SIPA1[gene] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152640	GRCh38/hg38 11q13.1(chr11:65520831-65695349)x3	EHBP1L1, FAM89B +45 more	Copy number gain	See cases	GUncertain significance
Select item 2301205	NM_006747.4(SIPA1):c.10T>C (p.Trp4Arg)	SIPA1 (W4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296228	NM_006747.4(SIPA1):c.16G>A (p.Gly6Ser)	SIPA1 (G6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280640	NM_006747.4(SIPA1):c.25G>T (p.Gly9Trp)	SIPA1 (G9W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495785	NM_006747.4(SIPA1):c.35G>A (p.Arg12Gln)	SIPA1 (R12Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162367	NM_006747.4(SIPA1):c.67C>T (p.Leu23Phe)	SIPA1 (L23F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162348	NM_006747.4(SIPA1):c.112C>T (p.Pro38Ser)	SIPA1 (P38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376056	NM_006747.4(SIPA1):c.139C>T (p.Arg47Trp)	SIPA1 (R47W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336851	NM_006747.4(SIPA1):c.149T>C (p.Leu50Pro)	SIPA1 (L50P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318567	NM_006747.4(SIPA1):c.166G>A (p.Asp56Asn)	SIPA1 (D56N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597276	NM_006747.4(SIPA1):c.175G>A (p.Glu59Lys)	SIPA1 (E59K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228230	NM_006747.4(SIPA1):c.211C>T (p.Arg71Cys)	SIPA1 (R71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486440	NM_006747.4(SIPA1):c.217C>G (p.His73Asp)	SIPA1 (H73D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290282	NM_006747.4(SIPA1):c.221G>A (p.Ser74Asn)	SIPA1 (S74N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288842	NM_006747.4(SIPA1):c.237C>G (p.Ser79Arg)	SIPA1 (S79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273826	NM_006747.4(SIPA1):c.259C>T (p.Arg87Trp)	SIPA1 (R87W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717624	NM_006747.4(SIPA1):c.316G>T (p.Ala106Ser)	SIPA1 (A106S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3162366	NM_006747.4(SIPA1):c.338C>A (p.Pro113His)	SIPA1 (P113H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402983	NM_006747.4(SIPA1):c.355T>C (p.Tyr119His)	SIPA1 (Y119H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 691381	NM_006747.4(SIPA1):c.367A>G (p.Ser123Gly)	SIPA1 (S123G)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 3318568	NM_006747.4(SIPA1):c.436C>G (p.Leu146Val)	SIPA1 (L146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347700	NM_006747.4(SIPA1):c.467C>T (p.Ser156Leu)	SIPA1 (S156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318569	NM_006747.4(SIPA1):c.646G>T (p.Ala216Ser)	SIPA1 (A216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162368	NM_006747.4(SIPA1):c.829A>G (p.Ile277Val)	SIPA1 (I277V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457428	NM_006747.4(SIPA1):c.920G>A (p.Cys307Tyr)	SIPA1 (C307Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508504	NM_006747.4(SIPA1):c.1002G>C (p.Lys334Asn)	SIPA1 (K334N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508505	NM_006747.4(SIPA1):c.1003G>A (p.Val335Met)	SIPA1 (V335M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602295	NM_006747.4(SIPA1):c.1025C>T (p.Ala342Val)	SIPA1 (A342V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410328	NM_006747.4(SIPA1):c.1037C>T (p.Ser346Leu)	SIPA1 (S346L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162346	NM_006747.4(SIPA1):c.1064A>C (p.Glu355Ala)	SIPA1 (E355A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162347	NM_006747.4(SIPA1):c.1089T>G (p.Phe363Leu)	SIPA1 (F363L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784193	NM_006747.4(SIPA1):c.1104C>T (p.Gly368=)	SIPA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2599165	NM_006747.4(SIPA1):c.1132A>G (p.Ser378Gly)	SIPA1 (S378G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318574	NM_006747.4(SIPA1):c.1138C>T (p.Arg380Trp)	SIPA1 (R380W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279569	NM_006747.4(SIPA1):c.1178A>G (p.His393Arg)	SIPA1 (H393R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234292	NM_006747.4(SIPA1):c.1206C>A (p.His402Gln)	SIPA1 (H402Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315791	NM_006747.4(SIPA1):c.1251T>A (p.Asn417Lys)	SIPA1 (N417K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162349	NM_006747.4(SIPA1):c.1254C>G (p.Asn418Lys)	SIPA1 (N418K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204017	NM_006747.4(SIPA1):c.1403C>T (p.Thr468Met)	SIPA1 (T468M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222758	NM_006747.4(SIPA1):c.1514C>T (p.Ala505Val)	SIPA1 (A505V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162350	NM_006747.4(SIPA1):c.1565G>A (p.Arg522His)	SIPA1 (R522H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318570	NM_006747.4(SIPA1):c.1672C>T (p.Pro558Ser)	SIPA1 (P558S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162351	NM_006747.4(SIPA1):c.1705C>T (p.Arg569Trp)	SIPA1 (R569W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162352	NM_006747.4(SIPA1):c.1778T>G (p.Val593Gly)	SIPA1 (V593G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162353	NM_006747.4(SIPA1):c.1784C>A (p.Ala595Asp)	SIPA1 (A595D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162354	NM_006747.4(SIPA1):c.1805C>T (p.Pro602Leu)	SIPA1 (P602L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382303	NM_006747.4(SIPA1):c.1868C>T (p.Pro623Leu)	SIPA1 (P623L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370128	NM_006747.4(SIPA1):c.1873G>A (p.Asp625Asn)	SIPA1 (D625N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162355	NM_006747.4(SIPA1):c.1996G>A (p.Gly666Ser)	SIPA1 (G666S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545052	NM_006747.4(SIPA1):c.2056C>G (p.Arg686Gly)	SIPA1 (R686G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298516	NM_006747.4(SIPA1):c.2071C>A (p.Pro691Thr)	SIPA1 (P691T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624188	NM_006747.4(SIPA1):c.2081G>A (p.Gly694Asp)	SIPA1 (G694D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162357	NM_006747.4(SIPA1):c.2100C>G (p.Phe700Leu)	SIPA1 (F700L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355020	NM_006747.4(SIPA1):c.2126C>T (p.Thr709Met)	SIPA1 (T709M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316931	NM_006747.4(SIPA1):c.2149G>A (p.Ala717Thr)	SIPA1 (A717T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318573	NM_006747.4(SIPA1):c.2206C>G (p.Leu736Val)	SIPA1 (L736V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484979	NM_006747.4(SIPA1):c.2218C>T (p.Arg740Trp)	SIPA1 (R740W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270898	NM_006747.4(SIPA1):c.2236C>G (p.Gln746Glu)	SIPA1 (Q746E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605493	NM_006747.4(SIPA1):c.2282C>A (p.Pro761His)	SIPA1 (P761H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359162	NM_006747.4(SIPA1):c.2327C>T (p.Thr776Met)	SIPA1 (T776M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2362342	NM_006747.4(SIPA1):c.2333C>T (p.Ser778Leu)	SIPA1 (S778L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162359	NM_006747.4(SIPA1):c.2372T>G (p.Val791Gly)	SIPA1 (V791G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747317	NM_006747.4(SIPA1):c.2425C>T (p.His809Tyr)	SIPA1 (H809Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3162360	NM_006747.4(SIPA1):c.2446G>A (p.Gly816Ser)	SIPA1 (G816S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3318572	NM_006747.4(SIPA1):c.2603T>C (p.Val868Ala)	SIPA1 (V868A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386021	NM_006747.4(SIPA1):c.2616C>G (p.Asp872Glu)	SIPA1 (D872E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295946	NM_006747.4(SIPA1):c.2644C>A (p.Pro882Thr)	SIPA1 (P882T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391425	NM_006747.4(SIPA1):c.2654C>T (p.Pro885Leu)	SIPA1 (P885L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513156	NM_006747.4(SIPA1):c.2681C>T (p.Pro894Leu)	SIPA1 (P894L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162361	NM_006747.4(SIPA1):c.2725C>G (p.Leu909Val)	SIPA1 (L909V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402476	NM_006747.4(SIPA1):c.2753C>T (p.Ser918Leu)	SIPA1 (S918L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785814	NM_006747.4(SIPA1):c.2762G>T (p.Gly921Val)	SIPA1 (G921V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2618585	NM_006747.4(SIPA1):c.2768G>A (p.Gly923Glu)	SIPA1 (G923E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2302898	NM_006747.4(SIPA1):c.3002C>T (p.Ala1001Val)	SIPA1 (A1001V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162362	NM_006747.4(SIPA1):c.3026T>C (p.Leu1009Pro)	SIPA1 (L1009P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162364	NM_006747.4(SIPA1):c.3037A>G (p.Asn1013Asp)	SIPA1 (N1013D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162363	NM_006747.4(SIPA1):c.3037A>C (p.Asn1013His)	SIPA1 (N1013H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318571	NM_006747.4(SIPA1):c.3040C>T (p.Arg1014Trp)	SIPA1 (R1014W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162365	NM_006747.4(SIPA1):c.3043C>T (p.Arg1015Trp)	SIPA1 (R1015W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376948	NM_006747.4(SIPA1):c.3076C>T (p.Arg1026Cys)	SIPA1 (R1026C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323311	NM_006747.4(SIPA1):c.3103G>C (p.Gly1035Arg)	SIPA1 (G1035R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323050	NM_006747.4(SIPA1):c.3118G>T (p.Asp1040Tyr)	SIPA1 (D1040Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1075392	NM_021975.4(RELA):c.985C>T (p.Arg329Ter)	RELA, SIPA1 (R326* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 2426697	NC_000011.9:g.(?_65325080)_(65639825_?)del	AP5B1, CFL1 +15 more	Deletion	Aicardi-Goutieres syndrome 3	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 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 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

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Items: 95