ClinVar for Gene (Select 83448) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3149869	NM_031292.5(PUS7L):c.833T>G (p.Val278Gly)	PUS7L (V278G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149868	NM_031292.5(PUS7L):c.542A>G (p.Gln181Arg)	PUS7L (Q181R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149867	NM_031292.5(PUS7L):c.517G>A (p.Ala173Thr)	PUS7L (A173T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149866	NM_031292.5(PUS7L):c.404A>C (p.Glu135Ala)	PUS7L (E135A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149865	NM_031292.5(PUS7L):c.325G>A (p.Asp109Asn)	PUS7L (D109N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149864	NM_031292.5(PUS7L):c.1939C>T (p.His647Tyr)	PUS7L (H334Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149862	NM_031292.5(PUS7L):c.1097A>T (p.Glu366Val)	PUS7L (E53V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149861	NM_031292.5(PUS7L):c.106G>A (p.Val36Ile)	PUS7L (V36I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 2613380	NM_031292.5(PUS7L):c.965C>G (p.Ala322Gly)	PUS7L (A9G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610671	NM_031292.5(PUS7L):c.1519C>T (p.Arg507Cys)	PUS7L (R194C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540437	NM_031292.5(PUS7L):c.1721G>A (p.Ser574Asn)	PUS7L (S261N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537758	NM_031292.5(PUS7L):c.707A>T (p.Asp236Val)	PUS7L (D236V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536278	NM_031292.5(PUS7L):c.107T>C (p.Val36Ala)	PUS7L (V36A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532505	NM_031292.5(PUS7L):c.251G>A (p.Arg84Lys)	PUS7L (R84K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495740	NM_031292.5(PUS7L):c.1283A>T (p.Tyr428Phe)	PUS7L (Y115F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486630	NM_031292.5(PUS7L):c.160A>T (p.Ile54Phe)	PUS7L (I54F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456845	NM_031292.5(PUS7L):c.250A>G (p.Arg84Gly)	PUS7L (R84G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454488	NM_031292.5(PUS7L):c.1540G>A (p.Gly514Ser)	PUS7L (G201S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400592	NM_031292.5(PUS7L):c.334G>A (p.Val112Ile)	PUS7L (V112I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393230	NM_031292.5(PUS7L):c.1891C>T (p.Pro631Ser)	PUS7L (P318S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388263	NM_031292.5(PUS7L):c.1829T>A (p.Val610Glu)	PUS7L (V297E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388219	NM_031292.5(PUS7L):c.815C>T (p.Pro272Leu)	PUS7L (P272L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380710	NM_031292.5(PUS7L):c.141T>G (p.Asn47Lys)	PUS7L (N47K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369027	NM_031292.5(PUS7L):c.1578G>A (p.Met526Ile)	PUS7L (M526I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352440	NM_031292.5(PUS7L):c.518C>A (p.Ala173Asp)	PUS7L (A173D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351560	NM_031292.5(PUS7L):c.1777C>G (p.Gln593Glu)	PUS7L (Q593E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348685	NM_031292.5(PUS7L):c.151G>A (p.Asp51Asn)	PUS7L (D51N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2347297	NM_031292.5(PUS7L):c.1453A>G (p.Lys485Glu)	PUS7L (K485E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343089	NM_031292.5(PUS7L):c.923G>T (p.Arg308Leu)	PUS7L (R308L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329920	NM_031292.5(PUS7L):c.1576A>G (p.Met526Val)	PUS7L (M213V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329749	NM_031292.5(PUS7L):c.673A>G (p.Lys225Glu)	PUS7L (K225E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320042	NM_031292.5(PUS7L):c.490G>A (p.Gly164Ser)	PUS7L (G164S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314223	NM_031292.5(PUS7L):c.1291C>T (p.Pro431Ser)	PUS7L (P118S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301202	NM_031292.5(PUS7L):c.356A>G (p.Glu119Gly)	PUS7L (E119G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293813	NM_031292.5(PUS7L):c.766C>T (p.Leu256Phe)	PUS7L (L256F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285946	NM_031292.5(PUS7L):c.2047C>T (p.Leu683Phe)	PUS7L (L370F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273104	NM_031292.5(PUS7L):c.786T>G (p.Phe262Leu)	PUS7L (F262L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273103	NM_031292.5(PUS7L):c.232C>G (p.Leu78Val)	PUS7L (L78V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266827	NM_031292.5(PUS7L):c.1636A>G (p.Arg546Gly)	PUS7L (R233G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256434	NM_031292.5(PUS7L):c.1922A>G (p.Tyr641Cys)	PUS7L (Y641C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253187	NM_031292.5(PUS7L):c.1517A>C (p.His506Pro)	PUS7L (H193P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247946	NM_031292.5(PUS7L):c.1269A>T (p.Lys423Asn)	PUS7L (K110N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234060	NM_031292.5(PUS7L):c.332T>C (p.Ile111Thr)	PUS7L (I111T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233155	NM_031292.5(PUS7L):c.2044G>A (p.Asp682Asn)	PUS7L (D369N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224451	NM_031292.5(PUS7L):c.273G>C (p.Leu91Phe)	PUS7L (L91F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223539	NM_031292.5(PUS7L):c.1649A>G (p.Tyr550Cys)	PUS7L (Y550C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219035	NM_031292.5(PUS7L):c.859C>T (p.Arg287Cys)	PUS7L (R287C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217986	NM_031292.5(PUS7L):c.985C>T (p.Pro329Ser)	PUS7L (P16S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808488	GRCh37/hg19 12q12(chr12:44080990-44354797)x1	IRAK4, PUS7L +2 more	Copy number loss	not provided	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979962	GRCh37/hg19 12q12(chr12:43953566-46197331)x3	DBX2, ANO6 +6 more	Copy number gain	not provided	GUncertain significance
Select item 563924	GRCh37/hg19 12q12(chr12:44091295-44354797)x1	PUS7L, TWF1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 563921	GRCh37/hg19 12q12(chr12:44090896-44343135)x1	PUS7L, TWF1 +2 more	Copy number loss	not provided	GLikely benign
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic
Select item 155670	GRCh38/hg38 12q12(chr12:43477600-44820113)x4	ADAMTS20, IRAK4 +18 more	Copy number gain	See cases	GLikely benign
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 149635	GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1	ADAMTS20, ANO6 +113 more	Copy number loss	See cases	GPathogenic
Select item 146347	GRCh38/hg38 12q12(chr12:43514638-44793576)x3	ADAMTS20, IRAK4 +18 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 64