RNF181[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 2229736	NM_016494.4(RNF181):c.19G>C (p.Glu7Gln)	RNF181 (E7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593553	NM_016494.4(RNF181):c.34C>A (p.Pro12Thr)	RNF181 (P12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314801	NM_016494.4(RNF181):c.35C>T (p.Pro12Leu)	RNF181 (P12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155211	NM_016494.4(RNF181):c.82G>T (p.Ala28Ser)	RNF181 (A28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155208	NM_016494.4(RNF181):c.105G>A (p.Met35Ile)	RNF181 (M35I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155209	NM_016494.4(RNF181):c.277C>G (p.Pro93Ala)	RNF181 (P93A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514866	NM_016494.4(RNF181):c.353A>G (p.Tyr118Cys)	RNF181 (Y118C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518281	NM_016494.4(RNF181):c.358C>A (p.Leu120Met)	RNF181 (L120M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155210	NM_016494.4(RNF181):c.392G>A (p.Arg131Lys)	RNF181 (R131K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3314800	NM_016494.4(RNF181):c.416A>G (p.Gln139Arg)	RNF181 (Q139R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524605	NM_016494.4(RNF181):c.428G>A (p.Arg143Gln)	RNF181 (R143Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750792	NM_016494.4(RNF181):c.448del (p.Ala150fs)	RNF181 (A150fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2426780	NC_000002.11:g.(?_85766411)_(86564633_?)del	ATOH8, C2orf68 +15 more	Deletion	Hereditary spastic paraplegia 31	GPathogenic
Select item 1809304	GRCh37/hg19 2p11.2(chr2:85786007-86559358)x3	ATOH8, C2orf68 +14 more	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526840	GRCh37/hg19 2p12-11.2(chr2:82486900-87322042)	ATOH8, C2orf68 +35 more	Copy number loss	not specified	GPathogenic
Select item 1180533	GRCh37/hg19 2p12-11.2(chr2:81209244-86688030)x1	ELMOD3, GGCX +27 more	Copy number loss	not provided	GPathogenic
Select item 980433	GRCh37/hg19 2p11.2(chr2:85786006-86559358)x3	GGCX, VAMP5 +14 more	Copy number gain	not provided	GUncertain significance
Select item 685879	GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1	ATOH8, C2orf68 +41 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 562661	GRCh37/hg19 2p12-11.2(chr2:82517612-86262705)x3	MAT2A, TCF7L1 +22 more	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 221379	GRCh37/hg19 2p11.2(chr2:85598271-85843453)x3	C2orf68, CAPG +9 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 30