ClinVar for Gene (Select 83593) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312984	NM_182663.4(RASSF5):c.167C>A (p.Ala56Glu)	LOC129932342, RASSF5 (A56E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312983	NM_182663.4(RASSF5):c.365G>A (p.Gly122Glu)	RASSF5 (G122E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312982	NM_182663.4(RASSF5):c.284C>T (p.Pro95Leu)	LOC129932343, RASSF5 (P95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312981	NM_182663.4(RASSF5):c.1120A>C (p.Ile374Leu)	EIF2D, RASSF5 (I221L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312980	NM_182663.4(RASSF5):c.628G>A (p.Glu210Lys)	EIF2D, RASSF5 (E210K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312979	NM_182663.4(RASSF5):c.232C>G (p.Arg78Gly)	RASSF5 (R78G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3151945	NM_182663.4(RASSF5):c.968G>A (p.Arg323Gln)	EIF2D, RASSF5 (R170Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151943	NM_182663.4(RASSF5):c.184G>A (p.Ala62Thr)	LOC129932342, RASSF5 (A62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151942	NM_182663.4(RASSF5):c.178C>G (p.Arg60Gly)	LOC129932342, RASSF5 (R60G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151941	NM_182663.4(RASSF5):c.160C>T (p.Pro54Ser)	LOC129932342, RASSF5 (P54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151940	NM_182663.4(RASSF5):c.130C>T (p.Leu44Phe)	LOC129932342, RASSF5 (L44F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151939	NM_182663.4(RASSF5):c.110C>T (p.Pro37Leu)	LOC129932342, RASSF5 (P37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151938	NM_182663.4(RASSF5):c.1097A>C (p.Glu366Ala)	EIF2D, RASSF5 (E213A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616014	NM_182663.4(RASSF5):c.1019G>A (p.Arg340His)	EIF2D, RASSF5 (R187H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599843	NM_182663.4(RASSF5):c.241C>G (p.Arg81Gly)	RASSF5 (R81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555789	NM_182663.4(RASSF5):c.1168G>C (p.Asp390His)	EIF2D, RASSF5 (D390H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552388	NM_182663.4(RASSF5):c.94G>C (p.Glu32Gln)	LOC129932342, RASSF5 (E32Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539720	NM_182663.4(RASSF5):c.145C>A (p.Pro49Thr)	LOC129932342, RASSF5 (P49T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472096	NM_182663.4(RASSF5):c.1051G>A (p.Asp351Asn)	EIF2D, RASSF5 (D198N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460149	NM_182663.4(RASSF5):c.818C>T (p.Thr273Ile)	EIF2D, RASSF5 (T273I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455833	NM_182663.4(RASSF5):c.202G>T (p.Gly68Trp)	LOC129932342, RASSF5 (G68W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 2410999	NM_182663.4(RASSF5):c.167C>G (p.Ala56Gly)	LOC129932342, RASSF5 (A56G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403209	NM_182663.4(RASSF5):c.134G>T (p.Cys45Phe)	LOC129932342, RASSF5 (C45F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383865	NM_182663.4(RASSF5):c.964A>G (p.Lys322Glu)	EIF2D, RASSF5 (K169E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382825	NM_182663.4(RASSF5):c.487C>T (p.Arg163Cys)	RASSF5 (R163C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352157	NM_182663.4(RASSF5):c.344T>G (p.Val115Gly)	RASSF5 (V115G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350721	NM_182663.4(RASSF5):c.238G>A (p.Ala80Thr)	RASSF5 (A80T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313729	NM_182663.4(RASSF5):c.970A>T (p.Ile324Leu)	EIF2D, RASSF5 (I171L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302778	NM_182663.4(RASSF5):c.112C>G (p.Pro38Ala)	LOC129932342, RASSF5 (P38A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279522	NM_182663.4(RASSF5):c.492C>G (p.Ser164Arg)	RASSF5 (S164R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255095	NM_182663.4(RASSF5):c.140C>T (p.Pro47Leu)	LOC129932342, RASSF5 (P47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248218	NM_182663.4(RASSF5):c.533G>A (p.Arg178Gln)	RASSF5 (R178Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235190	NM_182663.4(RASSF5):c.662G>A (p.Arg221Gln)	EIF2D, RASSF5 (R68Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 51