ClinVar for Gene (Select 10713) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331532	NM_006590.4(USP39):c.958G>T (p.Val320Phe)	USP39 (V217F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331531	NM_006590.4(USP39):c.145C>T (p.Arg49Cys)	USP39 (R49C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331530	NM_006590.4(USP39):c.149T>C (p.Val50Ala)	USP39 (V50A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187570	NM_006590.4(USP39):c.7G>A (p.Gly3Ser)	USP39 (G3S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3187569	NM_006590.4(USP39):c.788A>G (p.Lys263Arg)	USP39 (K160R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187568	NM_006590.4(USP39):c.432A>T (p.Gln144His)	USP39 (Q144H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187567	NM_006590.4(USP39):c.40C>T (p.Arg14Cys)	USP39 (R14C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187566	NM_006590.4(USP39):c.31G>A (p.Gly11Ser)	USP39 (G11S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187564	NM_006590.4(USP39):c.307C>T (p.Arg103Cys)	USP39 (R103C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187563	NM_006590.4(USP39):c.23A>G (p.Glu8Gly)	USP39 (E8G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187561	NM_006590.4(USP39):c.1490A>G (p.Tyr497Cys)	USP39 (Y394C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187560	NM_006590.4(USP39):c.1432G>A (p.Val478Met)	USP39 (V400M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187559	NM_006590.4(USP39):c.1381A>T (p.Asn461Tyr)	USP39 (N358Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187558	NM_006590.4(USP39):c.124A>C (p.Ser42Arg)	USP39 (S42R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187557	NM_006590.4(USP39):c.1028C>G (p.Thr343Ser)	USP39 (T265S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062403	GRCh37/hg19 2p11.2(chr2:85860694-85917890)x1	SFTPB, USP39	Copy number loss	not specified	GPathogenic
Select item 2651095	NM_006590.4(USP39):c.300G>C (p.Arg100=)	USP39	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2526412	NM_006590.4(USP39):c.157G>C (p.Glu53Gln)	USP39 (E53Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513364	NM_006590.4(USP39):c.1531G>A (p.Glu511Lys)	USP39 (E408K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2426780	NC_000002.11:g.(?_85766411)_(86564633_?)del	ATOH8, C2orf68 +15 more	Deletion	Hereditary spastic paraplegia 31	GPathogenic
Select item 2392638	NM_006590.4(USP39):c.232G>A (p.Val78Ile)	USP39 (V78I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386253	NM_006590.4(USP39):c.1690G>C (p.Gly564Arg)	USP39 (G486R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2383885	NM_006590.4(USP39):c.1531G>C (p.Glu511Gln)	USP39 (E511Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2342258	NM_006590.4(USP39):c.944A>G (p.Lys315Arg)	USP39 (K315R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331752	NM_006590.4(USP39):c.993C>G (p.His331Gln)	USP39 (H331Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330327	NM_006590.4(USP39):c.173G>T (p.Ser58Ile)	USP39 (S58I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329572	NM_006590.4(USP39):c.1603A>G (p.Thr535Ala)	USP39 (T432A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2310052	NM_006590.4(USP39):c.74C>T (p.Ser25Phe)	USP39 (S25F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306649	NM_006590.4(USP39):c.1013A>G (p.Lys338Arg)	USP39 (K235R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262315	NM_006590.4(USP39):c.119C>T (p.Ala40Val)	USP39 (A40V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255474	NM_006590.4(USP39):c.134G>A (p.Gly45Asp)	USP39 (G45D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252212	NM_006590.4(USP39):c.1670A>G (p.Asn557Ser)	USP39 (N454S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2224830	NM_006590.4(USP39):c.1326G>C (p.Gln442His)	USP39 (Q339H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223397	NM_001013649.4(C2orf68):c.211C>A (p.Leu71Met)	C2orf68, USP39 (L71M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217184	NM_006590.4(USP39):c.1681A>G (p.Asn561Asp)	USP39 (N561D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2204990	NM_006590.4(USP39):c.226C>T (p.Arg76Cys)	USP39 (R76C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809304	GRCh37/hg19 2p11.2(chr2:85786007-86559358)x3	ATOH8, C2orf68 +14 more	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526840	GRCh37/hg19 2p12-11.2(chr2:82486900-87322042)	ATOH8, C2orf68 +35 more	Copy number loss	not specified	GPathogenic
Select item 1180533	GRCh37/hg19 2p12-11.2(chr2:81209244-86688030)x1	ELMOD3, GGCX +27 more	Copy number loss	not provided	GPathogenic
Select item 980433	GRCh37/hg19 2p11.2(chr2:85786006-86559358)x3	GGCX, VAMP5 +14 more	Copy number gain	not provided	GUncertain significance
Select item 685879	GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1	ATOH8, C2orf68 +41 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 562661	GRCh37/hg19 2p12-11.2(chr2:82517612-86262705)x3	MAT2A, TCF7L1 +22 more	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 221379	GRCh37/hg19 2p11.2(chr2:85598271-85843453)x3	C2orf68, CAPG +9 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 53