ClinVar for Gene (Select 57337) - ClinVar

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Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340479	NM_020654.5(SENP7):c.3088C>T (p.Arg1030Trp)	SENP7 (R1030W +4 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita	GUncertain significance
Select item 3317455	NM_020654.5(SENP7):c.497T>C (p.Ile166Thr)	SENP7 (I100T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317454	NM_020654.5(SENP7):c.2642A>G (p.Gln881Arg)	SENP7 (Q881R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317453	NM_020654.5(SENP7):c.458G>A (p.Arg153His)	SENP7 (R120H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3317452	NM_020654.5(SENP7):c.2065G>A (p.Val689Ile)	SENP7 (V525I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317451	NM_020654.5(SENP7):c.2720C>T (p.Ser907Leu)	SENP7 (S842L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317450	NM_020654.5(SENP7):c.2834C>G (p.Ser945Cys)	SENP7 (S781C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247040	NC_000003.11:g.(?_99509527)_(101484395_?)del	ABI3BP, ADGRG7 +16 more	Deletion	not provided	GUncertain significance
Select item 3159997	NM_020654.5(SENP7):c.463A>C (p.Ser155Arg)	SENP7 (S122R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159996	NM_020654.5(SENP7):c.436T>C (p.Cys146Arg)	SENP7 (C113R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159995	NM_020654.5(SENP7):c.2957A>G (p.Gln986Arg)	SENP7 (Q920R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159994	NM_020654.5(SENP7):c.2819C>T (p.Ser940Phe)	SENP7 (S776F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159993	NM_020654.5(SENP7):c.1965G>T (p.Leu655Phe)	SENP7 (L655F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159992	NM_020654.5(SENP7):c.192A>C (p.Glu64Asp)	SENP7 (E31D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159991	NM_020654.5(SENP7):c.1888A>G (p.Arg630Gly)	SENP7 (R564G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159990	NM_020654.5(SENP7):c.1256T>C (p.Ile419Thr)	SENP7 (I255T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159989	NM_020654.5(SENP7):c.1234G>A (p.Asp412Asn)	SENP7 (D412N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 3062674	GRCh37/hg19 3q12.2-13.11(chr3:100369522-104621416)x1	ABI3BP, ADGRG7 +11 more	Copy number loss	not specified	GUncertain significance
Select item 2685927	GRCh37/hg19 3q12.3(chr3:100947511-101244028)x3	IMPG2, SENP7	Copy number gain	not provided	GUncertain significance
Select item 2611898	NM_020654.5(SENP7):c.1569A>G (p.Ile523Met)	SENP7 (I458M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608610	NM_020654.5(SENP7):c.802A>G (p.Asn268Asp)	SENP7 (N203D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602908	NM_020654.5(SENP7):c.1024C>T (p.Pro342Ser)	SENP7 (P309S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2602407	NM_020654.5(SENP7):c.2693C>T (p.Thr898Ile)	SENP7 (T832I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600176	NM_020654.5(SENP7):c.990A>C (p.Glu330Asp)	SENP7 (E264D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591009	NM_020654.5(SENP7):c.305C>T (p.Thr102Met)	SENP7 (T69M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590811	NM_020654.5(SENP7):c.83T>C (p.Leu28Ser)	SENP7 (L28S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2569244	NM_020654.5(SENP7):c.1475A>G (p.Gln492Arg)	SENP7 (Q427R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559506	NM_020654.5(SENP7):c.3078A>G (p.Ile1026Met)	SENP7 (I862M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549317	NM_020654.5(SENP7):c.277C>T (p.Pro93Ser)	SENP7 (P60S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542181	NM_020654.5(SENP7):c.622A>G (p.Ser208Gly)	SENP7 (S142G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508882	NM_020654.5(SENP7):c.3105G>T (p.Glu1035Asp)	SENP7 (E969D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2501008	NM_020654.5(SENP7):c.1474C>T (p.Gln492Ter)	SENP7 (Q328* +4 more)	Single nucleotide variant (nonsense)	arthrogryposis multiplex congenita with neutropenia and early respiratory failure	GLikely pathogenic
Select item 2473655	NM_020654.5(SENP7):c.2224A>G (p.Thr742Ala)	SENP7 (T677A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472927	NM_020654.5(SENP7):c.691A>G (p.Ser231Gly)	SENP7 (S165G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469281	NM_020654.5(SENP7):c.2540A>G (p.Asn847Ser)	SENP7 (N683S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458882	NM_020654.5(SENP7):c.2710C>T (p.Arg904Cys)	SENP7 (R740C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395789	NM_020654.5(SENP7):c.1391A>C (p.Gln464Pro)	SENP7 (Q300P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390961	NM_020654.5(SENP7):c.2711G>A (p.Arg904His)	SENP7 (R740H +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361957	NM_020654.5(SENP7):c.746G>A (p.Arg249Gln)	SENP7 (R151Q +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352932	NM_020654.5(SENP7):c.2769G>A (p.Met923Ile)	SENP7 (M759I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334221	NM_020654.5(SENP7):c.2167T>C (p.Cys723Arg)	SENP7 (C559R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333420	NM_020654.5(SENP7):c.1739A>T (p.His580Leu)	SENP7 (H515L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324593	NM_020654.5(SENP7):c.1205T>C (p.Ile402Thr)	SENP7 (I369T +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2303874	NM_020654.5(SENP7):c.410C>T (p.Ser137Leu)	SENP7 (S104L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294378	NM_020654.5(SENP7):c.2117C>T (p.Thr706Ile)	SENP7 (T641I +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2285339	NM_020654.5(SENP7):c.245T>C (p.Ile82Thr)	SENP7 (I82T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281995	NM_020654.5(SENP7):c.2366T>C (p.Ile789Thr)	SENP7 (I789T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280973	NM_020654.5(SENP7):c.2222A>T (p.His741Leu)	SENP7 (H675L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279808	NM_020654.5(SENP7):c.84A>T (p.Leu28Phe)	SENP7 (L28F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271716	NM_020654.5(SENP7):c.2048G>A (p.Cys683Tyr)	SENP7 (C519Y +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2267442	NM_020654.5(SENP7):c.2104C>A (p.Gln702Lys)	SENP7 (Q636K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265577	NM_020654.5(SENP7):c.641A>C (p.Asn214Thr)	SENP7 (N181T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260560	NM_020654.5(SENP7):c.1478T>G (p.Met493Arg)	SENP7 (M427R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259384	NM_020654.5(SENP7):c.413C>A (p.Thr138Lys)	SENP7 (T105K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255919	NM_020654.5(SENP7):c.2350T>C (p.Tyr784His)	SENP7 (Y620H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244593	NM_020654.5(SENP7):c.3067C>T (p.Arg1023Cys)	SENP7 (R958C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238669	NM_020654.5(SENP7):c.582C>G (p.Asp194Glu)	SENP7 (D128E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226688	NM_020654.5(SENP7):c.971A>G (p.Glu324Gly)	SENP7 (E160G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225826	NM_020654.5(SENP7):c.149A>C (p.Lys50Thr)	SENP7 (K17T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527033	GRCh37/hg19 3q12.3(chr3:101191611-101938521)	CEP97, NFKBIZ +6 more	Copy number gain	not specified	GUncertain significance
Select item 1499296	NC_000003.11:g.(?_100945813)_(101284837_?)dup	IMPG2, SENP7 +1 more	Duplication	not provided	GUncertain significance
Select item 1423156	NC_000003.11:g.(?_100945813)_(101484395_?)del	CEP97, IMPG2 +5 more	Deletion	not provided	GPathogenic
Select item 980048	GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1	OR5AC2, GPR15 +39 more	Copy number loss	not provided	GLikely pathogenic
Select item 780385	NM_020654.5(SENP7):c.1909G>T (p.Asp637Tyr)	SENP7 (D571Y +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778090	NM_020654.5(SENP7):c.284+6A>C	SENP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 775887	NM_020654.5(SENP7):c.402A>G (p.Ser134=)	SENP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 731085	NM_020654.5(SENP7):c.923A>G (p.Asn308Ser)	SENP7 (N144S +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 712464	NM_020654.5(SENP7):c.723G>T (p.Gln241His)	SENP7 (Q241H +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 712463	NM_020654.5(SENP7):c.724A>T (p.Thr242Ser)	SENP7 (T176S +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 155079	GRCh38/hg38 3q12.2-12.3(chr3:100828503-101465000)x1	ABI3BP, IMPG2 +3 more	Copy number loss	See cases	GUncertain significance
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 79