ClinVar for Gene (Select 29984) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
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 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 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	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 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 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 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 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 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	ACER3, ACP2 +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 788600	NM_014578.4(RHOD):c.561C>T (p.Ala187=)	RHOD	Single nucleotide variant (synonymous variant)	not provided	GBenign
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)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	GRK2, LRFN4 +57 more	Copy number gain	See cases	GUncertain significance
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	LOC130006205, LOC130006206 +282 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 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	RIN1, RPS6KB2 +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

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Links from Gene

Items: 28