ClinVar for Gene (Select 5413) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317497	NM_002688.6(SEPTIN5):c.884T>C (p.Leu295Pro)	SEPT5-GP1BB, SEPTIN5 (L295P)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3317496	NM_002688.6(SEPTIN5):c.843G>A (p.Val281=)	SEPT5-GP1BB, SEPTIN5 (E287K)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3242338	GRCh37/hg19 22q11.21(chr22:19016502-21464637)x1	AIFM3, ARVCF +43 more	Copy number loss	not provided	GPathogenic
Select item 3242337	GRCh37/hg19 22q11.1-11.21(chr22:16849364-20311389)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3242284	GRCh37/hg19 22q11.21(chr22:18888685-21465668)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 3160160	NM_002688.6(SEPTIN5):c.983C>T (p.Pro328Leu)	SEPT5-GP1BB, SEPTIN5 (P328L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3160159	NM_002688.6(SEPTIN5):c.978G>C (p.Glu326Asp)	SEPT5-GP1BB, SEPTIN5 (E326D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3160158	NM_002688.6(SEPTIN5):c.930C>G (p.His310Gln)	SEPT5-GP1BB, SEPTIN5 (L316V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3160157	NM_002688.6(SEPTIN5):c.877C>T (p.His293Tyr)	SEPT5-GP1BB, SEPTIN5 (A298V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3160156	NM_002688.6(SEPTIN5):c.620G>A (p.Arg207Gln)	SEPT5-GP1BB, SEPTIN5 (R216Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3160155	NM_002688.6(SEPTIN5):c.489C>G (p.Phe163Leu)	SEPT5-GP1BB, SEPTIN5 (F163L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3160154	NM_002688.6(SEPTIN5):c.482C>G (p.Ser161Cys)	SEPT5-GP1BB, SEPTIN5 (S161C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3160153	NM_002688.6(SEPTIN5):c.389A>C (p.Asp130Ala)	SEPT5-GP1BB, SEPTIN5 (D139A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3160152	NM_002688.6(SEPTIN5):c.35C>T (p.Ala12Val)	SEPTIN5 (A12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160151	NM_002688.6(SEPTIN5):c.326C>T (p.Thr109Met)	SEPT5-GP1BB, SEPTIN5 (T109M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3160150	NM_002688.6(SEPTIN5):c.316A>G (p.Ile106Val)	SEPT5-GP1BB, SEPTIN5 (I106V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3160149	NM_002688.6(SEPTIN5):c.265C>G (p.Leu89Val)	SEPT5-GP1BB, SEPTIN5 (L89V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3160148	NM_002688.6(SEPTIN5):c.220A>C (p.Lys74Gln)	SEPT5-GP1BB, SEPTIN5 (K74Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3160147	NM_002688.6(SEPTIN5):c.184C>A (p.His62Asn)	SEPT5-GP1BB, SEPTIN5 (H71N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3148947	GRCh37/hg19 22q11.21(chr22:18648856-21800471)x1	AIFM3, ARVCF +49 more	Copy number loss	See cases	GPathogenic
Select item 3148946	GRCh37/hg19 22q11.21(chr22:18649190-21800471)x3	AIFM3, ARVCF +49 more	Copy number gain	not provided	GPathogenic
Select item 3148922	GRCh37/hg19 22q11.21(chr22:18919478-21461017)x3	AIFM3, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3148919	GRCh37/hg19 22q11.21(chr22:18649190-21022258)x3	ARVCF, C22orf39 +37 more	Copy number gain	See cases	GPathogenic
Select item 3148863	GRCh37/hg19 22q11.1-11.21(chr22:16888900-20312661)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3148859	GRCh37/hg19 22q11.21(chr22:18919478-21927646)x3	AIFM3, ARVCF +50 more	Copy number gain	not provided	GPathogenic
Select item 3062466	GRCh37/hg19 22q11.21(chr22:19651034-19879938)x3	GNB1L, GP1BB +4 more	Copy number gain	not specified	GUncertain significance
Select item 2685672	GRCh37/hg19 22q11.1-11.21(chr22:17832142-20945625)x1	RTL10, RTN4R +45 more	Copy number loss	not provided	GPathogenic
Select item 2684929	GRCh37/hg19 22q11.21(chr22:19533622-19938011)x3	COMT, GNB1L +5 more	Copy number gain	not provided	GPathogenic
Select item 2684927	GRCh37/hg19 22q11.21(chr22:18916843-20716903)x3	ARVCF, C22orf39 +30 more	Copy number gain	not provided	GPathogenic
Select item 2672921	GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1	COMT, GSC2 +46 more	Copy number loss	not provided	GPathogenic
Select item 2663892	GRCh38/hg38 22q11.21(chr22:18856290-21070117)x3	AIFM3, ARVCF +174 more	Copy number gain	Microcephaly-digital anomalies-intellectual disability syndrome	GPathogenic
Select item 2615707	NM_002688.6(SEPTIN5):c.28A>C (p.Lys10Gln)	SEPTIN5 (K10Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602942	NM_002688.6(SEPTIN5):c.213G>T (p.Lys71Asn)	SEPT5-GP1BB, SEPTIN5 (K71N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2580321	GRCh37/hg19 22q11.21(chr22:18893838-20307561)x1	ARVCF, C22orf39 +27 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 2580309	GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3	AIFM3, ARVCF +45 more	Copy number gain	Chromosome 22q11.2 deletion syndrome, distal +1 more	GPathogenic
Select item 2580291	GRCh37/hg19 22q11.21(chr22:18893838-20508931)x3	ARVCF, C22orf39 +30 more	Copy number gain	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 2579266	GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1	AIFM3, ARVCF +169 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 2574689	GRCh37/hg19 22q11.21(chr22:18916842-20311810)	COMT, ARVCF +26 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2574134	NC_000022.11:g.18948676_21110520del	LOC130066999, LOC130067004 +170 more	Deletion	Velocardiofacial syndrome	GPathogenic
Select item 2572172	NC_000022.11:g.18948676_21110520dup	LOC130066967, TSSK2 +170 more	Duplication	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2571168	GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1	TANGO2, UFD1 +45 more	Copy number loss	not provided	GPathogenic
Select item 2559197	NM_002688.6(SEPTIN5):c.843G>T (p.Val281=)	SEPT5-GP1BB, SEPTIN5 (E287*)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 2530718	NM_002688.6(SEPTIN5):c.502C>T (p.Arg168Trp)	SEPT5-GP1BB, SEPTIN5 (R168W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2520103	NM_002688.6(SEPTIN5):c.248G>A (p.Ser83Asn)	SEPT5-GP1BB, SEPTIN5 (S83N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2498202	Single allele	AIFM3, ARVCF +190 more	Deletion	22q11.2 deletion syndrome	GPathogenic
Select item 2454729	NM_002688.6(SEPTIN5):c.706C>T (p.Arg236Trp)	SEPT5-GP1BB, SEPTIN5 (R236W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2445211	Single allele	AIFM3, ARVCF +45 more	Deletion	See cases	GPathogenic
Select item 2424095	NC_000022.10:g.(?_17565982)_(20052185_?)del	ADA2, ARVCF +35 more	Deletion	Vasculitis due to ADA2 deficiency +1 more	GPathogenic
Select item 1879568	GRCh37/hg19 22q11.21(chr22:19184000-21416024)x1	RTN4R, SLC7A4 +38 more	Copy number loss	not provided	GPathogenic
Select item 1879567	GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 1879566	GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1	FAM230A, GGT2 +46 more	Copy number loss	not provided	GPathogenic
Select item 1879565	GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 1808875	GRCh37/hg19 22q11.21(chr22:18644791-21041014)x1	MRPL40, PRODH +37 more	Copy number loss	not provided	GPathogenic
Select item 1808741	GRCh37/hg19 22q11.21(chr22:18916843-21465659)x1	AIFM3, ARVCF +44 more	Copy number loss	not provided	GPathogenic
Select item 1808737	GRCh37/hg19 22q11.21(chr22:18916843-21075592)x1	ARVCF, C22orf39 +36 more	Copy number loss	not provided	GPathogenic
Select item 1808679	GRCh37/hg19 22q11.21(chr22:19336598-21208828)x1	ARVCF, C22orf39 +30 more	Copy number loss	not provided	GPathogenic
Select item 1808642	GRCh37/hg19 22q11.21(chr22:18644543-21800797)x1	C22orf39, CDC45 +49 more	Copy number loss	not provided	GPathogenic
Select item 1808633	GRCh37/hg19 22q11.21(chr22:18916843-21915509)x1	AIFM3, ARVCF +50 more	Copy number loss	not provided	GPathogenic
Select item 1808620	GRCh37/hg19 22q11.21(chr22:18648867-21798907)x3	LZTR1, KLHL22 +49 more	Copy number gain	not provided	GPathogenic
Select item 1808608	GRCh37/hg19 22q11.21(chr22:18916828-21800797)x1	AIFM3, ARVCF +47 more	Copy number loss	not provided	GPathogenic
Select item 1808421	GRCh37/hg19 22q11.21(chr22:19046677-21465662)x1	CDC45, CLTCL1 +43 more	Copy number loss	not provided	GPathogenic
Select item 1808239	GRCh37/hg19 22q11.21(chr22:18916843-20311858)x1	ARVCF, C22orf39 +26 more	Copy number loss	not provided	GPathogenic
Select item 1808077	GRCh37/hg19 22q11.21(chr22:18648867-20311858)x3	ARVCF, C22orf39 +28 more	Copy number gain	not provided	GPathogenic
Select item 1808073	GRCh37/hg19 22q11.21(chr22:19568920-19856750)x3	GNB1L, GP1BB +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807875	GRCh37/hg19 22q11.21(chr22:19647905-21153690)x1	ARVCF, COMT +24 more	Copy number loss	not provided	GPathogenic
Select item 1807729	GRCh37/hg19 22q11.21(chr22:18916843-21033401)x1	CDC45, CLDN5 +35 more	Copy number loss	not provided	GPathogenic
Select item 1807726	GRCh37/hg19 22q11.21(chr22:18916843-21800471)x1	C22orf39, AIFM3 +47 more	Copy number loss	not provided	GPathogenic
Select item 1807719	GRCh37/hg19 22q11.21(chr22:18916843-21804563)x3	AIFM3, ARVCF +47 more	Copy number gain	not provided	GPathogenic
Select item 1807705	GRCh37/hg19 22q11.21(chr22:18648867-21465659)x1	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 1807702	GRCh37/hg19 22q11.21(chr22:18916843-21798907)x3	RTL10, RTN4R +47 more	Copy number gain	not provided	GPathogenic
Select item 1711557	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x3	THAP7, TMEM191B +45 more	Copy number gain	not provided	GPathogenic
Select item 1710917	GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1	AIFM3, ARVCF +44 more	Copy number loss	See cases	GPathogenic
Select item 1708200	GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1	AIFM3, ARVCF +46 more	Copy number loss	See cases	GPathogenic
Select item 1707629	GRCh37/hg19 22q11.21(chr22:18718623-21563155)x1	AIFM3, ESS2 +47 more	Copy number loss	Syndromic anorectal malformation	GLikely pathogenic
Select item 1707626	GRCh37/hg19 22q11.21(chr22:18644702-21467607)x1	USP18, USP41 +52 more	Copy number loss	Syndromic anorectal malformation	GPathogenic
Select item 1703650	GRCh37/hg19 22q11.1-11.21(chr22:16888899-21915509)	ADA2, AIFM3 +68 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703649	GRCh37/hg19 22q11.21(chr22:18916827-21804886)	AIFM3, ARVCF +47 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703647	GRCh37/hg19 22q11.21(chr22:18917047-21465659)	AIFM3, ARVCF +44 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703644	GRCh37/hg19 22q11.21(chr22:18893344-21650280)	AIFM3, ARVCF +46 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703643	GRCh37/hg19 22q11.21(chr22:18648866-21798907)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703642	GRCh37/hg19 22q11.21(chr22:18644790-21800471)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703641	GRCh37/hg19 22q11.21(chr22:18916842-21798907)	AIFM3, ARVCF +47 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703640	GRCh37/hg19 22q11.21(chr22:18644790-21798907)	ESS2, FAM230A +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703639	GRCh37/hg19 22q11.21(chr22:18645353-21800797)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703237	Single allele	GSC2, LOC130066999 +169 more	Duplication	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703235	Single allele	LOC130066952, LOC130066953 +169 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 1701447	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x1	GSC2, CLDN5 +45 more	Copy number loss	not provided	GPathogenic
Select item 1684640	Single allele	LOC130066986, LOC130066994 +170 more	Deletion	Velocardiofacial syndrome	GPathogenic
Select item 1684558	GRCh37/hg19 22q11.21(chr22:18718028-21326012)x1	AIFM3, ARVCF +41 more	Copy number loss	See cases	GPathogenic
Select item 1684555	GRCh37/hg19 22q11.21(chr22:18884514-21484289)x1	AIFM3, ARVCF +45 more	Copy number loss	See cases	GPathogenic
Select item 1456987	NC_000022.10:g.(?_18900668)_(19747220_?)del	C22orf39, CDC45 +14 more	Deletion	DiGeorge syndrome	GPathogenic
Select item 1430756	NC_000022.10:g.(?_18900688)_(21351637_?)dup	CDC45, CLDN5 +41 more	Duplication	DiGeorge syndrome	GUncertain significance
Select item 1330206	GRCh37/hg19 22q11.21(chr22:19036286-21208284)x1	ARVCF, C22orf39 +36 more	Copy number loss	Schizophrenia	GPathogenic
Select item 1330197	GRCh37/hg19 22q11.21(chr22:18660135-21737597)x1	AIFM3, ARVCF +47 more	Copy number loss	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 1321997	GRCh37/hg19 22q11.21(chr22:18884714-21483289)x1	AIFM3, ARVCF +45 more	Copy number loss	See cases	GPathogenic
Select item 1180540	GRCh37/hg19 22q11.21(chr22:18889571-21464697)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 1180539	GRCh37/hg19 22q11.21(chr22:18889977-21463189)x3	MRPL40, P2RX6 +45 more	Copy number gain	not provided	GPathogenic
Select item 1180538	GRCh37/hg19 22q11.21(chr22:18889693-21465485)x1	CLTCL1, COMT +45 more	Copy number loss	not provided	GPathogenic
Select item 1180537	GRCh37/hg19 22q11.21(chr22:18841374-21465101)x3	THAP7, TMEM191B +45 more	Copy number gain	not provided	GPathogenic
Select item 1172811	GRCh37/hg19 22q11.21(chr22:18873001-21469900)	P2RX6, PI4KA +45 more	Copy number gain	Cerebral palsy	GPathogenic

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