"PreventionGenetics, part of Exact Sciences"[submitter] AND "SETD5"[ge - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2632388	NM_001080517.3(SETD5):c.19C>G (p.Leu7Val)	SETD5 (L7V)	Single nucleotide variant (missense variant +1 more)	SETD5-related disorder	GUncertain significance
Select item 3030652	NM_001080517.3(SETD5):c.189T>C (p.Pro63=)	SETD5	Single nucleotide variant (synonymous variant +1 more)	SETD5-related disorder	GLikely benign
Select item 1548816	NM_001080517.3(SETD5):c.213G>A (p.Pro71=)	SETD5	Single nucleotide variant (synonymous variant +1 more)	SETD5-related disorder +1 more	GBenign/Likely benign
Select item 2629858	NM_001080517.3(SETD5):c.235G>A (p.Gly79Arg)	SETD5 (G79R)	Single nucleotide variant (missense variant +1 more)	SETD5-related disorder	GUncertain significance
Select item 2636479	NM_001080517.3(SETD5):c.257G>A (p.Gly86Glu)	SETD5 (G86E)	Single nucleotide variant (missense variant +1 more)	SETD5-related disorder	GUncertain significance
Select item 3040849	NM_001080517.3(SETD5):c.567+934C>T	SETD5	Single nucleotide variant (intron variant)	SETD5-related disorder	GLikely benign
Select item 2632227	NM_001080517.3(SETD5):c.567+988G>A	SETD5	Single nucleotide variant (intron variant)	SETD5-related disorder	GUncertain significance
Select item 1270181	NM_001080517.3(SETD5):c.567+992A>G	SETD5	Single nucleotide variant (intron variant)	SETD5-related disorder +1 more	GBenign/Likely benign
Select item 1206651	NM_001080517.3(SETD5):c.687A>G (p.Val229=)	SETD5	Single nucleotide variant (synonymous variant)	SETD5-related disorder +1 more	GLikely benign
Select item 2630500	NM_001080517.3(SETD5):c.730G>T (p.Val244Leu)	SETD5 (V146L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2635025	NM_001080517.3(SETD5):c.775G>A (p.Ala259Thr)	SETD5 (A161T +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder	GUncertain significance
Select item 2635168	NM_001080517.3(SETD5):c.895_902del (p.Ile299fs)	SETD5 (I201fs +1 more)	Deletion (frameshift variant)	SETD5-related disorder	GLikely pathogenic
Select item 787252	NM_001080517.3(SETD5):c.959+9G>A	SETD5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 620539	NM_001080517.3(SETD5):c.1498C>T (p.Gln500Ter)	SETD5 (Q500* +1 more)	Single nucleotide variant (nonsense)	SETD5-related disorder +2 more	GPathogenic
Select item 3046250	NM_001080517.3(SETD5):c.1518C>G (p.Ser506Arg)	SETD5 (S408R +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder	GUncertain significance
Select item 1408643	NM_001080517.3(SETD5):c.1728C>A (p.Ile576=)	SETD5	Single nucleotide variant (synonymous variant)	SETD5-related disorder +1 more	GLikely benign
Select item 2635280	NM_001080517.3(SETD5):c.1782+1G>T	SETD5	Single nucleotide variant (splice donor variant)	SETD5-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 733991	NM_001080517.3(SETD5):c.1789G>A (p.Ala597Thr)	SETD5 (A499T +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder +2 more	GLikely benign
Select item 871922	NM_001080517.3(SETD5):c.1910A>G (p.Asn637Ser)	SETD5 (N539S +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder +1 more	GLikely benign
Select item 748771	NM_001080517.3(SETD5):c.1910A>C (p.Asn637Thr)	SETD5 (N539T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1197887	NM_001080517.3(SETD5):c.2006G>C (p.Gly669Ala)	SETD5 (G571A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2636338	NM_001080517.3(SETD5):c.2030C>G (p.Ser677Cys)	SETD5 (S579C +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder	GUncertain significance
Select item 982187	NM_001080517.3(SETD5):c.2299C>T (p.Arg767Cys)	SETD5 (R669C +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1201504	NM_001080517.3(SETD5):c.2307G>T (p.Arg769Ser)	SETD5 (R671S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1166529	NM_001080517.3(SETD5):c.2348G>A (p.Arg783His)	SETD5 (R685H +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder +1 more	GBenign/Likely benign
Select item 2975688	NM_001080517.3(SETD5):c.2391A>T (p.Ser797=)	SETD5	Single nucleotide variant (synonymous variant)	SETD5-related disorder +1 more	GLikely benign
Select item 2201004	NM_001080517.3(SETD5):c.2406G>T (p.Glu802Asp)	SETD5 (E802D +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 445680	NM_001080517.3(SETD5):c.2476+4C>T	SETD5	Single nucleotide variant (intron variant)	SETD5-related disorder +1 more	GBenign/Likely benign
Select item 2633185	NM_001080517.3(SETD5):c.2738A>G (p.Lys913Arg)	SETD5 (K815R +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder	GUncertain significance
Select item 809412	NM_001080517.3(SETD5):c.2908G>A (p.Val970Met)	SETD5 (V872M +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 446014	NM_001080517.3(SETD5):c.2927C>G (p.Ala976Gly)	SETD5 (A976G +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder +1 more	GBenign/Likely benign
Select item 735506	NM_001080517.3(SETD5):c.3116G>A (p.Arg1039His)	SETD5 (R1039H +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder +1 more	GLikely benign
Select item 2206154	NM_001080517.3(SETD5):c.3172C>A (p.Gln1058Lys)	SETD5 (Q960K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 728110	NM_001080517.3(SETD5):c.3196-8C>T	SETD5	Single nucleotide variant (intron variant)	SETD5-related disorder +2 more	GBenign/Likely benign
Select item 2069415	NM_001080517.3(SETD5):c.3260G>A (p.Gly1087Asp)	SETD5 (G1087D +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder +1 more	GLikely benign
Select item 1205203	NM_001080517.3(SETD5):c.3327C>A (p.Asp1109Glu)	SETD5 (D1011E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3030353	NM_001080517.3(SETD5):c.3570G>T (p.Arg1190Ser)	SETD5 (R1092S +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder	GUncertain significance
Select item 1310647	NM_001080517.3(SETD5):c.3570G>C (p.Arg1190Ser)	SETD5 (R1092S +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder +1 more	GUncertain significance
Select item 871927	NM_001080517.3(SETD5):c.3721-1G>A	SETD5	Single nucleotide variant (splice acceptor variant)	SETD5-related disorder +1 more	GUncertain significance
Select item 2069306	NM_001080517.3(SETD5):c.3853C>G (p.Pro1285Ala)	SETD5 (P1187A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3058080	NM_001080517.3(SETD5):c.3861C>T (p.His1287=)	SETD5	Single nucleotide variant (synonymous variant)	SETD5-related disorder	GLikely benign
Select item 775845	NM_001080517.3(SETD5):c.3929C>T (p.Ser1310Leu)	SETD5 (S1310L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1289497	NM_001080517.3(SETD5):c.4065G>A (p.Ser1355=)	SETD5	Single nucleotide variant (synonymous variant)	SETD5-related disorder +1 more	GBenign/Likely benign
Select item 2633196	NM_001080517.3(SETD5):c.4151C>T (p.Ser1384Leu)	SETD5 (S1286L +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder	GUncertain significance
Select item 2629697	NM_001080517.3(SETD5):c.4178G>T (p.Ser1393Ile)	SETD5 (S1295I +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder	GUncertain significance
Select item 3031583	NM_001080517.3(SETD5):c.4186C>T (p.Gln1396Ter)	SETD5 (Q1298* +1 more)	Single nucleotide variant (nonsense)	SETD5-related disorder	GLikely pathogenic
Select item 2628806	NM_001080517.3(SETD5):c.4277G>A (p.Arg1426Gln)	SETD5 (R1328Q +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder	GUncertain significance

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Items: 47