RTF1[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2457680	NM_015138.5(RTF1):c.29C>T (p.Ala10Val)	LOC130056893, RTF1 (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156826	NM_015138.5(RTF1):c.70G>T (p.Gly24Trp)	LOC130056893, RTF1 (G24W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306098	NM_015138.5(RTF1):c.74A>G (p.Gln25Arg)	LOC130056893, RTF1 (Q25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204655	NM_015138.5(RTF1):c.82A>G (p.Ser28Gly)	LOC130056893, RTF1 (S28G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569511	NM_015138.5(RTF1):c.95G>T (p.Gly32Val)	LOC130056893, RTF1 (G32V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364461	NM_015138.5(RTF1):c.97C>T (p.Arg33Trp)	LOC130056893, RTF1 (R33W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156819	NM_015138.5(RTF1):c.110G>T (p.Arg37Leu)	LOC130056893, RTF1 (R37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156820	NM_015138.5(RTF1):c.145G>A (p.Val49Ile)	LOC130056893, RTF1 (V49I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156822	NM_015138.5(RTF1):c.184G>C (p.Glu62Gln)	LOC130056893, RTF1 (E62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156825	NM_015138.5(RTF1):c.377T>C (p.Met126Thr)	RTF1 (M126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307349	NM_015138.5(RTF1):c.800G>A (p.Arg267Gln)	RTF1 (R267Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598185	NM_015138.5(RTF1):c.812G>A (p.Arg271Gln)	RTF1 (R271Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587944	NM_015138.5(RTF1):c.998G>A (p.Arg333Gln)	RTF1 (R333Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490812	NM_015138.5(RTF1):c.1123A>G (p.Met375Val)	RTF1 (M375V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315629	NM_015138.5(RTF1):c.1414A>C (p.Ile472Leu)	RTF1 (I472L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156821	NM_015138.5(RTF1):c.1502G>A (p.Arg501Lys)	RTF1 (R501K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156823	NM_015138.5(RTF1):c.1888C>T (p.Pro630Ser)	RTF1 (P630S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476208	NM_015138.5(RTF1):c.1889C>T (p.Pro630Leu)	RTF1 (P630L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616830	NM_015138.5(RTF1):c.1942T>A (p.Ser648Thr)	RTF1 (S648T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156824	NM_015138.5(RTF1):c.1954A>G (p.Ser652Gly)	RTF1 (S652G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285409	NM_015138.5(RTF1):c.2013A>C (p.Gln671His)	RTF1 (Q671H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243779	NC_000015.9:g.(?_38545387)_(42105565_?)dup	ANKRD63, BAHD1 +49 more	Duplication	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic

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Items: 32