SETD5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	MTMR14, OGG1 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	LOC129936144, LOC129936145 +271 more	Copy number loss	See cases	GPathogenic
Select item 151534	GRCh38/hg38 3p26.3-25.3(chr3:32241-9574994)x1	LOC129936120, LOC129936121 +184 more	Copy number loss	See cases	GPathogenic
Select item 150393	GRCh38/hg38 3p26.3-25.3(chr3:32241-9469506)x1	LOC100130207, LOC101927394 +181 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	LOC112935932, LOC112935963 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936094, LOC129936095 +647 more	Copy number gain	See cases	GPathogenic
Select item 148015	GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	ANKRD28, ARL8B +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	LOC129936377, LOC129936378 +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57736	GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	LOC129929025, LOC129929026 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 148254	GRCh38/hg38 3p25.3(chr3:8812036-9953438)x3	ARPC4, ARPC4-TTLL3 +68 more	Copy number gain	See cases	GUncertain significance
Select item 149536	GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3	ARPC4, ARPC4-TTLL3 +81 more	Copy number gain	See cases	GUncertain significance
Select item 150505	GRCh38/hg38 3p25.3(chr3:9142303-9793982)x3	ARPC4, ARPC4-TTLL3 +40 more	Copy number gain	See cases	GUncertain significance
Select item 57199	GRCh38/hg38 3p25.3(chr3:9221810-9727021)x3	CPNE9, LHFPL4 +19 more	Copy number gain	See cases	GUncertain significance
Select item 57741	GRCh38/hg38 3p25.3(chr3:9393349-9956171)x1	ARPC4, ARPC4-TTLL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 148359	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	ARPC4, ARPC4-TTLL3 +118 more	Copy number loss	See cases	GPathogenic
Select item 1695843	NM_001080517.3(SETD5):c.-4C>T	SETD5	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2505643	NM_001080517.3(SETD5):c.-2T>C	SETD5	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2578084	NM_001080517.3(SETD5):c.8T>C (p.Ile3Thr)	SETD5 (I3T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2970654	NM_001080517.3(SETD5):c.10G>T (p.Ala4Ser)	SETD5 (A4S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1367201	NM_001080517.3(SETD5):c.13A>G (p.Ile5Val)	SETD5 (I5V)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2181850	NM_001080517.3(SETD5):c.14T>A (p.Ile5Asn)	SETD5 (I5N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2632388	NM_001080517.3(SETD5):c.19C>G (p.Leu7Val)	SETD5 (L7V)	Single nucleotide variant (missense variant +1 more)	SETD5-related condition	GUncertain significance
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 2795619	NM_001080517.3(SETD5):c.31A>G (p.Thr11Ala)	SETD5 (T11A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1944138	NM_001080517.3(SETD5):c.35C>T (p.Ser12Leu)	SETD5 (S12L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1685095	NM_001080517.3(SETD5):c.51A>G (p.Ser17=)	SETD5	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 1700384	NM_001080517.3(SETD5):c.67T>G (p.Ser23Ala)	SETD5 (S23A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1690438	NM_001080517.3(SETD5):c.71+3A>G	SETD5	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 1923454	NM_001080517.3(SETD5):c.71+19G>A	SETD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974451	NM_001080517.3(SETD5):c.72-13C>T	SETD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008448	NM_001080517.3(SETD5):c.72-12G>A	SETD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645789	NM_001080517.3(SETD5):c.72-9T>C	SETD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2653471	NM_001080517.3(SETD5):c.87G>A (p.Glu29=)	SETD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1375996	NM_001080517.3(SETD5):c.113G>A (p.Ser38Asn)	SETD5 (S38N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1199191	NM_001080517.3(SETD5):c.116T>G (p.Val39Gly)	SETD5 (V39G)	Single nucleotide variant (missense variant +1 more)	SETD5-related syndromic intellectual disability	GUncertain significance
Select item 713197	NM_001080517.3(SETD5):c.123C>A (p.Ser41=)	SETD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2227714	NM_001080517.3(SETD5):c.128A>G (p.His43Arg)	SETD5 (H43R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1556291	NM_001080517.3(SETD5):c.141C>T (p.Thr47=)	SETD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1519836	NM_001080517.3(SETD5):c.150G>C (p.Arg50Ser)	SETD5 (R50S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2802124	NM_001080517.3(SETD5):c.156G>A (p.Gly52=)	SETD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1310988	NM_001080517.3(SETD5):c.161G>A (p.Arg54Gln)	SETD5 (R54Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2284042	NM_001080517.3(SETD5):c.173A>G (p.Tyr58Cys)	SETD5 (Y58C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 988412	NM_001080517.3(SETD5):c.174T>A (p.Tyr58Ter)	SETD5 (Y58*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1570356	NM_001080517.3(SETD5):c.177+11A>G	SETD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218993	NM_001080517.3(SETD5):c.178-114T>C	SETD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1501131	NM_001080517.3(SETD5):c.178-3C>G	SETD5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2128659	NM_001080517.3(SETD5):c.180G>T (p.Thr60=)	SETD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1987009	NM_001080517.3(SETD5):c.180G>A (p.Thr60=)	SETD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3030652	NM_001080517.3(SETD5):c.189T>C (p.Pro63=)	SETD5	Single nucleotide variant (synonymous variant +1 more)	SETD5-related condition	GLikely benign
Select item 2815234	NM_001080517.3(SETD5):c.190C>G (p.Arg64Gly)	SETD5 (R64G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2280685	NM_001080517.3(SETD5):c.190C>T (p.Arg64Cys)	SETD5 (R64C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1223806	NM_001080517.3(SETD5):c.191G>A (p.Arg64His)	SETD5 (R64H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 736003	NM_001080517.3(SETD5):c.191G>C (p.Arg64Pro)	SETD5 (R64P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2767460	NM_001080517.3(SETD5):c.199C>T (p.Leu67=)	SETD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1548816	NM_001080517.3(SETD5):c.213G>A (p.Pro71=)	SETD5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2191464	NM_001080517.3(SETD5):c.215C>T (p.Ser72Leu)	SETD5 (S72L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2483537	NM_001080517.3(SETD5):c.220G>A (p.Val74Ile)	SETD5 (V74I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2123274	NM_001080517.3(SETD5):c.229C>A (p.Arg77Ser)	SETD5 (R77S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 780373	NM_001080517.3(SETD5):c.230G>A (p.Arg77His)	SETD5 (R77H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2629858	NM_001080517.3(SETD5):c.235G>A (p.Gly79Arg)	SETD5 (G79R)	Single nucleotide variant (missense variant +1 more)	SETD5-related condition	GUncertain significance
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 436692	NM_001080517.3(SETD5):c.245C>T (p.Pro82Leu)	SETD5 (P82L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 3011341	NM_001080517.3(SETD5):c.246G>A (p.Pro82=)	SETD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2636479	NM_001080517.3(SETD5):c.257G>A (p.Gly86Glu)	SETD5 (G86E)	Single nucleotide variant (missense variant +1 more)	SETD5-related condition	GUncertain significance
Select item 2129970	NM_001080517.3(SETD5):c.262A>G (p.Thr88Ala)	SETD5 (T88A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1511417	NM_001080517.3(SETD5):c.263C>A (p.Thr88Asn)	SETD5 (T88N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2798653	NM_001080517.3(SETD5):c.265G>A (p.Val89Ile)	SETD5 (V89I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2808590	NM_001080517.3(SETD5):c.270T>A (p.Pro90=)	SETD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1700306	NM_001080517.3(SETD5):c.278G>A (p.Cys93Tyr)	SETD5 (C93Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1810631	NM_001080517.3(SETD5):c.293C>G (p.Ser98Cys)	SETD5 (S98C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 737463	NM_001080517.3(SETD5):c.312C>T (p.Leu104=)	SETD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2637545	NM_001080517.3(SETD5):c.316T>C (p.Cys106Arg)	SETD5 (C106R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2444736	NM_001080517.3(SETD5):c.327C>T (p.Cys109=)	SETD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2144744	NM_001080517.3(SETD5):c.328A>G (p.Arg110Gly)	SETD5 (R110G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 432470	NM_001080517.3(SETD5):c.329+5G>A	SETD5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1901162	NM_001080517.3(SETD5):c.329+11G>T	SETD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2123038	NM_001080517.3(SETD5):c.329+14C>T	SETD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1337236	NM_001080517.3(SETD5):c.330-6C>T	SETD5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 436682	NM_001080517.3(SETD5):c.330-3T>C	SETD5	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 871918	NM_001080517.3(SETD5):c.343G>C (p.Gly115Arg)	SETD5 (G115R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930768	NM_001080517.3(SETD5):c.345G>A (p.Gly115=)	SETD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 936634	NM_001080517.3(SETD5):c.365G>A (p.Arg122Gln)	SETD5 (R11Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1969917	NM_001080517.3(SETD5):c.366G>A (p.Arg122=)	SETD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 235575	NM_001080517.3(SETD5):c.382A>G (p.Ile128Val)	SETD5 (I128V +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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

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