ClinVar for Gene (Select 1848) - ClinVar

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Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3086347	NM_001946.4(DUSP6):c.62C>T (p.Ala21Val)	DUSP6 (A21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086346	NM_001946.4(DUSP6):c.328G>A (p.Gly110Ser)	DUSP6 (G110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086345	NM_001946.4(DUSP6):c.23T>G (p.Val8Gly)	DUSP6 (V8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 3003927	NM_001946.4(DUSP6):c.303C>T (p.Ser101=)	DUSP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988619	NM_001946.4(DUSP6):c.434T>G (p.Leu145Arg)	DUSP6 (L145R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2885072	NM_001946.4(DUSP6):c.35C>T (p.Ser12Leu)	DUSP6 (S12L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706764	NM_001946.4(DUSP6):c.747C>T (p.Asn249=)	DUSP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2693827	NM_001946.4(DUSP6):c.382C>T (p.Arg128Trp)	DUSP6 (R128W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684680	GRCh37/hg19 12q21.33(chr12:89330254-90734509)x3	ATP2B1, DUSP6 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2643212	NM_001946.4(DUSP6):c.79C>T (p.Leu27=)	DUSP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643211	NM_001946.4(DUSP6):c.216G>T (p.Pro72=)	DUSP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643210	NM_001946.4(DUSP6):c.824C>A (p.Ala275Asp)	DUSP6 (A275D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2620040	NM_001946.4(DUSP6):c.32C>T (p.Ala11Val)	DUSP6 (A11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568252	NM_001946.4(DUSP6):c.283G>A (p.Val95Met)	DUSP6 (V95M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401259	NM_001946.4(DUSP6):c.88G>T (p.Gly30Cys)	DUSP6 (G30C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332999	NM_001946.4(DUSP6):c.1112A>T (p.Asn371Ile)	DUSP6 (N371I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260847	NM_001946.4(DUSP6):c.279C>G (p.Asp93Glu)	DUSP6 (D93E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240574	NM_001946.4(DUSP6):c.506G>A (p.Gly169Asp)	DUSP6 (G169D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228322	NM_001946.4(DUSP6):c.809A>G (p.Gln270Arg)	DUSP6 (Q270R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2071931	NM_001946.4(DUSP6):c.838+3G>C	DUSP6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2068416	NM_001946.4(DUSP6):c.401-18C>T	DUSP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988296	NM_001946.4(DUSP6):c.400+12G>A	DUSP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987194	NM_001946.4(DUSP6):c.401-18C>G	DUSP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911310	NM_001946.4(DUSP6):c.839-22_839-19del	DUSP6	Deletion (intron variant)	not provided	GLikely benign
Select item 1659120	NM_001946.4(DUSP6):c.462G>A (p.Ser154=)	DUSP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1604976	NM_001946.4(DUSP6):c.234G>T (p.Thr78=)	DUSP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1598843	NM_001946.4(DUSP6):c.954= (p.Asp318=)	DUSP6	Variation (no sequence alteration)	not provided	GBenign
Select item 1527721	GRCh37/hg19 12q21.33(chr12:89546727-89911511)	DUSP6, POC1B	Copy number loss	not specified	GUncertain significance
Select item 1514734	NC_000012.11:g.(?_88442961)_(89919672_?)dup	CEP290, DUSP6 +6 more	Duplication	not provided	GUncertain significance
Select item 1488011	NM_001946.4(DUSP6):c.422C>A (p.Ala141Asp)	DUSP6 (A141D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1449809	NM_001946.4(DUSP6):c.215C>A (p.Pro72Gln)	DUSP6 (P72Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446307	NM_001946.4(DUSP6):c.358A>C (p.Lys120Gln)	DUSP6 (K120Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335114	NM_001946.4(DUSP6):c.94G>A (p.Glu32Lys)	DUSP6 (E32K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1309605	NM_001946.4(DUSP6):c.975G>A (p.Met325Ile)	DUSP6 (M179I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306581	NM_001946.4(DUSP6):c.306C>A (p.Ser102Arg)	DUSP6 (S102R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1292720	NM_001946.4(DUSP6):c.401-24T>C	DUSP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268548	NM_001946.4(DUSP6):c.*300A>G	DUSP6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1261506	NM_001946.4(DUSP6):c.430T>G (p.Ser144Ala)	DUSP6 (S144A)	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1260187	NM_001946.4(DUSP6):c.260C>T (p.Thr87Ile)	DUSP6 (T87I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1250149	NM_001946.4(DUSP6):c.401-214G>A	DUSP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238764	NM_001946.4(DUSP6):c.400+298A>G	DUSP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237614	NM_001946.4(DUSP6):c.839-276T>C	DUSP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230916	NM_001946.4(DUSP6):c.401-113T>A	DUSP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230616	NM_001946.4(DUSP6):c.400+231T>C	DUSP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229511	NM_001946.4(DUSP6):c.839-299C>T	DUSP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226329	NM_001946.4(DUSP6):c.839-251C>T	DUSP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225295	NM_001946.4(DUSP6):c.838+119A>C	DUSP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218279	NM_001946.4(DUSP6):c.838+263G>A	DUSP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190831	NM_001946.4(DUSP6):c.-316T>C	DUSP6	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1033462	NM_001946.4(DUSP6):c.117C>A (p.Cys39Ter)	DUSP6 (C39*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 19 with or without anosmia	GPathogenic
Select item 1029551	NM_001946.4(DUSP6):c.169G>A (p.Ala57Thr)	DUSP6 (A57T)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 19 with or without anosmia +1 more	GUncertain significance
Select item 833258	NC_000012.12:g.(?_88516334)_(89591295_?)del	ATP2B1, DUSP6 +4 more	Deletion	not provided	GPathogenic
Select item 802882	NM_001946.4(DUSP6):c.340G>T (p.Val114Leu)	DUSP6 (V114L)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 19 with or without anosmia +1 more	GBenign
Select item 783132	NM_001946.4(DUSP6):c.954T>C (p.Asp318=)	DUSP6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 752065	NM_001946.4(DUSP6):c.126G>A (p.Gln42=)	DUSP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749814	NM_001946.4(DUSP6):c.285G>A (p.Val95=)	DUSP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741504	NM_001946.4(DUSP6):c.1095C>T (p.Thr365=)	DUSP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735328	NM_001946.4(DUSP6):c.957C>T (p.Ala319=)	DUSP6	Single nucleotide variant (synonymous variant)	DUSP6-related disorder +1 more	GBenign/Likely benign
Select item 726479	NM_001946.4(DUSP6):c.252C>T (p.Asp84=)	DUSP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710023	NM_001946.4(DUSP6):c.400+7G>T	DUSP6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 686852	GRCh37/hg19 12q21.33(chr12:89544034-89910937)x1	DUSP6, POC1B	Copy number loss	not provided	GUncertain significance
Select item 666459	GRCh37/hg19 12q21.32-21.33(chr12:87296336-90301051)x1	ATP2B1, C12orf29 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 563983	GRCh37/hg19 12q21.32-21.33(chr12:87654236-91893923)x1	CCER1, ATP2B1 +13 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +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 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 50857	NM_001946.4(DUSP6):c.229T>A (p.Phe77Ile)	DUSP6 (F77I)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 19 with or without anosmia	GUncertain significance
Select item 50856	NM_001946.4(DUSP6):c.1037C>T (p.Thr346Met)	DUSP6 (T346M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 50855	NM_001946.4(DUSP6):c.545C>T (p.Ser182Phe)	DUSP6 (S182F)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 50854	NM_001946.4(DUSP6):c.566A>G (p.Asn189Ser)	DUSP6 (N189S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Links from Gene

Items: 74