ClinVar for Gene (Select 285671) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314798	NM_001113561.2(RNF180):c.1003C>G (p.Leu335Val)	RNF180 (L335V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314797	NM_001113561.2(RNF180):c.40C>A (p.Gln14Lys)	RNF180 (Q14K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314796	NM_001113561.2(RNF180):c.746A>G (p.His249Arg)	RNF180 (H249R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155207	NM_001113561.2(RNF180):c.941T>C (p.Leu314Pro)	RNF180 (L314P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155206	NM_001113561.2(RNF180):c.833A>G (p.Tyr278Cys)	RNF180 (Y278C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3155205	NM_001113561.2(RNF180):c.560G>A (p.Arg187Gln)	RNF180 (R187Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155204	NM_001113561.2(RNF180):c.521A>G (p.Asp174Gly)	RNF180 (D174G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3155202	NM_001113561.2(RNF180):c.196G>A (p.Ala66Thr)	RNF180 (A66T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155201	NM_001113561.2(RNF180):c.1772C>T (p.Pro591Leu)	RNF180 (P591L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155200	NM_001113561.2(RNF180):c.1763T>G (p.Phe588Cys)	RNF180 (F588C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155199	NM_001113561.2(RNF180):c.1391A>G (p.Asn464Ser)	RNF180 (N464S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155198	NM_001113561.2(RNF180):c.1169G>A (p.Arg390His)	RNF180 (R390H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2671624	Single allele	ADAMTS6, CD180 +16 more	Deletion	not provided	GUncertain significance
Select item 2621470	NM_001113561.2(RNF180):c.1064T>C (p.Leu355Pro)	RNF180 (L355P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617838	NM_001113561.2(RNF180):c.831C>G (p.Ser277Arg)	RNF180 (S277R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599725	NM_001113561.2(RNF180):c.311A>C (p.Lys104Thr)	RNF180 (K104T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552949	NM_001113561.2(RNF180):c.1279A>G (p.Lys427Glu)	RNF180 (K427E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549270	NM_001113561.2(RNF180):c.1437A>T (p.Arg479Ser)	RNF180 (R479S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542968	NM_001113561.2(RNF180):c.930T>A (p.Phe310Leu)	RNF180 (F310L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521008	NM_001113561.2(RNF180):c.1508A>G (p.Gln503Arg)	RNF180 (Q503R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496366	NM_001113561.2(RNF180):c.1242G>C (p.Glu414Asp)	RNF180 (E414D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458404	NM_001113561.2(RNF180):c.109G>A (p.Glu37Lys)	RNF180 (E37K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2412255	NM_001113561.2(RNF180):c.124C>G (p.Gln42Glu)	RNF180 (Q42E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392687	NM_001113561.2(RNF180):c.982A>G (p.Asn328Asp)	RNF180 (N328D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390013	NM_001113561.2(RNF180):c.278G>A (p.Arg93His)	RNF180 (R93H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388264	NM_001113561.2(RNF180):c.509G>A (p.Arg170Gln)	RNF180 (R170Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2369044	NM_001113561.2(RNF180):c.1242G>T (p.Glu414Asp)	RNF180 (E414D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363421	NM_001113561.2(RNF180):c.593T>C (p.Leu198Pro)	RNF180 (L198P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323767	NM_001113561.2(RNF180):c.820A>G (p.Ser274Gly)	RNF180 (S274G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297815	NM_001113561.2(RNF180):c.970A>G (p.Thr324Ala)	RNF180 (T324A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2297215	NM_001113561.2(RNF180):c.579G>A (p.Met193Ile)	RNF180 (M193I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271308	NM_001113561.2(RNF180):c.1544T>A (p.Leu515Gln)	RNF180 (L515Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268584	NM_001113561.2(RNF180):c.1274A>C (p.Glu425Ala)	RNF180 (E425A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261557	NM_001113561.2(RNF180):c.1585C>T (p.Arg529Cys)	RNF180 (R529C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232764	NM_001113561.2(RNF180):c.790A>T (p.Ile264Phe)	RNF180 (I264F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205823	NM_001113561.2(RNF180):c.460A>G (p.Thr154Ala)	RNF180 (T154A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1456117	NC_000005.9:g.(?_63256278)_(65374358_?)del	ADAMTS6, CENPK +12 more	Deletion	not provided	GPathogenic
Select item 814691	GRCh37/hg19 5q12.3(chr5:63636358-63779238)x1	RNF180	Copy number loss	not provided	GUncertain significance
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LINC02219, LINC02229 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563074	GRCh37/hg19 5q12.3(chr5:63263538-63618972)x1	RNF180	Copy number loss	not provided	GLikely benign
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442344	GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4	ADAMTS6, CCDC125 +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 153515	GRCh38/hg38 5q12.2-12.3(chr5:63826033-64429460)x3	HTR1A, LOC121079939 +1 more	Copy number gain	See cases	GUncertain significance
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146649	GRCh38/hg38 5q12.3(chr5:64344867-64370545)x1	RNF180	Copy number loss	See cases	GBenign
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 49