"PreventionGenetics, part of Exact Sciences"[submitter] AND "SETD2"[ge - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 578649	NM_014159.7(SETD2):c.7350+6T>C	SETD2	Single nucleotide variant (intron variant)	Luscan-Lumish syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1131764	NM_014159.7(SETD2):c.7261A>G (p.Thr2421Ala)	SETD2 (T2377A +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition +1 more	GLikely benign
Select item 475537	NM_014159.7(SETD2):c.7060A>G (p.Thr2354Ala)	SETD2 (T2354A +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition +2 more	GBenign/Likely benign
Select item 3039969	NM_014159.7(SETD2):c.7028G>A (p.Gly2343Glu)	SETD2 (G2299E +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition	GUncertain significance
Select item 3030299	NM_014159.7(SETD2):c.6843T>C (p.Ser2281=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	SETD2-related condition	GLikely benign
Select item 754844	NM_014159.7(SETD2):c.6840C>T (p.Val2280=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	SETD2-related condition +1 more	GLikely benign
Select item 2632560	NM_014159.7(SETD2):c.6773C>T (p.Pro2258Leu)	SETD2 (P2214L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	SETD2-related condition	GUncertain significance
Select item 766919	NM_014159.7(SETD2):c.6768C>T (p.Val2256=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	SETD2-related condition +1 more	GLikely benign
Select item 3057563	NM_014159.7(SETD2):c.6746A>G (p.His2249Arg)	SETD2 (H2205R +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition	GLikely benign
Select item 3037063	NM_014159.7(SETD2):c.6720T>G (p.Tyr2240Ter)	SETD2 (Y2196* +1 more)	Single nucleotide variant (nonsense +1 more)	SETD2-related condition	GLikely pathogenic
Select item 1113629	NM_014159.7(SETD2):c.6642A>G (p.Thr2214=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	SETD2-related condition +1 more	GLikely benign
Select item 1107614	NM_014159.7(SETD2):c.6354A>G (p.Thr2118=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	SETD2-related condition +1 more	GLikely benign
Select item 475530	NM_014159.7(SETD2):c.6173A>G (p.Asn2058Ser)	SETD2 (N2058S +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition +3 more	GBenign/Likely benign
Select item 721750	NM_014159.7(SETD2):c.6066A>G (p.Val2022=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome +1 more	GLikely benign
Select item 542239	NM_014159.7(SETD2):c.6009G>A (p.Val2003=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	SETD2-related condition +1 more	GBenign/Likely benign
Select item 135204	NM_014159.7(SETD2):c.5900G>A (p.Gly1967Asp)	SETD2 (G1967D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 135203	NM_014159.7(SETD2):c.5812G>A (p.Val1938Ile)	SETD2 (V1938I +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition +1 more	GBenign/Likely benign
Select item 2634397	NM_014159.7(SETD2):c.5792A>G (p.Gln1931Arg)	SETD2 (Q1887R +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition	GUncertain significance
Select item 475526	NM_014159.7(SETD2):c.5666T>C (p.Met1889Thr)	SETD2 (M1889T +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition +3 more	GBenign/Likely benign
Select item 2635456	NM_014159.7(SETD2):c.5548C>A (p.Arg1850Ser)	SETD2 (R1806S +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition	GUncertain significance
Select item 2057730	NM_014159.7(SETD2):c.5547G>A (p.Ser1849=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	SETD2-related condition +1 more	GBenign/Likely benign
Select item 542242	NM_014159.7(SETD2):c.5364C>T (p.Asp1788=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	SETD2-related condition +1 more	GLikely benign
Select item 388568	NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)	SETD2 (R1740W +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 1006153	NM_014159.7(SETD2):c.4930G>A (p.Gly1644Arg)	SETD2 (G1600R +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +1 more	GConflicting classifications of pathogenicity
Select item 475521	NM_014159.7(SETD2):c.4872T>A (p.Ser1624=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	SETD2-related condition +2 more	GBenign/Likely benign
Select item 2852067	NM_014159.7(SETD2):c.4767T>C (p.Phe1589=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome +1 more	GBenign/Likely benign
Select item 1695072	NM_014159.7(SETD2):c.4680A>G (p.Lys1560=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2634882	NM_014159.7(SETD2):c.4289A>G (p.Glu1430Gly)	SETD2 (E1386G +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition	GUncertain significance
Select item 1138298	NM_014159.7(SETD2):c.4060G>A (p.Asp1354Asn)	SETD2 (D1310N +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition +2 more	GBenign/Likely benign
Select item 3039723	NM_014159.7(SETD2):c.4012GAG[1] (p.Glu1339del)	SETD2 (E1295del +1 more)	Microsatellite (inframe deletion +2 more)	SETD2-related condition	GUncertain significance
Select item 3049380	NM_014159.7(SETD2):c.3948T>G (p.Thr1316=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	SETD2-related condition	GLikely benign
Select item 542247	NM_014159.7(SETD2):c.3897C>T (p.Tyr1299=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	SETD2-related condition +1 more	GLikely benign
Select item 996996	NM_014159.7(SETD2):c.3659C>A (p.Thr1220Asn)	SETD2 (T1176N +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 3031825	NM_014159.7(SETD2):c.3648T>C (p.Ser1216=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	SETD2-related condition	GLikely benign
Select item 475512	NM_014159.7(SETD2):c.3422C>T (p.Pro1141Leu)	SETD2 (P1141L +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition +3 more	GBenign/Likely benign
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 +3 more	GBenign/Likely benign
Select item 1337950	NM_014159.7(SETD2):c.3168G>A (p.Ser1056=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2636998	NM_014159.7(SETD2):c.3167C>T (p.Ser1056Leu)	SETD2 (S1012L +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +2 more	GUncertain significance
Select item 135216	NM_014159.7(SETD2):c.3136A>G (p.Asn1046Asp)	SETD2 (N1046D +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition +2 more	GUncertain significance
Select item 2633218	NM_014159.7(SETD2):c.3074G>A (p.Gly1025Asp)	SETD2 (G1025D +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition	GUncertain significance
Select item 2636735	NM_014159.7(SETD2):c.2879A>G (p.Gln960Arg)	SETD2 (Q916R +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition	GUncertain significance
Select item 2653748	NM_014159.7(SETD2):c.2871A>G (p.Lys957=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	SETD2-related condition +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)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 475503	NM_014159.7(SETD2):c.2730A>G (p.Ala910=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	SETD2-related condition +1 more	GLikely benign
Select item 135214	NM_014159.7(SETD2):c.2603A>G (p.Asp868Gly)	SETD2 (D868G +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition +2 more	GBenign
Select item 3061353	NM_014159.7(SETD2):c.2476A>G (p.Asn826Asp)	SETD2 (N782D +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition	GUncertain significance
Select item 135237	NM_014159.7(SETD2):c.2450T>C (p.Met817Thr)	SETD2 (M817T +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition +1 more	GBenign/Likely benign
Select item 3030668	NM_014159.7(SETD2):c.2449A>G (p.Met817Val)	SETD2 (M773V +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition	GUncertain significance
Select item 135228	NM_014159.7(SETD2):c.2302G>C (p.Val768Leu)	SETD2 (V768L +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition +2 more	GBenign/Likely benign
Select item 135211	NM_014159.7(SETD2):c.2155A>G (p.Asn719Asp)	SETD2 (N719D +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 475498	NM_014159.7(SETD2):c.2040A>G (p.Glu680=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	SETD2-related condition +1 more	GLikely benign
Select item 542227	NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu)	SETD2 (K629E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 758440	NM_014159.7(SETD2):c.1833G>A (p.Lys611=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	SETD2-related condition +1 more	GLikely benign
Select item 135219	NM_014159.7(SETD2):c.1775C>A (p.Thr592Lys)	SETD2 (T592K +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition +2 more	GBenign/Likely benign
Select item 135209	NM_014159.7(SETD2):c.1579A>G (p.Ile527Val)	SETD2 (I527V +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition +1 more	GLikely benign
Select item 3047163	NM_014159.7(SETD2):c.1549G>C (p.Glu517Gln)	SETD2 (E473Q +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition	GUncertain significance
Select item 1592377	NM_014159.7(SETD2):c.1407C>T (p.Tyr469=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome +1 more	GLikely benign
Select item 2852068	NM_014159.7(SETD2):c.1152A>G (p.Glu384=)	SETD2	Single nucleotide variant (synonymous variant +1 more)	Luscan-Lumish syndrome +1 more	GBenign/Likely benign
Select item 2631426	NM_014159.7(SETD2):c.913dup (p.Thr305fs)	SETD2 (T261fs +1 more)	Duplication (frameshift variant +1 more)	SETD2-related condition	GLikely pathogenic
Select item 3031955	NM_014159.7(SETD2):c.701C>T (p.Ala234Val)	SETD2 (A190V +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition	GUncertain significance
Select item 2630181	NM_014159.7(SETD2):c.695A>T (p.Asp232Val)	SETD2 (D188V +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition	GUncertain significance
Select item 475534	NM_014159.7(SETD2):c.664C>A (p.Leu222Ile)	SETD2 (L222I +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2635558	NM_014159.7(SETD2):c.650C>T (p.Thr217Ile)	SETD2 (T173I +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition	GUncertain significance
Select item 1601258	NM_014159.7(SETD2):c.650C>A (p.Thr217Lys)	SETD2 (T173K +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 475527	NM_014159.7(SETD2):c.578C>T (p.Pro193Leu)	SETD2 (P193L +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition +1 more	GBenign
Select item 135224	NM_014159.7(SETD2):c.557C>T (p.Pro186Leu)	SETD2 (P186L +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition +2 more	GBenign/Likely benign
Select item 542229	NM_014159.7(SETD2):c.538T>G (p.Ser180Ala)	SETD2 (S180A +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition +1 more	GUncertain significance
Select item 2636661	NM_014159.7(SETD2):c.536A>G (p.Glu179Gly)	SETD2 (E135G +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition	GUncertain significance
Select item 475523	NM_014159.7(SETD2):c.500C>T (p.Pro167Leu)	SETD2 (P167L +1 more)	Single nucleotide variant (missense variant +1 more)	Luscan-Lumish syndrome +2 more	GBenign/Likely benign
Select item 2628848	NM_014159.7(SETD2):c.388T>C (p.Ser130Pro)	SETD2 (S130P +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition	GUncertain significance
Select item 542232	NM_014159.7(SETD2):c.148G>A (p.Ala50Thr)	SETD2 (A50T +1 more)	Single nucleotide variant (missense variant +1 more)	SETD2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 521678	NM_014159.7(SETD2):c.19C>T (p.Gln7Ter)	LOC129936665, SETD2 (Q7*)	Single nucleotide variant (5 prime UTR variant +2 more)	Luscan-Lumish syndrome +4 more	GConflicting classifications of pathogenicity

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Items: 72