"Athena Diagnostics"[submitter] AND "SETD2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 805407	NM_014159.7(SETD2):c.7444A>G (p.Ile2482Val)	SETD2 (I2482V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 135202	NM_014159.7(SETD2):c.5885C>T (p.Pro1962Leu)	SETD2 (P1962L +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GBenign
Select item 475521	NM_014159.7(SETD2):c.4872T>A (p.Ser1624=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome +1 more	GBenign/Likely benign
Select item 475517	NM_014159.7(SETD2):c.4320A>T (p.Pro1440=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome +2 more	GBenign/Likely benign
Select item 586533	NM_014159.7(SETD2):c.3465T>C (p.Asn1155=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome +1 more	GBenign
Select item 475506	NM_014159.7(SETD2):c.3249A>C (p.Thr1083=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome +2 more	GBenign/Likely benign
Select item 135216	NM_014159.7(SETD2):c.3136A>G (p.Asn1046Asp)	SETD2 (N1046D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 586532	NM_014159.7(SETD2):c.2798G>T (p.Gly933Val)	SETD2 (G933V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 135230	NM_014159.7(SETD2):c.2704G>C (p.Glu902Gln)	SETD2 (E902Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 135221	NM_014159.7(SETD2):c.2543C>T (p.Ala848Val)	SETD2 (A848V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 135228	NM_014159.7(SETD2):c.2302G>C (p.Val768Leu)	SETD2 (V768L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 135220	NM_014159.7(SETD2):c.2251C>A (p.Pro751Thr)	SETD2 (P751T +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GConflicting classifications of pathogenicity
Select item 805406	NM_014159.7(SETD2):c.1688T>C (p.Ile563Thr)	SETD2 (I519T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 805405	NM_014159.7(SETD2):c.1603A>G (p.Asn535Asp)	SETD2 (N535D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 135225	NM_014159.7(SETD2):c.1343G>A (p.Arg448Gln)	SETD2 (R448Q +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GUncertain significance
Select item 805408	NM_014159.7(SETD2):c.986G>A (p.Arg329Gln)	SETD2 (R285Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 135224	NM_014159.7(SETD2):c.557C>T (p.Pro186Leu)	SETD2 (P186L +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GBenign/Likely benign
Select item 586534	NM_014159.7(SETD2):c.539C>T (p.Ser180Leu)	SETD2 (S180L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance