RHOD[gene] - ClinVar

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

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic
Select item 59758	GRCh38/hg38 11q13.2(chr11:67016543-67256428)x3	KDM2A, LOC107984341 +27 more	Copy number gain	See cases	GPathogenic
Select item 3314220	NM_014578.4(RHOD):c.53T>C (p.Val18Ala)	LOC130006154, RHOD (V18A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331741	NM_014578.4(RHOD):c.128C>G (p.Pro43Arg)	RHOD (P43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228006	NM_014578.4(RHOD):c.146C>T (p.Thr49Met)	RHOD (T49M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154077	NM_014578.4(RHOD):c.271G>A (p.Val91Ile)	RHOD (V91I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266409	NM_014578.4(RHOD):c.289G>A (p.Asp97Asn)	RHOD (D97N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231137	NM_014578.4(RHOD):c.311T>G (p.Phe104Cys)	RHOD (F104C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304064	NM_014578.4(RHOD):c.353T>C (p.Phe118Ser)	RHOD (F118S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507788	NM_014578.4(RHOD):c.503A>G (p.Tyr168Cys)	RHOD (Y168C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788600	NM_014578.4(RHOD):c.561C>T (p.Ala187=)	RHOD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2465024	NM_014578.4(RHOD):c.622G>A (p.Val208Met)	RHOD (V142M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
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 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	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 1527646	GRCh37/hg19 11q13.2(chr11:66673078-66942028)	C11orf86, KDM2A +3 more	Copy number gain	not specified	GUncertain significance
Select item 1339909	GRCh37/hg19 11q13.2(chr11:66760918-67015469)x3	KDM2A, RHOD +1 more	Copy number gain	not provided	Gnot provided
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815437	GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3	ALDH3B2, ACY3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 815436	GRCh37/hg19 11q13.2(chr11:66760918-67015469)x3	RHOD, SYT12 +1 more	Copy number gain	not provided	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 563841	GRCh37/hg19 11q13.2(chr11:66662614-66975223)x3	C11orf86, SYT12 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
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
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	ACTN3, ACY3 +57 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29