c.35_36del	LAMC1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 2715875	NM_014946.4(SPAST):c.1762_1785del (p.Ser588_Ser595del)	SPAST	Deletion (inframe_deletion +1 more)	Hereditary spastic paraplegia 4	GPathogenic
Select item 2624905	NM_000179.3(MSH6):c.4054_4055insTTGCTGTCCA (p.Lys1352fs)	MSH6 (K1177fs +14 more)	Insertion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 36549	NM_000249.4(MLH1):c.*32CTT[1]	MLH1	Microsatellite (3 prime UTR variant)	Lynch syndrome	GBenign
Select item 928737	NM_002495.4(NDUFS4):c.472_476dup (p.Tyr160fs)	NDUFS4 (Y160fs)	Duplication (3 prime UTR variant +2 more)	Leigh syndrome +1 more	GLikely pathogenic
Select item 976041	NM_001288705.3(CSF1R):c.35_36delinsTC	CSF1R	Indel (3 prime UTR variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GUncertain significance
Select item 2443947	NC_000005.9:g.70247853_70247854ins[N[1090];70247841_70247853]	SMN1	Insertion	Kugelberg-Welander disease	GPathogenic
Select item 2656490	NM_006772.3(SYNGAP1):c.3963_3964del (p.Ala1322fs)	SYNGAP1, SYNGAP1-AS1 (A1322fs)	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1277545	NM_001455.4(FOXO3):c.*35-288A>G	FOXO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223975	NM_001146227.3(RPS20):c.*35+247T>C	RPS20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272383	NM_001146227.3(RPS20):c.*35+220C>T	RPS20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246771	NM_001146227.3(RPS20):c.*35+178G>C	RPS20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2692138	NM_001146227.3(RPS20):c.*35+8T>A	RPS20	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2840315	NM_001128205.2(SULF1):c.2551+9A>G	SULF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881156	NM_001128205.2(SULF1):c.2551+15A>C	SULF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971643	NM_001128205.2(SULF1):c.2562T>C (p.Asp854=)	SULF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2810398	NM_001128205.2(SULF1):c.2566G>A (p.Gly856Arg)	SULF1 (G813R +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2394946	NM_174923.3(CCDC107):c.533C>T (p.Ser178Leu)	ARHGEF39, CCDC107 (S178L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1289137	NM_001198800.3(ASCC1):c.958-4824G>A	ASCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 6912	NM_003002.4(SDHD):c.337_340del (p.Asp113fs)	SDHD (D113fs +2 more)	Deletion (frameshift variant +2 more)	Paragangliomas 1 +7 more	GPathogenic
Select item 6899	NM_003002.4(SDHD):c.337_338insT (p.Asp113fs)	SDHD (D113fs +2 more)	Insertion (frameshift variant +2 more)	Paragangliomas 1	GPathogenic
Select item 3339785	NC_000012.11:g.(133319863_133324417)_(133338419_?)del	ANKLE2	Deletion	Microcephaly 16, primary, autosomal recessive	GPathogenic
Select item 3049830	NM_033238.3(PML):c.1710+685C>T	PML (A537V +1 more)	Single nucleotide variant (missense variant +2 more)	PML-related disorder	GLikely benign
Select item 783716	NM_033238.3(PML):c.1710+813G>A	PML (A628T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3049463	NM_033238.3(PML):c.1710+833C>T	PML	Single nucleotide variant (synonymous variant +2 more)	PML-related disorder	GLikely benign
Select item 776929	NM_033238.3(PML):c.1710+948C>T	PML (R625C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3039227	NM_033238.3(PML):c.1710+1029G>A	PML (G652R +2 more)	Single nucleotide variant (missense variant +2 more)	PML-related disorder	GLikely benign
Select item 713918	NM_033238.3(PML):c.1710+1227G>A	PML (V718M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 403329	NM_033238.3(PML):c.1710+1245A>G	PML (S724G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign
Select item 403330	NM_033238.3(PML):c.1710+1270G>T	PML (G732V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign
Select item 3059931	NM_033238.3(PML):c.1710+1335G>C	PML (A754P +2 more)	Single nucleotide variant (missense variant +2 more)	PML-related disorder	GLikely benign
Select item 3047942	NM_033238.3(PML):c.1710+1467G>A	PML	Single nucleotide variant (3 prime UTR variant +1 more)	PML-related disorder	GLikely benign
Select item 1288742	NM_033238.3(PML):c.1710+1705A>G	PML	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1283814	NM_001304438.2(TMEM132E):c.35_36dup	TMEM132E	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 691045	NM_006361.6(HOXB13):c.35_36insAAGG	HOXB13	Insertion (3 prime UTR variant)	Prostate cancer, hereditary, 1	GUncertain significance
Select item 1279905	NM_001385648.2(B3GNT8):c.35_36insCCGGCCCTGGCC	B3GNT8	Insertion (3 prime UTR variant)	not provided	GBenign

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Items: 47