29810[HGNC] - ClinVar

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Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153719	GRCh38/hg38 13q11-12.11(chr13:18862146-22489174)x3	CRYL1, EEF1AKMT1 +116 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 146898	GRCh38/hg38 13q12.11(chr13:19503409-20005117)x3	LOC130009290, LOC130009291 +22 more	Copy number gain	See cases	GUncertain significance
Select item 147859	GRCh38/hg38 13q12.11(chr13:19632400-20005117)x3	LOC130009295, LOC130009296 +15 more	Copy number gain	See cases	GUncertain significance
Select item 2315663	NM_017520.4(MPHOSPH8):c.10G>C (p.Val4Leu)	LOC130009296, MPHOSPH8 (V4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201986	NM_017520.4(MPHOSPH8):c.104G>A (p.Gly35Asp)	LOC130009296, MPHOSPH8 (G35D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201995	NM_017520.4(MPHOSPH8):c.110A>G (p.Asp37Gly)	LOC130009296, MPHOSPH8 (D37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295684	NM_017520.4(MPHOSPH8):c.146G>A (p.Gly49Asp)	LOC130009296, MPHOSPH8 (G49D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511588	NM_017520.4(MPHOSPH8):c.199A>G (p.Met67Val)	LOC130009296, MPHOSPH8 (M67V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526421	NM_017520.4(MPHOSPH8):c.236G>A (p.Arg79His)	MPHOSPH8 (R79H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295686	NM_017520.4(MPHOSPH8):c.449C>T (p.Pro150Leu)	MPHOSPH8 (P150L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542089	NM_017520.4(MPHOSPH8):c.479G>T (p.Arg160Ile)	MPHOSPH8 (R160I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300825	NM_017520.4(MPHOSPH8):c.611C>T (p.Ser204Phe)	MPHOSPH8 (S204F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202071	NM_017520.4(MPHOSPH8):c.655G>A (p.Asp219Asn)	MPHOSPH8 (D219N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202074	NM_017520.4(MPHOSPH8):c.664A>G (p.Lys222Glu)	MPHOSPH8 (K222E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469206	NM_017520.4(MPHOSPH8):c.817C>T (p.Pro273Ser)	MPHOSPH8 (P273S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643665	NM_017520.4(MPHOSPH8):c.906G>A (p.Gln302=)	MPHOSPH8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2250405	NM_017520.4(MPHOSPH8):c.923A>G (p.His308Arg)	MPHOSPH8 (H308R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251872	NM_017520.4(MPHOSPH8):c.952A>T (p.Met318Leu)	MPHOSPH8 (M318L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202086	NM_017520.4(MPHOSPH8):c.962A>T (p.Glu321Val)	MPHOSPH8 (E321V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202088	NM_017520.4(MPHOSPH8):c.973G>A (p.Asp325Asn)	MPHOSPH8 (D325N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523119	NM_017520.4(MPHOSPH8):c.976G>A (p.Val326Ile)	MPHOSPH8 (V326I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295688	NM_017520.4(MPHOSPH8):c.1037A>G (p.Lys346Arg)	MPHOSPH8 (K346R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395945	NM_017520.4(MPHOSPH8):c.1054G>A (p.Ala352Thr)	MPHOSPH8 (A352T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2477774	NM_017520.4(MPHOSPH8):c.1114G>T (p.Ala372Ser)	MPHOSPH8 (A372S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295683	NM_017520.4(MPHOSPH8):c.1177G>A (p.Gly393Arg)	MPHOSPH8 (G393R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529875	NM_017520.4(MPHOSPH8):c.1437C>A (p.Asp479Glu)	MPHOSPH8 (D479E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3295689	NM_017520.4(MPHOSPH8):c.1552G>A (p.Val518Met)	MPHOSPH8 (V518M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295682	NM_017520.4(MPHOSPH8):c.1561G>A (p.Ala521Thr)	MPHOSPH8 (A521T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202004	NM_017520.4(MPHOSPH8):c.1568A>G (p.Glu523Gly)	MPHOSPH8 (E523G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475037	NM_017520.4(MPHOSPH8):c.1630A>C (p.Lys544Gln)	MPHOSPH8 (K544Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295687	NM_017520.4(MPHOSPH8):c.1705G>T (p.Val569Leu)	MPHOSPH8 (V569L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202010	NM_017520.4(MPHOSPH8):c.1706T>C (p.Val569Ala)	MPHOSPH8 (V569A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495733	NM_017520.4(MPHOSPH8):c.1713G>C (p.Arg571Ser)	MPHOSPH8 (R571S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402363	NM_017520.4(MPHOSPH8):c.1742C>G (p.Thr581Ser)	MPHOSPH8 (T581S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202020	NM_017520.4(MPHOSPH8):c.1793A>G (p.Asp598Gly)	MPHOSPH8 (D598G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210766	NM_017520.4(MPHOSPH8):c.1831G>A (p.Gly611Arg)	MPHOSPH8 (G611R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689442	NM_017520.4(MPHOSPH8):c.1852C>T (p.Arg618Ter)	MPHOSPH8 (R618*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2529031	NM_017520.4(MPHOSPH8):c.2201T>C (p.Ile734Thr)	MPHOSPH8 (I734T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458652	NM_017520.4(MPHOSPH8):c.2210A>G (p.Tyr737Cys)	MPHOSPH8 (Y737C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202041	NM_017520.4(MPHOSPH8):c.2254G>A (p.Ala752Thr)	MPHOSPH8 (A752T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202045	NM_017520.4(MPHOSPH8):c.2300A>G (p.Asn767Ser)	MPHOSPH8 (N767S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371233	NM_017520.4(MPHOSPH8):c.2375A>G (p.Lys792Arg)	MPHOSPH8 (K792R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202054	NM_017520.4(MPHOSPH8):c.2476T>C (p.Ser826Pro)	MPHOSPH8, PSPC1 (S826P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318892	NM_017520.4(MPHOSPH8):c.2489T>C (p.Val830Ala)	MPHOSPH8, PSPC1 (V830A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488527	NM_017520.4(MPHOSPH8):c.2497C>G (p.Pro833Ala)	MPHOSPH8, PSPC1 (P833A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295690	NM_017520.4(MPHOSPH8):c.2573A>G (p.Gln858Arg)	MPHOSPH8, PSPC1 (Q858R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155130	GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1	ATP12A, C1QTNF9 +181 more	Copy number loss	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 3148926	GRCh37/hg19 13q12.11(chr13:19748336-20797299)x3	GJA3, GJB2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 2684691	GRCh37/hg19 13q12.11(chr13:20050099-20602627)x3	MPHOSPH8, PSPC1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684690	GRCh37/hg19 13q12.11(chr13:19777092-20278649)x3	MPHOSPH8, PSPC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1809316	GRCh37/hg19 13q11-12.11(chr13:19436287-22089005)x1	CRYL1, EEF1AKMT1 +18 more	Copy number loss	not provided	GPathogenic
Select item 1809104	GRCh37/hg19 13q12.11(chr13:20225258-20529450)x3	PSPC1, ZMYM5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808759	GRCh37/hg19 13q12.11(chr13:20121619-20501716)x3	MPHOSPH8, PSPC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808257	GRCh37/hg19 13q11-12.11(chr13:19436287-22405375)x3	CRYL1, EEF1AKMT1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1807884	GRCh37/hg19 13q12.11(chr13:19725083-20273635)x3	MPHOSPH8, PSPC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 981007	GRCh37/hg19 13q12.11(chr13:20085212-20571450)x3	MPHOSPH8, PSPC1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815567	GRCh37/hg19 13q11-12.12(chr13:19436286-24970361)x1	MPHOSPH8, FGF9 +27 more	Copy number loss	not provided	GPathogenic
Select item 815566	GRCh37/hg19 13q11-12.11(chr13:19436286-20886867)x3	ZMYM5, TUBA3C +7 more	Copy number gain	not provided	GUncertain significance
Select item 688667	GRCh37/hg19 13q12.11(chr13:20127464-20545714)x3	MPHOSPH8, PSPC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 686932	GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3	AMER2, ATP12A +40 more	Copy number gain	not provided	GPathogenic
Select item 686506	GRCh37/hg19 13q12.11(chr13:20195934-20466702)x3	MPHOSPH8, PSPC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685307	GRCh37/hg19 13q11-12.11(chr13:19436286-23274540)x1	CRYL1, EEF1AKMT1 +19 more	Copy number loss	not provided	GPathogenic
Select item 625812	GRCh37/hg19 13q12.11(chr13:19540031-22849981)	CRYL1, EEF1AKMT1 +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 564075	GRCh37/hg19 13q12.11-12.13(chr13:20008480-25534121)x1	ATP12A, C1QTNF9 +30 more	Copy number loss	not provided	GPathogenic
Select item 564041	GRCh37/hg19 13q12.11(chr13:20225257-20776711)x3	PSPC1, MPHOSPH8 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443440	GRCh37/hg19 13q12.11(chr13:20095295-20608465)x3	MPHOSPH8, PSPC1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 395513	GRCh37/hg19 13q12.11(chr13:20208069-20530643)x3	MPHOSPH8, PSPC1 +1 more	Copy number gain	See cases	GLikely benign
Select item 394927	GRCh37/hg19 13q12.11(chr13:20208069-20436518)x3	MPHOSPH8, PSPC1 +1 more	Copy number gain	See cases	GLikely benign
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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Items: 93