ClinVar for MedGen (Select 816736) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068280	NM_001080517.3(SETD5):c.998_1010del (p.Gly333fs)	SETD5 (G235fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 3064046	NM_001080517.3(SETD5):c.651T>G (p.Tyr217Ter)	SETD5 (Y119* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	Gnot provided
Select item 3064040	NM_001080517.3(SETD5):c.1401dup (p.Glu468fs)	SETD5 (E370fs +1 more)	Duplication (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	Gnot provided
Select item 3024325	NM_001080517.3(SETD5):c.1921del (p.Ala641fs)	SETD5 (A543fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 3024173	NM_001080517.3(SETD5):c.3512C>G (p.Ser1171Ter)	SETD5 (S1073* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 2921215	NM_001080517.3(SETD5):c.3197T>G (p.Val1066Gly)	SETD5 (V968G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 2920676	NM_001080517.3(SETD5):c.387del (p.Gly130fs)	SETD5 (G130fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 2690484	NM_001080517.3(SETD5):c.1451A>G (p.Asn484Ser)	SETD5 (N386S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely benign
Select item 2689951	NM_001080517.3(SETD5):c.2395G>A (p.Val799Ile)	SETD5 (V701I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 2663821	NM_001080517.3(SETD5):c.868_872del (p.Arg290fs)	SETD5 (R192fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 2663779	NM_001080517.3(SETD5):c.3196-2A>G	SETD5	Single nucleotide variant (splice acceptor variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 2627781	NM_001080517.3(SETD5):c.2635G>A (p.Glu879Lys)	SETD5 (E781K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 2573085	NM_001080517.3(SETD5):c.3631+1G>C	SETD5	Single nucleotide variant (splice donor variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 2573049	NM_001080517.3(SETD5):c.3855del (p.Ser1286fs)	SETD5 (S1188fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 2521050	NM_001080517.3(SETD5):c.515G>A (p.Arg172Gln)	SETD5 (R61Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2506523	GRCh37/hg19 3p25.3(chr3:9482141-9490314)	SETD5	Copy number loss	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 2505106	NM_001080517.3(SETD5):c.2788dup (p.Cys930fs)	SETD5 (C832fs +1 more)	Duplication (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	Gnot provided
Select item 2505077	NM_001080517.3(SETD5):c.1474G>T (p.Glu492Ter)	SETD5 (E394* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	Gnot provided
Select item 2500265	NM_001080517.3(SETD5):c.2998dup (p.Tyr1000fs)	SETD5 (Y1000fs +1 more)	Duplication (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 2444594	NM_001080517.3(SETD5):c.2471A>G (p.Asn824Ser)	SETD5 (N726S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2444235	NM_001080517.3(SETD5):c.617G>A (p.Trp206Ter)	SETD5 (W108* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 2442372	NM_001080517.3(SETD5):c.1626del (p.Asp542fs)	SETD5 (D444fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 2441815	NM_001080517.3(SETD5):c.2168T>A (p.Leu723Ter)	SETD5 (L625* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic/Likely pathogenic
Select item 2435875	NM_001080517.3(SETD5):c.2228T>C (p.Ile743Thr)	SETD5 (I645T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 2435874	NM_001080517.3(SETD5):c.2641T>A (p.Cys881Ser)	SETD5 (C783S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 2435873	NM_001080517.3(SETD5):c.1976C>G (p.Pro659Arg)	SETD5 (P561R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 2435871	NM_001080517.3(SETD5):c.2321A>G (p.Asp774Gly)	SETD5 (D676G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 2435870	NM_001080517.3(SETD5):c.3326A>G (p.Asp1109Gly)	SETD5 (D1011G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 2431600	NM_001080517.3(SETD5):c.3476_3477del (p.Gln1159fs)	SETD5 (Q1061fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 2200969	NM_001080517.3(SETD5):c.2977A>G (p.Met993Val)	SETD5 (M895V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1992342	NM_001080517.3(SETD5):c.1416dup (p.Val473fs)	SETD5 (V375fs +1 more)	Duplication (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 1895398	NM_001080517.3(SETD5):c.2395dup (p.Val799fs)	SETD5 (V701fs +1 more)	Duplication (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 1878605	NM_001080517.3(SETD5):c.4306A>T (p.Lys1436Ter)	SETD5 (K1338* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 1805789	NM_001080517.3(SETD5):c.588_591del (p.Gln196fs)	SETD5 (Q196fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 1805777	NM_001080517.3(SETD5):c.25G>T (p.Val9Phe)	SETD5 (V9F)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 1805293	NM_001080517.3(SETD5):c.3742C>T (p.Arg1248Trp)	SETD5 (R1150W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1801347	NM_001080517.3(SETD5):c.3556C>T (p.Arg1186Ter)	SETD5 (R1088* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 1710028	NM_001080517.3(SETD5):c.2003C>G (p.Ser668Ter)	SETD5 (S570* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1709758	NM_001080517.3(SETD5):c.2383C>T (p.Gln795Ter)	SETD5 (Q697* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 1709720	NM_001080517.3(SETD5):c.1441_1442insCTTG (p.Glu481delinsAlaTer)	SETD5	Insertion (nonsense)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 1709545	NM_001080517.3(SETD5):c.667A>C (p.Asn223His)	SETD5 (N125H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 1709220	NM_001080517.3(SETD5):c.2327C>T (p.Thr776Ile)	SETD5 (T678I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 1708486	NM_001080517.3(SETD5):c.1060T>C (p.Cys354Arg)	SETD5 (C256R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 1708229	NM_001080517.3(SETD5):c.2438dup (p.Asn814fs)	SETD5 (N716fs +1 more)	Duplication (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 1702955	NM_001080517.3(SETD5):c.4014G>C (p.Arg1338Ser)	SETD5 (R1240S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 1701704	NM_001080517.3(SETD5):c.1213C>T (p.His405Tyr)	SETD5 (H307Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more	GConflicting classifications of pathogenicity
Select item 1701690	NM_001080517.3(SETD5):c.3011C>T (p.Pro1004Leu)	SETD5 (P1004L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 1696597	NM_001080517.3(SETD5):c.3362G>A (p.Arg1121Gln)	SETD5 (R1023Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 1686177	NM_001080517.3(SETD5):c.1082G>C (p.Arg361Pro)	SETD5 (R263P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 1679766	NM_001080517.3(SETD5):c.1592G>A (p.Arg531Gln)	SETD5 (R433Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 1679715	NM_001080517.3(SETD5):c.719G>A (p.Ser240Asn)	SETD5 (S142N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 1679259	NM_001080517.3(SETD5):c.2521G>T (p.Glu841Ter)	SETD5 (E743* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 1679238	NM_001080517.3(SETD5):c.1612C>T (p.Gln538Ter)	SETD5 (Q440* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 1679232	NM_001080517.3(SETD5):c.1967del (p.Ser655_Leu656insTer)	SETD5	Deletion (nonsense)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 1612118	NM_001080517.3(SETD5):c.3458C>T (p.Ser1153Leu)	SETD5 (S1055L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more	GConflicting classifications of pathogenicity
Select item 1527966	NM_001080517.3(SETD5):c.875T>C (p.Leu292Ser)	SETD5 (L194S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 1527877	NM_001080517.3(SETD5):c.489dup (p.Val164fs)	SETD5 (V164fs +1 more)	Duplication (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 1513005	NM_001080517.3(SETD5):c.3953C>G (p.Pro1318Arg)	SETD5 (P1318R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more	GUncertain significance
Select item 1489491	NM_001080517.3(SETD5):c.3253G>T (p.Gly1085Trp)	SETD5 (G1085W +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more	GUncertain significance
Select item 1478806	NM_001080517.3(SETD5):c.1591C>T (p.Arg531Trp)	SETD5 (R433W +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more	GUncertain significance
Select item 1476892	NM_001080517.3(SETD5):c.1340A>G (p.Lys447Arg)	SETD5 (K349R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1413355	NM_001080517.3(SETD5):c.1711G>T (p.Val571Phe)	SETD5 (V473F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more	GUncertain significance
Select item 1385729	NM_001080517.3(SETD5):c.4243_4244del (p.Pro1415fs)	SETD5 (P1415fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +2 more	GConflicting classifications of pathogenicity
Select item 1353131	NM_001080517.3(SETD5):c.2878A>G (p.Ser960Gly)	SETD5 (S960G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more	GUncertain significance
Select item 1343278	NM_001080517.3(SETD5):c.1028dup (p.Gly344fs)	SETD5 (G246fs +1 more)	Duplication (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 1343149	NM_001080517.3(SETD5):c.890_897delinsC (p.Leu297fs)	SETD5 (L199fs +1 more)	Indel (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 1338294	NM_001080517.3(SETD5):c.3824G>A (p.Arg1275Gln)	SETD5 (R1177Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more	GUncertain significance
Select item 1325818	NM_001080517.3(SETD5):c.1689del (p.Glu564fs)	SETD5 (E466fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 1325572	NM_001080517.3(SETD5):c.4103C>T (p.Thr1368Ile)	SETD5 (T1270I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1325517	NM_001080517.3(SETD5):c.3319G>A (p.Val1107Ile)	SETD5 (V1009I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1325055	NM_001080517.3(SETD5):c.891delinsAAG (p.Ile298fs)	SETD5 (I200fs +1 more)	Indel (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 1325054	NM_001080517.3(SETD5):c.2104-1G>T	SETD5	Single nucleotide variant (splice acceptor variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 1323579	NM_001080517.3(SETD5):c.889_890del (p.Leu297fs)	SETD5 (L199fs +1 more)	Microsatellite (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 1301571	NM_001080517.3(SETD5):c.358C>T (p.Leu120Phe)	SETD5 (L120F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 1298335	NM_001080517.3(SETD5):c.3006A>T (p.Gly1002=)	SETD5	Single nucleotide variant (synonymous variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 1254037	NM_001080517.3(SETD5):c.1525-1G>C	SETD5	Single nucleotide variant (splice acceptor variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more	GPathogenic/Likely pathogenic
Select item 1235510	NM_001080517.3(SETD5):c.2347-38A>G	SETD5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1228371	NM_001080517.3(SETD5):c.242G>A (p.Ser81Asn)	SETD5 (S81N)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 1206033	NM_001080517.3(SETD5):c.1043G>A (p.Arg348Gln)	SETD5 (R250Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1205280	NM_001080517.3(SETD5):c.541G>A (p.Ala181Thr)	SETD5 (A181T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1182565	NM_001080517.3(SETD5):c.2614G>C (p.Gly872Arg)	SETD5 (G774R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1176144	NM_001080517.3(SETD5):c.4159C>T (p.Arg1387Trp)	SETD5 (R1289W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1064598	NM_001080517.3(SETD5):c.960-5C>G	SETD5	Single nucleotide variant (intron variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic/Likely pathogenic
Select item 1032607	NM_001080517.3(SETD5):c.3521G>A (p.Arg1174Gln)	SETD5 (R1076Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1032606	NM_001080517.3(SETD5):c.3409A>C (p.Met1137Leu)	SETD5 (M1039L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 1032605	NM_001080517.3(SETD5):c.3368C>T (p.Pro1123Leu)	SETD5 (P1123L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more	GUncertain significance
Select item 1032604	NM_001080517.3(SETD5):c.2346+15T>G	SETD5	Single nucleotide variant (intron variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 1032603	NM_001080517.3(SETD5):c.1495del (p.Asp499fs)	SETD5 (D401fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 1032602	NM_001080517.3(SETD5):c.1390C>T (p.Gln464Ter)	SETD5 (Q366* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more	GPathogenic
Select item 1032601	NM_001080517.3(SETD5):c.1225C>G (p.Arg409Gly)	SETD5 (R409G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more	GUncertain significance
Select item 1031047	NM_001080517.3(SETD5):c.2346+3A>G	SETD5	Single nucleotide variant (intron variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 1031046	NM_001080517.3(SETD5):c.1459G>T (p.Glu487Ter)	SETD5 (E389* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 1028537	NM_001080517.3(SETD5):c.847C>T (p.Arg283Trp)	SETD5 (R185W +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more	GUncertain significance
Select item 1028536	NM_001080517.3(SETD5):c.4159C>G (p.Arg1387Gly)	SETD5 (R1289G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 1028535	NM_001080517.3(SETD5):c.346A>C (p.Lys116Gln)	SETD5 (K116Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 1028534	NM_001080517.3(SETD5):c.2701T>A (p.Cys901Ser)	SETD5 (C803S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more	GUncertain significance
Select item 1028533	NM_001080517.3(SETD5):c.2519T>A (p.Met840Lys)	SETD5 (M840K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 998029	NM_001080517.3(SETD5):c.1702_1703insT (p.Ser568fs)	SETD5 (S470fs +1 more)	Insertion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 996998	NM_001080517.3(SETD5):c.3341G>T (p.Gly1114Val)	SETD5 (G1016V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more	GUncertain significance
Select item 996900	NM_001080517.3(SETD5):c.2855C>T (p.Pro952Leu)	SETD5 (P854L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more	GConflicting classifications of pathogenicity

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