"Genome-Nilou Lab"[submitter] AND "SETD2"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 707279	NM_014159.7(SETD2):c.7500C>T (p.Thr2500=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 956457	NM_014159.7(SETD2):c.7355C>T (p.Ser2452Leu)	SETD2 (S2408L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1252756	NM_014159.7(SETD2):c.7350+44C>T	SETD2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 475538	NM_014159.7(SETD2):c.7164C>T (p.Thr2388=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome +1 more	GBenign/Likely benign
Select item 515776	NM_014159.7(SETD2):c.6293+4dup	SETD2	Duplication (intron variant)	not specified +1 more	GLikely benign
Select item 475531	NM_014159.7(SETD2):c.6241C>T (p.Leu2081Phe)	SETD2 (L2081F +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GUncertain significance
Select item 475530	NM_014159.7(SETD2):c.6173A>G (p.Asn2058Ser)	SETD2 (N2058S +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +2 more	GBenign/Likely benign
Select item 436678	NM_014159.7(SETD2):c.6110-27_6110-26del	SETD2	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
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 1311301	NM_014159.7(SETD2):c.5899G>A (p.Gly1967Ser)	SETD2 (G1923S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 542228	NM_014159.7(SETD2):c.5870A>G (p.Asp1957Gly)	SETD2 (D1957G +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 135205	NM_014159.7(SETD2):c.5633T>C (p.Phe1878Ser)	SETD2 (F1878S +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 655623	NM_014159.7(SETD2):c.5542A>G (p.Thr1848Ala)	SETD2 (T1848A +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GUncertain significance
Select item 475524	NM_014159.7(SETD2):c.5271C>T (p.Leu1757=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1214532	NM_014159.7(SETD2):c.5143-20A>G	SETD2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1179697	NM_014159.7(SETD2):c.5015+39_5015+40del	SETD2	Deletion (intron variant)	not provided +1 more	GBenign
Select item 931838	NM_014159.7(SETD2):c.4918-20G>C	SETD2	Single nucleotide variant (intron variant)	not provided +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 976291	NM_014159.7(SETD2):c.4856A>T (p.Gln1619Leu)	SETD2 (Q1575L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 373451	NM_014159.7(SETD2):c.4376G>A (p.Arg1459Gln)	SETD2 (R1459Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
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 1138298	NM_014159.7(SETD2):c.4060G>A (p.Asp1354Asn)	SETD2 (D1310N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 450584	NM_014159.7(SETD2):c.4027C>A (p.Gln1343Lys)	SETD2 (Q1343K +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GUncertain significance
Select item 542235	NM_014159.7(SETD2):c.4011A>G (p.Glu1337=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 521605	NM_014159.7(SETD2):c.3860A>C (p.Gln1287Pro)	SETD2 (Q1287P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 475514	NM_014159.7(SETD2):c.3567C>T (p.Thr1189=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 521459	NM_014159.7(SETD2):c.3506A>G (p.Asp1169Gly)	SETD2 (D1169G +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GUncertain significance
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 475512	NM_014159.7(SETD2):c.3422C>T (p.Pro1141Leu)	SETD2 (P1141L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
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 135235	NM_014159.7(SETD2):c.3240G>A (p.Met1080Ile)	SETD2 (M1080I +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GBenign
Select item 135217	NM_014159.7(SETD2):c.3229A>G (p.Thr1077Ala)	SETD2 (T1077A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 634604	NM_014159.7(SETD2):c.3176G>A (p.Ser1059Asn)	SETD2 (S1059N +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 135215	NM_014159.7(SETD2):c.3097A>G (p.Thr1033Ala)	SETD2 (T1033A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1115128	NM_014159.7(SETD2):c.2997A>G (p.Val999=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome +1 more	GLikely benign
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 135222	NM_014159.7(SETD2):c.2783C>G (p.Thr928Arg)	SETD2 (T928R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 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 582290	NM_014159.7(SETD2):c.1833G>T (p.Lys611Asn)	SETD2 (K611N +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 1043055	NM_014159.7(SETD2):c.1798T>G (p.Leu600Val)	SETD2 (L600V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 475496	NM_014159.7(SETD2):c.1734A>T (p.Leu578Phe)	SETD2 (L578F +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +2 more	GBenign/Likely benign
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 965125	NM_014159.7(SETD2):c.1523G>T (p.Gly508Val)	SETD2 (G508V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 707707	NM_014159.7(SETD2):c.1415G>A (p.Arg472His)	SETD2 (R428H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1024617	NM_014159.7(SETD2):c.1256A>G (p.Tyr419Cys)	SETD2 (Y375C +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome	GUncertain significance
Select item 767586	NM_014159.7(SETD2):c.1205G>A (p.Arg402Gln)	SETD2 (R402Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1057214	NM_014159.7(SETD2):c.1202G>A (p.Arg401Gln)	SETD2 (R357Q +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +2 more	GUncertain significance
Select item 1038216	NM_014159.7(SETD2):c.1180T>C (p.Cys394Arg)	SETD2 (C350R +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GConflicting classifications of pathogenicity
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 1337046	NM_014159.7(SETD2):c.916G>A (p.Gly306Ser)	SETD2 (G262S +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GUncertain significance
Select item 475528	NM_014159.7(SETD2):c.590C>T (p.Ala197Val)	SETD2 (A197V +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GBenign/Likely benign
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 475523	NM_014159.7(SETD2):c.500C>T (p.Pro167Leu)	SETD2 (P167L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1013709	NM_014159.7(SETD2):c.209G>A (p.Arg70Gln)	SETD2 (R26Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 859857	NM_014159.7(SETD2):c.68C>G (p.Pro23Arg)	LOC129936665, SETD2 (P23R)	Single nucleotide variant (5 prime UTR variant +2 more)	Luscan-Lumish syndrome	GUncertain significance

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Items: 58