p.S591N[varname] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1426533	NM_001256864.2(DNAJC6):c.1982G>A (p.Ser661Asn)	DNAJC6 (S604N +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A	GUncertain significance
Select item 3199896	NM_052966.4(NIBAN1):c.2378G>A (p.Ser793Asn)	NIBAN1 (S591N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 839248	NM_001330078.2(NRXN1):c.1811G>A (p.Ser604Asn)	NRXN1 (S644N +7 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 1806331	NM_001348768.2(HECW2):c.1772G>A (p.Ser591Asn)	HECW2 (S235N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2250363	NM_001348323.3(TRIP12):c.1916G>A (p.Ser639Asn)	TRIP12 (S591N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662393	NM_138615.3(DHX30):c.1772G>A (p.Ser591Asn)	DHX30 (S552N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018142	NM_004656.4(BAP1):c.1826G>A (p.Ser609Asn)	BAP1 (S609N +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2299647	NM_001377540.1(SLMAP):c.1958G>A (p.Ser653Asn)	SLMAP (S104N +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344079	NM_020817.2(CCDC191):c.1811G>A (p.Ser604Asn)	CCDC191 (S604N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 261207	NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn)	MCCC1 (S591N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2103735	NM_006206.6(PDGFRA):c.1697G>A (p.Ser566Asn)	PDGFRA (S579N +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3261708	NM_005104.4(BRD2):c.1772G>A (p.Ser591Asn)	BRD2 (S591N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 853691	NM_152743.4(BRAT1):c.1772G>A (p.Ser591Asn)	BRAT1 (S591N +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures	GUncertain significance
Select item 3259249	NM_003416.4(ZNF7):c.1772G>A (p.Ser591Asn)	COMMD5, ZNF7 (S590N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616836	NM_017746.4(TEX10):c.1772G>A (p.Ser591Asn)	TEX10 (S594N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134474	NM_020183.6(BMAL2):c.1739G>A (p.Ser580Asn)	BMAL2, BMAL2-AS1 (S546N +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 661354	NM_002206.3(ITGA7):c.1640G>A (p.Ser547Asn)	ITGA7 (S454N +12 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2620543	NM_000153.4(GALC):c.1772G>A (p.Ser591Asn)	GALC (S535N +5 more)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency +1 more	GUncertain significance
Select item 2417556	NM_177438.3(DICER1):c.2054G>A (p.Ser685Asn)	DICER1 (S124N +4 more)	Single nucleotide variant (missense variant +1 more)	DICER1-related tumor predisposition	GUncertain significance
Select item 2269246	NM_001284527.2(ZSCAN32):c.1772G>A (p.Ser591Asn)	ZSCAN32 (S302N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 55185	NM_007294.4(BRCA1):c.4379G>A (p.Ser1460Asn)	BRCA1 (S1460N +75 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 54385	NM_007294.4(BRCA1):c.1895G>A (p.Ser632Asn)	BRCA1 (S632N +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 186563	NM_007294.4(BRCA1):c.1775G>A (p.Ser592Asn)	BRCA1 (S592N +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2547683	NM_020719.3(PRR12):c.1772G>A (p.Ser591Asn)	PRR12 (S591N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2077177	NM_001356.5(DDX3X):c.1772G>A (p.Ser591Asn)	DDX3X (S575N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic

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Items: 25