ClinVar for Gene (Select 83937) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312978	NM_032023.4(RASSF4):c.757G>T (p.Ala253Ser)	RASSF4 (A253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312976	NM_032023.4(RASSF4):c.676G>A (p.Glu226Lys)	RASSF4 (E226K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151937	NM_032023.4(RASSF4):c.937C>T (p.Arg313Cys)	RASSF4 (R313C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151936	NM_032023.4(RASSF4):c.449G>C (p.Arg150Thr)	RASSF4 (R150T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151935	NM_032023.4(RASSF4):c.364G>A (p.Asp122Asn)	RASSF4 (D122N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151934	NM_032023.4(RASSF4):c.330C>A (p.Ser110Arg)	RASSF4 (S110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151933	NM_032023.4(RASSF4):c.32T>C (p.Val11Ala)	RASSF4 (V11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151932	NM_032023.4(RASSF4):c.224G>A (p.Arg75Gln)	RASSF4 (R75Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081760	NM_007021.4(DEPP1):c.548C>T (p.Ser183Phe)	DEPP1, RASSF4 (S183F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081759	NM_007021.4(DEPP1):c.262C>T (p.Arg88Cys)	DEPP1, RASSF4 (R88C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3081758	NM_007021.4(DEPP1):c.25G>A (p.Val9Met)	DEPP1, RASSF4 (V9M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081757	NM_007021.4(DEPP1):c.248G>A (p.Arg83Gln)	DEPP1, RASSF4 (R83Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2553617	NM_032023.4(RASSF4):c.133C>T (p.Arg45Cys)	RASSF4 (R45C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521250	NM_032023.4(RASSF4):c.213G>A (p.Met71Ile)	RASSF4 (M71I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520003	NM_032023.4(RASSF4):c.20C>T (p.Pro7Leu)	RASSF4 (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510477	NM_032023.4(RASSF4):c.488G>A (p.Arg163Gln)	RASSF4 (R163Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491151	NM_032023.4(RASSF4):c.289C>T (p.Pro97Ser)	RASSF4 (P97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407492	NM_032023.4(RASSF4):c.551C>A (p.Ala184Asp)	RASSF4 (A184D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406352	NM_032023.4(RASSF4):c.790G>A (p.Val264Met)	RASSF4 (V264M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380643	NM_032023.4(RASSF4):c.214C>G (p.Gln72Glu)	RASSF4 (Q72E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378488	NM_032023.4(RASSF4):c.194G>A (p.Arg65Gln)	RASSF4 (R65Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369959	NM_032023.4(RASSF4):c.505A>G (p.Ile169Val)	RASSF4 (I169V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349679	NM_032023.4(RASSF4):c.773T>C (p.Met258Thr)	RASSF4 (M258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349678	NM_032023.4(RASSF4):c.669C>G (p.Ile223Met)	RASSF4 (I223M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348519	NM_032023.4(RASSF4):c.13T>A (p.Cys5Ser)	RASSF4 (C5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336325	NM_032023.4(RASSF4):c.185G>A (p.Gly62Glu)	RASSF4 (G62E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329585	NM_032023.4(RASSF4):c.223C>T (p.Arg75Trp)	RASSF4 (R75W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321855	NM_032023.4(RASSF4):c.203G>A (p.Arg68Gln)	RASSF4 (R68Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302270	NM_032023.4(RASSF4):c.362C>T (p.Thr121Ile)	RASSF4 (T121I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266150	NM_032023.4(RASSF4):c.584G>A (p.Ser195Asn)	RASSF4 (S195N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229061	NM_032023.4(RASSF4):c.266G>A (p.Arg89Gln)	RASSF4 (R89Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 788427	NM_032023.4(RASSF4):c.474G>C (p.Glu158Asp)	RASSF4 (E158D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786155	NM_032023.4(RASSF4):c.482G>A (p.Arg161His)	RASSF4 (R161H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786154	NM_007021.4(DEPP1):c.301A>G (p.Thr101Ala)	DEPP1, RASSF4 (T101A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 781196	NM_032023.4(RASSF4):c.469G>A (p.Gly157Ser)	RASSF4 (G157S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 780862	NM_032023.4(RASSF4):c.288G>T (p.Glu96Asp)	RASSF4 (E96D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 727419	NM_032023.4(RASSF4):c.21G>A (p.Pro7=)	RASSF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716157	NM_032023.4(RASSF4):c.463G>A (p.Ala155Thr)	RASSF4 (A155T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 624469	GRCh37/hg19 10p11.21-q11.22(chr10:37149872-46169876)x3	ALOX5, ANKRD30A +24 more	Copy number gain	not provided	GLikely pathogenic
Select item 563770	GRCh37/hg19 10q11.21(chr10:44175698-45465655)x1	TMEM72, RASSF4 +1 more	Copy number loss	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 55