RNF169[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 155201	GRCh38/hg38 11q13.4(chr11:74648822-74907890)x1	CHRDL2, LOC108281147 +7 more	Copy number loss	See cases	GUncertain significance
Select item 2542462	NM_001098638.2(RNF169):c.34T>G (p.Ser12Ala)	RNF169 (S12A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219613	NM_001098638.2(RNF169):c.38C>T (p.Ala13Val)	RNF169 (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314778	NM_001098638.2(RNF169):c.41C>T (p.Ala14Val)	RNF169 (A14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155165	NM_001098638.2(RNF169):c.52G>T (p.Ala18Ser)	RNF169 (A18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596363	NM_001098638.2(RNF169):c.152C>T (p.Ser51Leu)	RNF169 (S51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335762	NM_001098638.2(RNF169):c.219G>C (p.Glu73Asp)	RNF169 (E73D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155160	NM_001098638.2(RNF169):c.220C>T (p.Pro74Ser)	RNF169 (P74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314783	NM_001098638.2(RNF169):c.266G>C (p.Arg89Pro)	RNF169 (R89P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283189	NM_001098638.2(RNF169):c.266G>A (p.Arg89Gln)	RNF169 (R89Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377071	NM_001098638.2(RNF169):c.279A>T (p.Gln93His)	RNF169 (Q93H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155161	NM_001098638.2(RNF169):c.343C>T (p.Arg115Cys)	RNF169 (R115C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314784	NM_001098638.2(RNF169):c.344G>A (p.Arg115His)	RNF169 (R115H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347501	NM_001098638.2(RNF169):c.356G>A (p.Arg119His)	RNF169 (R119H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598671	NM_001098638.2(RNF169):c.369G>C (p.Gln123His)	RNF169 (Q123H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155162	NM_001098638.2(RNF169):c.401G>T (p.Arg134Leu)	RNF169 (R134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155163	NM_001098638.2(RNF169):c.439G>C (p.Gly147Arg)	RNF169 (G147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314782	NM_001098638.2(RNF169):c.458G>T (p.Gly153Val)	RNF169 (G153V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155164	NM_001098638.2(RNF169):c.473A>T (p.Gln158Leu)	RNF169 (Q158L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382174	NM_001098638.2(RNF169):c.490C>T (p.Pro164Ser)	RNF169 (P164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155166	NM_001098638.2(RNF169):c.554A>G (p.Glu185Gly)	RNF169 (E185G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355964	NM_001098638.2(RNF169):c.556G>A (p.Glu186Lys)	RNF169 (E186K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155167	NM_001098638.2(RNF169):c.557A>G (p.Glu186Gly)	RNF169 (E186G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397103	NM_001098638.2(RNF169):c.721C>T (p.Arg241Cys)	RNF169 (R241C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155168	NM_001098638.2(RNF169):c.722G>A (p.Arg241His)	RNF169 (R241H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2368454	NM_001098638.2(RNF169):c.731C>T (p.Ala244Val)	RNF169 (A244V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494987	NM_001098638.2(RNF169):c.791G>T (p.Arg264Leu)	RNF169 (R264L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235278	NM_001098638.2(RNF169):c.919G>A (p.Ala307Thr)	RNF169 (A307T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360908	NM_001098638.2(RNF169):c.1006C>T (p.Arg336Cys)	RNF169 (R336C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155155	NM_001098638.2(RNF169):c.1012G>A (p.Val338Ile)	RNF169 (V338I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387452	NM_001098638.2(RNF169):c.1012G>T (p.Val338Phe)	RNF169 (V338F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155156	NM_001098638.2(RNF169):c.1021C>A (p.Pro341Thr)	RNF169 (P341T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296312	NM_001098638.2(RNF169):c.1042C>T (p.Arg348Cys)	RNF169 (R348C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155157	NM_001098638.2(RNF169):c.1223A>G (p.Lys408Arg)	RNF169 (K408R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314781	NM_001098638.2(RNF169):c.1234C>T (p.Arg412Cys)	RNF169 (R412C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155158	NM_001098638.2(RNF169):c.1292T>C (p.Leu431Pro)	RNF169 (L431P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556026	NM_001098638.2(RNF169):c.1306C>A (p.Gln436Lys)	RNF169 (Q436K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314780	NM_001098638.2(RNF169):c.1360T>G (p.Ser454Ala)	RNF169 (S454A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248478	NM_001098638.2(RNF169):c.1400A>G (p.Glu467Gly)	RNF169 (E467G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155159	NM_001098638.2(RNF169):c.1436C>T (p.Ala479Val)	RNF169 (A479V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345277	NM_001098638.2(RNF169):c.1604A>G (p.Lys535Arg)	RNF169 (K535R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2550300	NM_001098638.2(RNF169):c.1625C>G (p.Ser542Cys)	RNF169 (S542C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390991	NM_001098638.2(RNF169):c.1630G>A (p.Glu544Lys)	RNF169 (E544K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378541	NM_001098638.2(RNF169):c.1822G>A (p.Glu608Lys)	RNF169 (E608K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491231	NM_001098638.2(RNF169):c.1855C>T (p.Arg619Cys)	RNF169 (R619C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214480	NM_001098638.2(RNF169):c.1907C>G (p.Ser636Cys)	RNF169 (S636C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473502	NM_001098638.2(RNF169):c.1933G>A (p.Gly645Arg)	RNF169 (G645R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386711	NM_001098638.2(RNF169):c.2075G>A (p.Gly692Glu)	RNF169 (G692E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 57