RNF167[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +141 more	Copy number gain	See cases	GLikely benign
Select item 1679759	Single allele	C17orf107, C17orf114 +68 more	Duplication	7p22.1 microduplication syndrome	GUncertain significance
Select item 642050	NC_000017.10:g.(?_4802011)_(4850135_?)dup	LOC130060040, LOC130060041 +17 more	Duplication	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 153248	GRCh38/hg38 17p13.2(chr17:4915519-5197126)x1	CAMTA2, CAMTA2-AS1 +48 more	Copy number loss	See cases	GLikely pathogenic
Select item 2385533	NM_015528.3(RNF167):c.4C>T (p.His2Tyr)	RNF167 (H2Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791410	NM_015528.3(RNF167):c.38C>T (p.Ala13Val)	RNF167 (A13V)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2323557	NM_015528.3(RNF167):c.64A>C (p.Thr22Pro)	RNF167 (T22P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3314769	NM_015528.3(RNF167):c.98A>G (p.Asn33Ser)	RNF167, LOC130060047 (N33S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314774	NM_015528.3(RNF167):c.140C>G (p.Ala47Gly)	LOC130060047, RNF167 (A12G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155143	NM_015528.3(RNF167):c.157G>A (p.Gly53Ser)	LOC130060047, RNF167 (G53S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769427	NM_015528.3(RNF167):c.165+9C>T	LOC130060047, RNF167	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3314770	NM_015528.3(RNF167):c.214C>T (p.Pro72Ser)	RNF167 (P37S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555110	NM_015528.3(RNF167):c.230C>T (p.Pro77Leu)	RNF167 (P42L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222892	NM_015528.3(RNF167):c.254C>T (p.Ala85Val)	RNF167 (A85V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468221	NM_015528.3(RNF167):c.270C>G (p.Phe90Leu)	RNF167 (F55L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337898	NM_015528.3(RNF167):c.286C>T (p.Leu96Phe)	RNF167 (L96F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1238194	NM_015528.3(RNF167):c.291+7G>A	RNF167	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2370206	NM_015528.3(RNF167):c.320G>A (p.Gly107Asp)	RNF167 (G65D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507666	NM_015528.3(RNF167):c.419T>C (p.Ile140Thr)	RNF167 (I105T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311009	NM_015528.3(RNF167):c.451C>T (p.Leu151Phe)	RNF167 (L151F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461822	NM_015528.3(RNF167):c.476G>A (p.Arg159Gln)	RNF167 (R124Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316002	NM_015528.3(RNF167):c.497A>G (p.Asn166Ser)	RNF167 (N131S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392438	NM_015528.3(RNF167):c.533C>T (p.Thr178Ile)	RNF167 (T143I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365920	NM_015528.3(RNF167):c.562A>G (p.Met188Val)	RNF167 (M153V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295103	NM_015528.3(RNF167):c.583C>T (p.Arg195Cys)	RNF167 (R153C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155144	NM_015528.3(RNF167):c.613C>T (p.Arg205Trp)	RNF167 (R163W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222359	NM_015528.3(RNF167):c.614G>A (p.Arg205Gln)	RNF167 (R205Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349149	NM_015528.3(RNF167):c.724A>G (p.Lys242Glu)	RNF167 (K207E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303805	NM_015528.3(RNF167):c.745G>A (p.Ala249Thr)	RNF167 (A207T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207001	NM_015528.3(RNF167):c.762C>A (p.Ser254Arg)	RNF167 (S254R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385665	NM_015528.3(RNF167):c.793C>T (p.Arg265Trp)	RNF167 (R223W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311122	NM_015528.3(RNF167):c.793C>G (p.Arg265Gly)	RNF167 (R254G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 375600	NM_015528.3(RNF167):c.833dup (p.Pro279fs)	RNF167 (P237fs +5 more)	Duplication (frameshift variant)	Renal carnitine transport defect	GBenign
Select item 3314771	NM_015528.3(RNF167):c.835C>T (p.Pro279Ser)	RNF167 (P303S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314775	NM_015528.3(RNF167):c.880G>A (p.Gly294Ser)	RNF167 (G259S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314772	NM_015528.3(RNF167):c.1030T>C (p.Ser344Pro)	RNF167 (S333P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 1809320	GRCh37/hg19 17p13.2(chr17:4658216-5266343)x3	C17orf107, CAMTA2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1526561	GRCh37/hg19 17p13.2(chr17:4113551-5023913)	ALOX15, ANKFY1 +31 more	Copy number loss	not specified	GUncertain significance
Select item 833374	NC_000017.11:g.(?_4898726)_(4948404_?)del	C17orf107, CHRNE +4 more	Deletion	Congenital myasthenic syndrome 4A	GPathogenic
Select item 831955	NC_000017.11:g.(?_4898726)_(5024161_?)dup	C17orf107, CAMTA2 +9 more	Duplication	Spastic ataxia 2 +1 more	GUncertain significance
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic
Select item 688934	GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1	ALOX15, ANKFY1 +48 more	Copy number loss	not provided	GUncertain significance
Select item 686942	GRCh37/hg19 17p13.2(chr17:4845435-5097302)x3	CAMTA2, ENO3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564394	GRCh37/hg19 17p13.2(chr17:4633847-4926646)x3	INCA1, SLC25A11 +18 more	Copy number gain	not provided	GUncertain significance
Select item 564393	GRCh37/hg19 17p13.2(chr17:4475016-4884701)x3	ARRB2, MINK1 +20 more	Copy number gain	not provided	GUncertain significance
Select item 564392	GRCh37/hg19 17p13.2(chr17:4036861-5174346)x3	CXCL16, SLC52A1 +36 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 441788	GRCh37/hg19 17p13.2(chr17:4633847-4856516)x1	C17orf107, CHRNE +14 more	Copy number loss	See cases	GUncertain significance
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic
Select item 394743	GRCh37/hg19 17p13.2(chr17:4762588-4844009)x3	C17orf107, CHRNE +4 more	Copy number gain	See cases	GUncertain significance

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Items: 68