256472[geneid] - ClinVar

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Items: 63

	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 644273	NC_000011.9:g.(?_65633902)_(66115026_?)dup	B4GAT1, BRMS1 +72 more	Duplication	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 2372337	NM_153266.4(TMEM151A):c.10G>A (p.Asp4Asn)	TMEM151A (D4N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038520	NM_153266.4(TMEM151A):c.20G>A (p.Gly7Asp)	TMEM151A (G7D)	Single nucleotide variant (missense variant)	TMEM151A-related disorder	GLikely benign
Select item 3326821	NM_153266.4(TMEM151A):c.50C>G (p.Pro17Arg)	TMEM151A (P17R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2698371	NM_153266.4(TMEM151A):c.140T>C (p.Leu47Pro)	TMEM151A (L47P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443877	NM_153266.4(TMEM151A):c.166G>C (p.Gly56Arg)	TMEM151A	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia 3	GPathogenic
Select item 2322421	NM_153266.4(TMEM151A):c.172G>A (p.Val58Met)	TMEM151A (V58M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455334	NM_153266.4(TMEM151A):c.194C>T (p.Ala65Val)	TMEM151A (A65V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388571	NM_153266.4(TMEM151A):c.247G>A (p.Gly83Arg)	TMEM151A (G83R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332085	NM_153266.4(TMEM151A):c.251G>A (p.Gly84Asp)	TMEM151A (G84D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483903	NM_153266.4(TMEM151A):c.265T>C (p.Tyr89His)	TMEM151A (Y89H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3348615	NM_153266.4(TMEM151A):c.305del (p.Pro102fs)	TMEM151A (P102fs)	Deletion (frameshift variant)	TMEM151A-related disorder	GLikely pathogenic
Select item 2443874	NM_153266.4(TMEM151A):c.375C>A (p.Cys125Ter)	TMEM151A	Single nucleotide variant (nonsense)	Episodic kinesigenic dyskinesia 3	GPathogenic
Select item 2403267	NM_153266.4(TMEM151A):c.410C>A (p.Ala137Glu)	TMEM151A (A137E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3178876	NM_153266.4(TMEM151A):c.475G>A (p.Val159Met)	TMEM151A (V159M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3326820	NM_153266.4(TMEM151A):c.482G>A (p.Arg161His)	TMEM151A (R161H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475043	NM_153266.4(TMEM151A):c.511G>A (p.Gly171Ser)	TMEM151A (G171S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582673	NM_153266.4(TMEM151A):c.606_607insA (p.Val203fs)	TMEM151A (V203fs)	Insertion (frameshift variant)	Episodic kinesigenic dyskinesia 3	GPathogenic
Select item 2534678	NM_153266.4(TMEM151A):c.636G>C (p.Glu212Asp)	TMEM151A (E212D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2373813	NM_153266.4(TMEM151A):c.722G>A (p.Arg241His)	TMEM151A (R241H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443873	NM_153266.4(TMEM151A):c.758T>C (p.Leu253Pro)	TMEM151A	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia 3	GPathogenic
Select item 3178877	NM_153266.4(TMEM151A):c.773G>A (p.Gly258Asp)	TMEM151A (G258D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582674	NM_153266.4(TMEM151A):c.791T>C (p.Val264Ala)	TMEM151A	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia 3	GPathogenic
Select item 3178878	NM_153266.4(TMEM151A):c.811A>C (p.Met271Leu)	TMEM151A (M271L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444288	NM_153266.4(TMEM151A):c.815T>C (p.Val272Ala)	TMEM151A (V272A)	Single nucleotide variant (missense variant)	TMEM151A-related disorder	GUncertain significance
Select item 2456772	NM_153266.4(TMEM151A):c.820G>A (p.Ala274Thr)	TMEM151A (A274T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443876	NM_153266.4(TMEM151A):c.897_912del (p.Leu300fs)	TMEM151A (L300fs)	Deletion (frameshift variant)	Episodic kinesigenic dyskinesia 3	GPathogenic
Select item 2559729	NM_153266.4(TMEM151A):c.911C>A (p.Ala304Asp)	TMEM151A (A304D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474129	NM_153266.4(TMEM151A):c.973C>G (p.Pro325Ala)	TMEM151A (P325A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466194	NM_153266.4(TMEM151A):c.973C>T (p.Pro325Ser)	TMEM151A (P325S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3178880	NM_153266.4(TMEM151A):c.997C>G (p.Pro333Ala)	TMEM151A (P333A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588226	NM_153266.4(TMEM151A):c.997C>A (p.Pro333Thr)	TMEM151A (P333T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443875	NM_153266.4(TMEM151A):c.1043G>A (p.Trp348Ter)	TMEM151A	Single nucleotide variant (nonsense)	Episodic kinesigenic dyskinesia 3	GPathogenic
Select item 2443878	NM_153266.4(TMEM151A):c.1085A>G (p.Glu362Gly)	TMEM151A	Single nucleotide variant (missense variant)	Episodic kinesigenic dyskinesia 3	GPathogenic
Select item 2317292	NM_153266.4(TMEM151A):c.1117T>C (p.Tyr373His)	TMEM151A (Y373H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534677	NM_153266.4(TMEM151A):c.1125A>C (p.Arg375Ser)	TMEM151A (R375S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3326819	NM_153266.4(TMEM151A):c.1127G>A (p.Gly376Asp)	TMEM151A (G376D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476214	NM_153266.4(TMEM151A):c.1163C>T (p.Ser388Leu)	TMEM151A (S388L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229621	NM_153266.4(TMEM151A):c.1168C>T (p.Pro390Ser)	TMEM151A (P390S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548667	NM_153266.4(TMEM151A):c.1169C>A (p.Pro390His)	TMEM151A (P390H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477948	NM_153266.4(TMEM151A):c.1180C>T (p.Pro394Ser)	TMEM151A (P394S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3326822	NM_153266.4(TMEM151A):c.1238G>A (p.Arg413Gln)	TMEM151A (R413Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3178875	NM_153266.4(TMEM151A):c.1247C>T (p.Pro416Leu)	TMEM151A (P416L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443872	NM_153266.4(TMEM151A):c.1275dup (p.Pro426fs)	TMEM151A (P426fs)	Duplication (frameshift variant)	Episodic kinesigenic dyskinesia 3	GPathogenic
Select item 2243181	NM_153266.4(TMEM151A):c.1277C>A (p.Pro426Gln)	TMEM151A (P426Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601284	NM_153266.4(TMEM151A):c.1303G>A (p.Glu435Lys)	TMEM151A (E435K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310821	NM_153266.4(TMEM151A):c.1366G>C (p.Gly456Arg)	TMEM151A (G456R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
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 563824	GRCh37/hg19 11q13.2(chr11:65906060-66086140)x1	YIF1A, CD248 +5 more	Copy number loss	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

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Items: 63