ClinVar for Gene (Select 11228) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313000	NM_001394098.1(RASSF8):c.394T>G (p.Phe132Val)	RASSF8 (F132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312999	NM_001394098.1(RASSF8):c.652G>T (p.Val218Leu)	RASSF8 (V218L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312997	NM_001394098.1(RASSF8):c.392C>T (p.Thr131Ile)	RASSF8 (T131I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312996	NM_001394098.1(RASSF8):c.333A>C (p.Lys111Asn)	RASSF8 (K111N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312995	NM_001394098.1(RASSF8):c.602A>G (p.Asn201Ser)	RASSF8 (N201S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312994	NM_001394098.1(RASSF8):c.907G>A (p.Asp303Asn)	RASSF8 (D303N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312993	NM_001394098.1(RASSF8):c.420G>T (p.Met140Ile)	RASSF8 (M140I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151976	NM_001394098.1(RASSF8):c.820G>A (p.Ala274Thr)	RASSF8 (A274T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151975	NM_001394098.1(RASSF8):c.512G>A (p.Arg171His)	RASSF8 (R171H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2622660	NM_001394098.1(RASSF8):c.107G>A (p.Arg36Gln)	RASSF8 (R36Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617130	NM_001394098.1(RASSF8):c.508A>G (p.Ile170Val)	RASSF8 (I170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606259	NM_001394098.1(RASSF8):c.805G>A (p.Glu269Lys)	RASSF8 (E269K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604520	NM_001394098.1(RASSF8):c.636G>T (p.Lys212Asn)	RASSF8 (K212N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591798	NM_001394098.1(RASSF8):c.1097A>T (p.Glu366Val)	RASSF8 (E366V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543413	NM_001394098.1(RASSF8):c.260G>A (p.Arg87Gln)	RASSF8 (R87Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537626	NM_001394098.1(RASSF8):c.151A>G (p.Arg51Gly)	RASSF8 (R51G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527964	NM_001394098.1(RASSF8):c.1151A>C (p.Gln384Pro)	RASSF8 (Q384P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480391	NM_001394098.1(RASSF8):c.372A>T (p.Glu124Asp)	RASSF8 (E124D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475534	NM_001394098.1(RASSF8):c.1105G>A (p.Glu369Lys)	RASSF8 (E369K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2376584	NM_001394098.1(RASSF8):c.206A>T (p.Tyr69Phe)	RASSF8 (Y69F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367848	NM_001394098.1(RASSF8):c.1207A>G (p.Ile403Val)	RASSF8 (I403V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350598	NM_001394098.1(RASSF8):c.933G>T (p.Arg311Ser)	RASSF8 (R311S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342471	NM_001394098.1(RASSF8):c.1183C>T (p.Arg395Trp)	RASSF8 (R395W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322764	NM_001394098.1(RASSF8):c.1141G>A (p.Ala381Thr)	RASSF8 (A381T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309162	NM_001394098.1(RASSF8):c.1204C>T (p.Arg402Cys)	RASSF8 (R402C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261279	NM_001394098.1(RASSF8):c.599C>T (p.Ser200Phe)	RASSF8 (S200F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255787	NM_001394098.1(RASSF8):c.266C>T (p.Thr89Ile)	RASSF8 (T89I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226668	NM_001394098.1(RASSF8):c.1084G>A (p.Val362Ile)	RASSF8 (V362I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221591	NM_001394098.1(RASSF8):c.1033C>T (p.Arg345Trp)	RASSF8 (R345W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212642	NM_001394098.1(RASSF8):c.1127A>T (p.Asp376Val)	RASSF8 (D376V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204682	NM_001394098.1(RASSF8):c.476G>T (p.Cys159Phe)	RASSF8 (C159F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527688	GRCh37/hg19 12p12.3-11.23(chr12:17884992-26704895)	ABCC9, AEBP2 +35 more	Copy number gain	not specified	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1340043	GRCh37/hg19 12p12.1-11.22(chr12:23693737-29545102)x1	BCAT1, BHLHE41 +27 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 734753	NM_001394098.1(RASSF8):c.623G>A (p.Arg208His)	RASSF8 (R208H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 731240	NM_001394098.1(RASSF8):c.836G>A (p.Arg279Gln)	RASSF8 (R279Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713622	NM_001394098.1(RASSF8):c.607G>C (p.Glu203Gln)	RASSF8 (E203Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 689124	GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1	SMCO2, SOX5 +48 more	Copy number loss	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 395235	GRCh37/hg19 12p12.3-11.23(chr12:18037107-26681362)x3	ABCC9, AEBP2 +35 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +179 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 65