"Revvity Omics, Revvity"[submitter] AND "SETD2"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435856	NM_014159.7(SETD2):c.7432-4G>C	SETD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 717583	NM_014159.7(SETD2):c.6970G>T (p.Ala2324Ser)	SETD2 (A2280S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2435864	NM_014159.7(SETD2):c.6931C>T (p.Pro2311Ser)	SETD2 (P2267S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2435865	NM_014159.7(SETD2):c.6090A>T (p.Gln2030His)	SETD2 (Q1986H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 567889	NM_014159.7(SETD2):c.6044G>A (p.Ser2015Asn)	SETD2 (S2015N +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GUncertain significance
Select item 1803818	NM_014159.7(SETD2):c.5713G>A (p.Gly1905Ser)	SETD2 (G1861S +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GUncertain significance
Select item 1024306	NM_014159.7(SETD2):c.5057G>A (p.Arg1686Gln)	SETD2 (R1642Q +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2433315	NM_014159.7(SETD2):c.4510_4511del (p.Leu1504fs)	SETD2 (L1460fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2433318	NM_014159.7(SETD2):c.4454+1G>A	SETD2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2435860	NM_014159.7(SETD2):c.4048T>A (p.Ser1350Thr)	SETD2 (S1306T +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GUncertain significance
Select item 2435861	NM_014159.7(SETD2):c.3331C>T (p.His1111Tyr)	SETD2 (H1067Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 846031	NM_014159.7(SETD2):c.3239T>C (p.Met1080Thr)	SETD2 (M1036T +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GUncertain significance
Select item 2435866	NM_014159.7(SETD2):c.2884G>C (p.Ala962Pro)	SETD2 (A918P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1041536	NM_014159.7(SETD2):c.2849G>A (p.Arg950His)	SETD2 (R950H +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2435868	NM_014159.7(SETD2):c.2384G>C (p.Cys795Ser)	SETD2 (C751S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1129449	NM_014159.7(SETD2):c.2096A>G (p.Asp699Gly)	SETD2 (D655G +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GConflicting classifications of pathogenicity
Select item 653452	NM_014159.7(SETD2):c.2032G>A (p.Gly678Arg)	SETD2 (G678R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2435859	NM_014159.7(SETD2):c.1957G>C (p.Asp653His)	SETD2 (D609H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 475497	NM_014159.7(SETD2):c.1928A>G (p.His643Arg)	SETD2 (H643R +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GUncertain significance
Select item 2435863	NM_014159.7(SETD2):c.1912T>G (p.Ser638Ala)	SETD2 (S594A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2435867	NM_014159.7(SETD2):c.1846G>C (p.Ala616Pro)	SETD2 (A572P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2435862	NM_014159.7(SETD2):c.1498T>C (p.Ser500Pro)	SETD2 (S456P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2435869	NM_014159.7(SETD2):c.1116_1119del (p.Asp372fs)	SETD2 (D328fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GUncertain significance OLikely oncogenic
Select item 2435858	NM_014159.7(SETD2):c.911A>C (p.Lys304Thr)	SETD2 (K260T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2435857	NM_014159.7(SETD2):c.554C>T (p.Ser185Leu)	SETD2 (S141L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 521678	NM_014159.7(SETD2):c.19C>T (p.Gln7Ter)	LOC129936665, SETD2 (Q7*)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity

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Items: 26