RASSF3[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150076	GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1	AVPR1A, C12orf56 +144 more	Copy number loss	See cases	GPathogenic
Select item 3235055	GRCh38/hg38 12q14.2-15(chr12:63871239-67314524)	LOC124629394, LOC124629395 +108 more	Copy number loss	Silver-Russell syndrome 5	GUncertain significance
Select item 152639	GRCh38/hg38 12q14.2(chr12:64566551-64687645)x3	LOC130008206, LOC130008207 +10 more	Copy number gain	See cases	GLikely benign
Select item 3151930	NM_178169.4(RASSF3):c.30G>C (p.Glu10Asp)	LOC130008209, RASSF3 (E10D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397576	NM_178169.4(RASSF3):c.166G>C (p.Glu56Gln)	RASSF3 (E56Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568861	NM_178169.4(RASSF3):c.209A>G (p.Lys70Arg)	RASSF3 (K70R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151928	NM_178169.4(RASSF3):c.277C>G (p.Pro93Ala)	RASSF3 (P93A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151929	NM_178169.4(RASSF3):c.292A>G (p.Asn98Asp)	RASSF3 (N98D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549002	NM_178169.4(RASSF3):c.353C>G (p.Thr118Arg)	RASSF3 (T118R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312975	NM_178169.4(RASSF3):c.364G>A (p.Gly122Arg)	RASSF3 (G122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377728	NM_178169.4(RASSF3):c.376G>A (p.Glu126Lys)	RASSF3 (E126K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270001	NM_178169.4(RASSF3):c.551A>G (p.Glu184Gly)	RASSF3 (E184G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151931	NM_178169.4(RASSF3):c.557A>C (p.Glu186Ala)	RASSF3 (E186A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341713	NM_178169.4(RASSF3):c.616G>C (p.Asp206His)	RASSF3 (D206H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312974	NM_178169.4(RASSF3):c.655C>T (p.Arg219Cys)	RASSF3 (R219C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552468	NM_178169.4(RASSF3):c.662C>G (p.Thr221Arg)	RASSF3 (T221R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368666	NM_178169.4(RASSF3):c.664G>T (p.Ala222Ser)	RASSF3 (A222S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244245	NC_000012.11:g.(?_64173741)_(68052493_?)del	DYRK2, GNS +18 more	Deletion	Mucopolysaccharidosis, MPS-III-D	GPathogenic
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 2425940	NC_000012.11:g.(?_64849651)_(65857102_?)del	GNS, LEMD3 +5 more	Deletion	not provided	GPathogenic
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	BEST3, C12orf56 +34 more	Copy number loss	not provided	GPathogenic
Select item 815532	GRCh37/hg19 12q14.2-14.3(chr12:65029704-65589195)x3	RASSF3, LEMD3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815531	GRCh37/hg19 12q14.2(chr12:65024396-65091401)x1	RASSF3	Copy number loss	not provided	GLikely benign
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 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 27