30022[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 1239478	NC_000005.10:g.149729916C>T	PPARGC1B	Single nucleotide variant	not provided	GBenign
Select item 2606959	NM_133263.4(PPARGC1B):c.16T>C (p.Cys6Arg)	PPARGC1B (C6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327555	NM_133263.4(PPARGC1B):c.22G>A (p.Ala8Thr)	PPARGC1B (A8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217042	NM_133263.4(PPARGC1B):c.39G>T (p.Glu13Asp)	PPARGC1B (E13D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395253	NM_133263.4(PPARGC1B):c.62A>G (p.Tyr21Cys)	PPARGC1B (Y21C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1257595	NM_133263.4(PPARGC1B):c.78+41336C>T	PPARGC1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269943	NM_133263.4(PPARGC1B):c.78+41465A>T	PPARGC1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269772	NM_133263.4(PPARGC1B):c.78+41724G>A	PPARGC1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245490	NM_133263.4(PPARGC1B):c.79-107G>A	PPARGC1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780570	NM_133263.4(PPARGC1B):c.91G>A (p.Gly31Arg)	PPARGC1B (G6R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3217025	NM_133263.4(PPARGC1B):c.125T>G (p.Leu42Arg)	PPARGC1B (L42R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1253494	NM_133263.4(PPARGC1B):c.126T>C (p.Leu42=)	PPARGC1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2268922	NM_133263.4(PPARGC1B):c.167C>T (p.Thr56Ile)	PPARGC1B (T31I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347326	NM_133263.4(PPARGC1B):c.227G>A (p.Ser76Asn)	PPARGC1B (S51N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1227974	NM_133263.4(PPARGC1B):c.252+233A>G	PPARGC1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236342	NM_133263.4(PPARGC1B):c.252+284G>C	PPARGC1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263688	NM_133263.4(PPARGC1B):c.253-296G>A	PPARGC1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221620	NM_133263.4(PPARGC1B):c.253-244G>A	PPARGC1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237166	NM_133263.4(PPARGC1B):c.253-132G>A	PPARGC1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3217035	NM_133263.4(PPARGC1B):c.280G>C (p.Ala94Pro)	PPARGC1B (A69P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293413	NM_133263.4(PPARGC1B):c.316G>A (p.Asp106Asn)	PPARGC1B (D106N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376991	NM_133263.4(PPARGC1B):c.325G>A (p.Gly109Ser)	PPARGC1B (G109S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217040	NM_133263.4(PPARGC1B):c.374C>T (p.Thr125Ile)	PPARGC1B (T100I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217041	NM_133263.4(PPARGC1B):c.391C>G (p.Pro131Ala)	PPARGC1B (P131A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715843	NM_133263.4(PPARGC1B):c.408C>G (p.Pro136=)	PPARGC1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2593716	NM_133263.4(PPARGC1B):c.461C>T (p.Ser154Leu)	PPARGC1B (S154L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1253112	NM_133263.4(PPARGC1B):c.465+83G>A	PPARGC1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3309085	NM_133263.4(PPARGC1B):c.482T>G (p.Leu161Arg)	PPARGC1B (L161R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345170	NM_133263.4(PPARGC1B):c.496C>G (p.Pro166Ala)	PPARGC1B (P166A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217043	NM_133263.4(PPARGC1B):c.512A>G (p.Asp171Gly)	PPARGC1B (D171G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2039	NM_133263.4(PPARGC1B):c.607G>C (p.Ala203Pro)	PPARGC1B (A203P +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3309094	NM_133263.4(PPARGC1B):c.637T>C (p.Cys213Arg)	PPARGC1B (C174R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217044	NM_133263.4(PPARGC1B):c.704C>T (p.Pro235Leu)	PPARGC1B (P171L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1238021	NM_133263.4(PPARGC1B):c.794G>A (p.Arg265Gln)	PPARGC1B (R201Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1288207	NM_133263.4(PPARGC1B):c.835G>A (p.Val279Ile)	PPARGC1B (V215I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3217045	NM_133263.4(PPARGC1B):c.862G>T (p.Val288Leu)	PPARGC1B (V224L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217046	NM_133263.4(PPARGC1B):c.871A>G (p.Ile291Val)	PPARGC1B (I227V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1288654	NM_133263.4(PPARGC1B):c.874C>A (p.Arg292Ser)	PPARGC1B (R228S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3309093	NM_133263.4(PPARGC1B):c.878A>G (p.Tyr293Cys)	PPARGC1B (Y229C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533570	NM_133263.4(PPARGC1B):c.887C>G (p.Thr296Ser)	PPARGC1B (T232S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309089	NM_133263.4(PPARGC1B):c.901C>G (p.Gln301Glu)	PPARGC1B (Q301E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395715	NM_133263.4(PPARGC1B):c.962A>G (p.Gln321Arg)	PPARGC1B (Q257R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405958	NM_133263.4(PPARGC1B):c.977G>A (p.Arg326Gln)	PPARGC1B (R262Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769666	NM_133263.4(PPARGC1B):c.988C>T (p.Arg330Trp)	PPARGC1B (R266W +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3217023	NM_133263.4(PPARGC1B):c.1009T>C (p.Trp337Arg)	PPARGC1B (W337R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309096	NM_133263.4(PPARGC1B):c.1042G>A (p.Ala348Thr)	PPARGC1B (A309T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720362	NM_133263.4(PPARGC1B):c.1051G>A (p.Val351Met)	PPARGC1B (V287M +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785146	NM_133263.4(PPARGC1B):c.1088C>T (p.Thr363Met)	PPARGC1B (T324M +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3217024	NM_133263.4(PPARGC1B):c.1123C>T (p.Pro375Ser)	PPARGC1B (P311S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610591	NM_133263.4(PPARGC1B):c.1159C>T (p.Arg387Cys)	PPARGC1B (R348C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521729	NM_133263.4(PPARGC1B):c.1163C>T (p.Pro388Leu)	PPARGC1B (P388L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1276406	NM_133263.4(PPARGC1B):c.1164G>A (p.Pro388=)	PPARGC1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769667	NM_133263.4(PPARGC1B):c.1166C>A (p.Ser389Tyr)	PPARGC1B (S389Y +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2620561	NM_133263.4(PPARGC1B):c.1171G>A (p.Val391Met)	PPARGC1B (V352M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370395	NM_133263.4(PPARGC1B):c.1210G>A (p.Gly404Arg)	PPARGC1B (G365R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309091	NM_133263.4(PPARGC1B):c.1211G>A (p.Gly404Glu)	PPARGC1B (G365E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529425	NM_133263.4(PPARGC1B):c.1228C>T (p.Arg410Cys)	PPARGC1B (R346C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454638	NM_133263.4(PPARGC1B):c.1261C>A (p.Arg421Ser)	PPARGC1B (R357S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3217026	NM_133263.4(PPARGC1B):c.1365G>T (p.Arg455Ser)	PPARGC1B (R416S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243352	NM_133263.4(PPARGC1B):c.1417G>C (p.Val473Leu)	PPARGC1B (V473L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295193	NM_133263.4(PPARGC1B):c.1477G>A (p.Ala493Thr)	PPARGC1B (A454T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351317	NM_133263.4(PPARGC1B):c.1487C>T (p.Pro496Leu)	PPARGC1B (P457L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785147	NM_133263.4(PPARGC1B):c.1499C>T (p.Ser500Leu)	PPARGC1B (S461L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2300352	NM_133263.4(PPARGC1B):c.1552G>C (p.Val518Leu)	PPARGC1B (V454L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516212	NM_133263.4(PPARGC1B):c.1555G>C (p.Glu519Gln)	PPARGC1B (E519Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713071	NM_133263.4(PPARGC1B):c.1581C>T (p.Asp527=)	PPARGC1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2258932	NM_133263.4(PPARGC1B):c.1679C>T (p.Pro560Leu)	PPARGC1B (P496L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1273814	NM_133263.4(PPARGC1B):c.1705+115A>G	PPARGC1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281500	NM_133263.4(PPARGC1B):c.1706-70C>T	PPARGC1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290059	NM_133263.4(PPARGC1B):c.1742+104C>T	PPARGC1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288678	NM_133263.4(PPARGC1B):c.1743-277G>A	PPARGC1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2258934	NM_133263.4(PPARGC1B):c.1772A>G (p.Glu591Gly)	PPARGC1B (E527G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769668	NM_133263.4(PPARGC1B):c.1785A>G (p.Thr595=)	PPARGC1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776076	NM_133263.4(PPARGC1B):c.1807+8A>G	PPARGC1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267189	NM_133263.4(PPARGC1B):c.1807+285C>G	PPARGC1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250817	NM_133263.4(PPARGC1B):c.1808-174G>A	PPARGC1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3217027	NM_133263.4(PPARGC1B):c.1838A>T (p.Lys613Met)	PPARGC1B (K613M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245574	NM_133263.4(PPARGC1B):c.1934A>G (p.Lys645Arg)	PPARGC1B (K581R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217028	NM_133263.4(PPARGC1B):c.1945G>A (p.Gly649Arg)	PPARGC1B (G649R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520942	NM_133263.4(PPARGC1B):c.1948G>C (p.Ala650Pro)	PPARGC1B (A586P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309086	NM_133263.4(PPARGC1B):c.1957A>G (p.Lys653Glu)	PPARGC1B (K589E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205938	NM_133263.4(PPARGC1B):c.1982G>A (p.Arg661Gln)	PPARGC1B (R622Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217029	NM_133263.4(PPARGC1B):c.1997C>G (p.Ser666Cys)	PPARGC1B (S627C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405993	NM_133263.4(PPARGC1B):c.2006G>A (p.Arg669Gln)	PPARGC1B (R630Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309092	NM_133263.4(PPARGC1B):c.2032C>G (p.Gln678Glu)	PPARGC1B (Q614E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494776	NM_133263.4(PPARGC1B):c.2096G>A (p.Arg699Gln)	PPARGC1B (R699Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309088	NM_133263.4(PPARGC1B):c.2167C>T (p.Pro723Ser)	PPARGC1B (P723S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217030	NM_133263.4(PPARGC1B):c.2189C>T (p.Ala730Val)	PPARGC1B (A666V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217031	NM_133263.4(PPARGC1B):c.2191G>A (p.Glu731Lys)	PPARGC1B (E667K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523759	NM_133263.4(PPARGC1B):c.2200G>A (p.Ala734Thr)	PPARGC1B (A670T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1226090	NM_133263.4(PPARGC1B):c.2238C>T (p.Gly746=)	PPARGC1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2591693	NM_133263.4(PPARGC1B):c.2239G>A (p.Ala747Thr)	PPARGC1B (A708T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217032	NM_133263.4(PPARGC1B):c.2258C>T (p.Thr753Met)	PPARGC1B (T714M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3309097	NM_133263.4(PPARGC1B):c.2282G>T (p.Arg761Leu)	PPARGC1B (R722L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309095	NM_133263.4(PPARGC1B):c.2282G>A (p.Arg761His)	PPARGC1B (R722H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1275579	NM_133263.4(PPARGC1B):c.2286C>T (p.Ala762=)	PPARGC1B	Single nucleotide variant (synonymous variant)	not provided	GBenign

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