ClinVar for Gene (Select 9973) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264656	NM_005125.2(CCS):c.107T>G (p.Val36Gly)	CCS (V36G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140123	NM_005125.2(CCS):c.89G>A (p.Arg30His)	CCS (R30H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140122	NM_005125.2(CCS):c.700G>A (p.Ala234Thr)	CCS (A234T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140120	NM_005125.2(CCS):c.557A>G (p.Glu186Gly)	CCS (E186G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140119	NM_005125.2(CCS):c.488G>T (p.Arg163Leu)	CCS (R163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140118	NM_005125.2(CCS):c.206C>T (p.Thr69Met)	CCS (T69M)	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 3057199	NM_005125.2(CCS):c.804G>A (p.Ala268=)	CCS	Single nucleotide variant (synonymous variant)	CCS-related disorder	GBenign
Select item 3041567	NM_005125.2(CCS):c.279G>T (p.Leu93=)	CCS	Single nucleotide variant (synonymous variant)	CCS-related disorder	GLikely benign
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 2624317	NM_005125.2(CCS):c.778G>T (p.Ala260Ser)	CCS (A260S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620959	NM_005125.2(CCS):c.642A>C (p.Leu214Phe)	CCS (L214F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620523	NM_005125.2(CCS):c.716A>G (p.Asn239Ser)	CCS (N239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556322	NM_005125.2(CCS):c.683G>C (p.Gly228Ala)	CCS (G228A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549929	NM_005125.2(CCS):c.626G>A (p.Arg209Gln)	CCS (R209Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468916	NM_005125.2(CCS):c.410T>C (p.Leu137Pro)	CCS (L137P)	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 2410738	NM_005125.2(CCS):c.449C>T (p.Pro150Leu)	CCS (P150L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402173	NM_005125.2(CCS):c.775A>G (p.Ile259Val)	CCS (I259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378913	NM_005125.2(CCS):c.307G>C (p.Val103Leu)	CCS (V103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369922	NM_005125.2(CCS):c.788G>C (p.Gly263Ala)	CCS (G263A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297154	NM_005125.2(CCS):c.349G>A (p.Gly117Arg)	CCS (G117R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271573	NM_005125.2(CCS):c.211C>T (p.Arg71Trp)	CCS (R71W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216467	NM_005125.2(CCS):c.535G>A (p.Ala179Thr)	CCS (A179T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212604	NM_005125.2(CCS):c.778G>A (p.Ala260Thr)	CCS (A260T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879220	GRCh37/hg19 11q13.2(chr11:66178392-66433436)x3	ACTN3, BBS1 +12 more	Copy number gain	not provided	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 1678341	NM_005125.2(CCS):c.567+1G>C	CCS	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1527645	GRCh37/hg19 11q13.2(chr11:66188172-66402747)	ACTN3, BBS1 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1340579	GRCh37/hg19 11q13.2(chr11:65963737-66581485)x1	ACTN3, B4GAT1 +25 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
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
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 37040	NM_005125.2(CCS):c.487C>T (p.Arg163Trp)	CCS (R163W)	Single nucleotide variant (missense variant)	Neurodegeneration	GUncertain significance

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Links from Gene

Items: 40