ClinVar for Gene (Select 11186) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370459	NM_015896.4(ZMYND10):c.1024G>T (p.Glu342Ter)	RASSF1, RASSF1-AS1 +2 more (E337* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 22	GLikely pathogenic
Select item 3312964	NM_007182.5(RASSF1):c.364C>A (p.Pro122Thr)	RASSF1 (P126T +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3312963	NM_007182.5(RASSF1):c.748C>T (p.Arg250Cys)	RASSF1 (R180C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312962	NM_007182.5(RASSF1):c.719G>A (p.Arg240His)	RASSF1 (R240H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312961	NM_007182.5(RASSF1):c.949C>T (p.Arg317Cys)	RASSF1 (R166C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151912	NM_007182.5(RASSF1):c.526G>A (p.Val176Met)	RASSF1 (V106M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151911	NM_007182.5(RASSF1):c.1005C>G (p.His335Gln)	RASSF1 (H184Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653857	NM_007182.5(RASSF1):c.357+630C>T	RASSF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2605066	NM_007182.5(RASSF1):c.980G>A (p.Arg327His)	RASSF1 (R176H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570162	NM_007182.5(RASSF1):c.572G>A (p.Gly191Asp)	RASSF1 (G121D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542713	NM_007182.5(RASSF1):c.74G>A (p.Arg25Gln)	RASSF1 (R25Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2509378	NM_007182.5(RASSF1):c.566G>A (p.Arg189Gln)	RASSF1 (R38Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474417	NM_007182.5(RASSF1):c.677T>C (p.Ile226Thr)	RASSF1 (I75T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426218	NC_000003.11:g.(?_49866536)_(50540854_?)dup	CACNA2D2, CAMKV +23 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 2401556	NM_007182.5(RASSF1):c.883G>A (p.Ala295Thr)	RASSF1 (A225T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366785	NM_007182.5(RASSF1):c.799C>T (p.Arg267Trp)	RASSF1 (R116W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281056	NM_007182.5(RASSF1):c.182C>G (p.Thr61Arg)	RASSF1 (T61R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2271086	NM_007182.5(RASSF1):c.699C>G (p.Phe233Leu)	RASSF1 (F237L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253188	NM_007182.5(RASSF1):c.1001T>C (p.Leu334Pro)	RASSF1 (L264P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234003	NM_007182.5(RASSF1):c.692G>A (p.Arg231Gln)	RASSF1 (R231Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218110	NM_007182.5(RASSF1):c.784G>C (p.Asp262His)	RASSF1 (D111H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210865	NM_007182.5(RASSF1):c.740G>A (p.Arg247His)	RASSF1 (R247H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808347	GRCh37/hg19 3p21.31(chr3:50364292-50492932)x1	CACNA2D2, CYB561D2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1456135	NC_000003.11:g.(?_49547968)_(50685477_?)del	AMIGO3, APEH +38 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 more	Copy number loss	not provided	GPathogenic
Select item 786011	NM_007182.5(RASSF1):c.753C>T (p.His251=)	RASSF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 728222	NM_007182.5(RASSF1):c.483A>G (p.Thr161=)	RASSF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 221434	GRCh37/hg19 3p21.31(chr3:50273827-50403519)x3	CACNA2D2, CYB561D2 +13 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 33