Related gene-specific medical variations for Gene (Select 55209) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235075	NM_001080517.3(SETD5):c.3044A>T (p.Asp1015Val)	SETD5 (D1015V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
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 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 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 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 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 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 1992383	NM_001080517.3(SETD5):c.907G>A (p.Gly303Arg)	SETD5 (G205R +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 4	GUncertain significance
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 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 1700122	NM_001080517.3(SETD5):c.914T>G (p.Val305Gly)	SETD5 (V207G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental delay	GLikely pathogenic
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 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 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 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 1301864	NM_001080517.3(SETD5):c.2182del (p.Asp728fs)	SETD5 (D630fs +1 more)	Deletion (frameshift variant)	Hearing impairment +2 more	GLikely pathogenic
Select item 1172660	NM_001080517.1:r.627_810del	SETD5	Deletion	Global developmental delay	GPathogenic
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 987474	NM_001080517.3(SETD5):c.3016del (p.Val1006fs)	SETD5 (V1006fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987264	NM_001080517.3(SETD5):c.3172dup (p.Gln1058fs)	SETD5 (Q1058fs +1 more)	Duplication (frameshift variant)	Developmental disorder +1 more	GPathogenic
Select item 987206	NM_001080517.3(SETD5):c.2216_2217del (p.Leu739fs)	SETD5 (L641fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987190	NM_001080517.3(SETD5):c.2359C>T (p.Gln787Ter)	SETD5 (Q689* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 987012	NM_001080517.3(SETD5):c.670del (p.Gln224fs)	SETD5 (Q126fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 983409	NM_001080517.3(SETD5):c.972T>G (p.Phe324Leu)	SETD5 (F226L +1 more)	Single nucleotide variant (missense variant)	Global developmental delay	GLikely pathogenic
Select item 975774	NM_001080517.3(SETD5):c.1030G>A (p.Gly344Ser)	SETD5 (G246S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 975772	NM_001080517.3(SETD5):c.345dup (p.Lys116fs)	SETD5 (K116fs +1 more)	Duplication (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 975161	NM_001080517.3(SETD5):c.2386dup (p.Thr796fs)	SETD5 (T698fs +1 more)	Duplication (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 930414	NM_001080517.3(SETD5):c.73C>G (p.Pro25Ala)	SETD5 (P25A)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 916256	NM_001080517.3(SETD5):c.875del (p.Leu292fs)	SETD5 (L194fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 871921	NM_001080517.3(SETD5):c.1904A>G (p.Gln635Arg)	SETD5 (Q537R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 871920	NM_001080517.3(SETD5):c.1899_1902del (p.Gln633fs)	SETD5 (Q633fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 871919	NM_001080517.3(SETD5):c.1077+1G>T	SETD5	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 818222	NM_001080517.3(SETD5):c.1573_1574del (p.Leu525fs)	SETD5 (L427fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 818221	NM_001080517.3(SETD5):c.960del (p.Lys320fs)	SETD5 (K222fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 812163	NM_001080517.3(SETD5):c.897del (p.Ile299fs)	SETD5 (I299fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 520418	NM_001080517.3(SETD5):c.1931C>G (p.Ser644Ter)	SETD5 (S644* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 488444	NM_001080517.3(SETD5):c.1783-1G>C	SETD5	Single nucleotide variant (splice acceptor variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 438303	NM_001080517.3(SETD5):c.2508dup (p.Arg837fs)	SETD5 (R837fs +1 more)	Duplication (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 438302	NM_001080517.3(SETD5):c.1893_1894insA (p.Arg632fs)	SETD5 (R632fs +1 more)	Insertion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic

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Links from Gene

Items: 49