ClinVar for Gene (Select 166824) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312987	NM_177532.5(RASSF6):c.-11A>C	RASSF6 (K29T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3312986	NM_177532.5(RASSF6):c.257T>G (p.Met86Arg)	RASSF6 (M74R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312985	NM_177532.5(RASSF6):c.613G>A (p.Val205Ile)	RASSF6 (V237I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3151958	NM_177532.5(RASSF6):c.863A>T (p.His288Leu)	RASSF6 (H254L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151957	NM_177532.5(RASSF6):c.799A>G (p.Ile267Val)	RASSF6 (I255V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151956	NM_177532.5(RASSF6):c.719G>A (p.Gly240Glu)	RASSF6 (G206E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151955	NM_177532.5(RASSF6):c.522A>T (p.Arg174Ser)	RASSF6 (R162S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151954	NM_201431.2(RASSF6):c.59A>G (p.Tyr20Cys)	RASSF6 (Y20C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151953	NM_201431.2(RASSF6):c.46T>C (p.Ser16Pro)	RASSF6 (S16P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151952	NM_177532.5(RASSF6):c.340A>G (p.Arg114Gly)	RASSF6 (R114G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151950	NM_201431.2(RASSF6):c.32C>A (p.Ala11Glu)	RASSF6 (A11E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3151948	NM_177532.5(RASSF6):c.135A>T (p.Leu45Phe)	RASSF6 (L77F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151947	NM_177532.5(RASSF6):c.13G>T (p.Ala5Ser)	RASSF6 (A37S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151946	NM_177532.5(RASSF6):c.955G>A (p.Ala319Thr)	RASSF6 (A307T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685114	GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1	ADAMTS3, AFM +58 more	Copy number loss	not provided	GPathogenic
Select item 2617129	NM_201431.2(RASSF6):c.38C>G (p.Ala13Gly)	RASSF6 (A13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592182	NM_177532.5(RASSF6):c.797G>A (p.Arg266His)	RASSF6 (R298H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536905	NM_177532.5(RASSF6):c.329G>C (p.Ser110Thr)	RASSF6 (S110T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495272	NM_177532.5(RASSF6):c.460A>G (p.Met154Val)	RASSF6 (M154V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459418	NM_177532.5(RASSF6):c.956C>T (p.Ala319Val)	RASSF6 (A307V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405200	NM_177532.5(RASSF6):c.295C>T (p.Arg99Cys)	RASSF6 (R131C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401220	NM_177532.5(RASSF6):c.296G>A (p.Arg99His)	RASSF6 (R87H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394171	NM_177532.5(RASSF6):c.313G>C (p.Asp105His)	RASSF6 (D137H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375471	NM_177532.5(RASSF6):c.305A>T (p.Glu102Val)	RASSF6 (E90V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362552	NM_177532.5(RASSF6):c.797G>T (p.Arg266Leu)	RASSF6 (R254L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358289	NM_177532.5(RASSF6):c.-20A>T	RASSF6 (H26L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2323505	NM_177532.5(RASSF6):c.405C>A (p.Asn135Lys)	RASSF6 (N167K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322871	NM_177532.5(RASSF6):c.149A>G (p.Glu50Gly)	RASSF6 (E38G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299454	NM_177532.5(RASSF6):c.127C>T (p.His43Tyr)	RASSF6 (H43Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282245	NM_177532.5(RASSF6):c.277T>C (p.Ser93Pro)	RASSF6 (S93P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269272	NM_177532.5(RASSF6):c.59T>C (p.Ile20Thr)	RASSF6 (I20T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248657	NM_177532.5(RASSF6):c.841G>A (p.Val281Met)	RASSF6 (V281M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240124	NM_177532.5(RASSF6):c.-12A>G	RASSF6 (K29E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2236675	NM_201431.2(RASSF6):c.44C>T (p.Ala15Val)	RASSF6 (A15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232467	NM_177532.5(RASSF6):c.57C>G (p.Phe19Leu)	RASSF6 (F19L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211078	NM_177532.5(RASSF6):c.242C>T (p.Ser81Phe)	RASSF6 (S113F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684642	NC_000004.12:g.67833055_82716065del	LINC01088, LINC01094 +330 more	Deletion	See cases	GPathogenic
Select item 1527095	GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	CXCL5, CXCL6 +51 more	Copy number loss	not specified	GPathogenic
Select item 1527090	GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517)	ADAMTS3, ADGRL3 +58 more	Copy number loss	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 929334	GRCh37/hg19 4q13.3(chr4:74275515-74688555)x3	AFM, AFP +3 more	Copy number gain	See cases	GUncertain significance
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 727257	NM_177532.5(RASSF6):c.8T>C (p.Met3Thr)	RASSF6 (M3T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 727256	NM_177532.5(RASSF6):c.870T>A (p.Ser290=)	RASSF6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685523	GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1	ADAMTS3, AFM +51 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562931	GRCh37/hg19 4q13.3(chr4:73952783-75261407)x3	CXCL1, EPGN +15 more	Copy number gain	not provided	GUncertain significance
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 57863	GRCh38/hg38 4q13.3(chr4:73510905-73978175)x3	CXCL1, CXCL6 +14 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 61