STARD13[gene] - ClinVar - NCBI

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	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 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 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 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 148858	GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1	ALOX5AP, B3GLCT +203 more	Copy number loss	See cases	GPathogenic
Select item 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +211 more	Copy number gain	See cases	GPathogenic
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	ALG5, ALOX5AP +214 more	Copy number loss	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 57639	GRCh38/hg38 13q12.3-13.2(chr13:31164047-34428736)x1	B3GLCT, BRCA2 +79 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 155074	GRCh38/hg38 13q13.1-13.2(chr13:32709960-33487709)x3	KL, LINC00423 +24 more	Copy number gain	See cases	GUncertain significance
Select item 58145	GRCh38/hg38 13q13.1(chr13:33018055-33389580)x1	KL, LINC02344 +16 more	Copy number loss	See cases	GUncertain significance
Select item 2525519	NM_178006.4(STARD13):c.3274G>A (p.Ala1092Thr)	STARD13 (A1084T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544854	NM_178006.4(STARD13):c.3215T>C (p.Ile1072Thr)	STARD13 (I1037T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791588	NM_178006.4(STARD13):c.3174G>A (p.Pro1058=)	STARD13	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2467661	NM_178006.4(STARD13):c.3158A>G (p.Gln1053Arg)	STARD13 (Q1018R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739620	NM_178006.4(STARD13):c.3143T>A (p.Val1048Glu)	STARD13 (V930E +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2548567	NM_178006.4(STARD13):c.3120G>C (p.Gln1040His)	STARD13 (Q1005H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284127	NM_178006.4(STARD13):c.3032A>C (p.Asp1011Ala)	STARD13 (D996A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785444	NM_178006.4(STARD13):c.3022C>T (p.Pro1008Ser)	STARD13 (P1000S +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3170952	NM_178006.4(STARD13):c.3019C>T (p.His1007Tyr)	STARD13 (H1007Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590660	NM_178006.4(STARD13):c.3017C>A (p.Pro1006His)	STARD13 (P991H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366511	NM_178006.4(STARD13):c.3017C>T (p.Pro1006Leu)	STARD13 (P1006L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554360	NM_178006.4(STARD13):c.2975G>A (p.Arg992Lys)	STARD13 (R874K +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2589395	NM_178006.4(STARD13):c.2968C>G (p.Leu990Val)	STARD13 (L955V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170951	NM_178006.4(STARD13):c.2935G>A (p.Glu979Lys)	STARD13 (E979K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170950	NM_178006.4(STARD13):c.2921G>A (p.Arg974His)	STARD13 (R856H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727552	NM_178006.4(STARD13):c.2889C>T (p.Pro963=)	STARD13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786239	NM_178006.4(STARD13):c.2790G>A (p.Thr930=)	STARD13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3323093	NM_178006.4(STARD13):c.2789C>T (p.Thr930Met)	STARD13 (T812M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338921	NM_178006.4(STARD13):c.2762C>T (p.Ala921Val)	STARD13 (A886V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323097	NM_178006.4(STARD13):c.2495T>A (p.Val832Asp)	STARD13 (V832D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170949	NM_178006.4(STARD13):c.2489C>T (p.Pro830Leu)	STARD13 (P712L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407427	NM_178006.4(STARD13):c.2423T>C (p.Met808Thr)	STARD13 (M800T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293674	NM_178006.4(STARD13):c.2419C>T (p.Pro807Ser)	STARD13 (P792S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323096	NM_178006.4(STARD13):c.2386G>A (p.Val796Ile)	STARD13 (V678I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170947	NM_178006.4(STARD13):c.2383G>C (p.Asp795His)	STARD13 (D677H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726916	NM_178006.4(STARD13):c.2310C>T (p.Ala770=)	STARD13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3170946	NM_178006.4(STARD13):c.2293G>C (p.Glu765Gln)	STARD13 (E730Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492536	NM_178006.4(STARD13):c.2219G>A (p.Arg740Gln)	STARD13 (R725Q +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2522514	NM_178006.4(STARD13):c.2195C>T (p.Ala732Val)	STARD13 (A717V +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2412356	NM_178006.4(STARD13):c.2095C>T (p.Arg699Cys)	STARD13 (R581C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290878	NM_178006.4(STARD13):c.1985G>C (p.Gly662Ala)	STARD13 (G544A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393750	NM_178006.4(STARD13):c.1940T>C (p.Met647Thr)	STARD13 (M529T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476772	NM_178006.4(STARD13):c.1930C>T (p.Pro644Ser)	STARD13 (P636S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323095	NM_178006.4(STARD13):c.1875G>A (p.Thr625=)	STARD13	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2283081	NM_178006.4(STARD13):c.1874C>T (p.Thr625Met)	STARD13 (T507M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395410	NM_178006.4(STARD13):c.1867C>T (p.Arg623Cys)	STARD13 (R588C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355293	NM_178006.4(STARD13):c.1846C>T (p.Leu616Phe)	STARD13 (L601F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338767	NM_178006.4(STARD13):c.1844T>C (p.Leu615Pro)	STARD13 (L497P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297494	NM_178006.4(STARD13):c.1793C>G (p.Pro598Arg)	STARD13 (P563R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370320	NM_178006.4(STARD13):c.1789C>T (p.Arg597Trp)	STARD13 (R479W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232690	NM_178006.4(STARD13):c.1759T>C (p.Trp587Arg)	STARD13 (W469R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330316	NM_178006.4(STARD13):c.1757G>A (p.Arg586Gln)	STARD13 (R586Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391287	NM_178006.4(STARD13):c.1751G>A (p.Arg584Gln)	STARD13 (R569Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536341	NM_178006.4(STARD13):c.1675A>G (p.Asn559Asp)	STARD13 (N441D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204357	NM_178006.4(STARD13):c.1634G>A (p.Arg545Gln)	STARD13 (R537Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411342	NM_178006.4(STARD13):c.1633C>T (p.Arg545Trp)	STARD13 (R427W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470541	NM_178006.4(STARD13):c.1624T>G (p.Ser542Ala)	STARD13 (S507A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525703	NM_178006.4(STARD13):c.1594A>G (p.Ile532Val)	STARD13 (I517V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623629	NM_178006.4(STARD13):c.1580C>T (p.Pro527Leu)	STARD13 (P512L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561386	NM_178006.4(STARD13):c.1577T>C (p.Phe526Ser)	STARD13 (F408S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338394	NM_178006.4(STARD13):c.1574C>T (p.Thr525Ile)	STARD13 (T510I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323094	NM_178006.4(STARD13):c.1561C>T (p.Pro521Ser)	STARD13 (P506S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170945	NM_178006.4(STARD13):c.1532T>C (p.Leu511Pro)	STARD13 (L476P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329133	NM_178006.4(STARD13):c.1405G>T (p.Ala469Ser)	STARD13 (A351S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643735	NM_178006.4(STARD13):c.1344G>A (p.Ala448=)	STARD13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2363589	NM_178006.4(STARD13):c.1342G>A (p.Ala448Thr)	STARD13 (A433T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170944	NM_178006.4(STARD13):c.1333C>T (p.Arg445Trp)	STARD13 (R410W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170943	NM_178006.4(STARD13):c.1313T>C (p.Val438Ala)	STARD13 (V320A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776794	NM_178006.4(STARD13):c.1275T>C (p.Asn425=)	STARD13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2480499	NM_178006.4(STARD13):c.1146C>A (p.Ser382Arg)	STARD13 (S367R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775341	NM_178006.4(STARD13):c.1116G>T (p.Gly372=)	STARD13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 742749	NM_178006.4(STARD13):c.1113G>A (p.Ala371=)	STARD13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714326	NM_178006.4(STARD13):c.1112C>T (p.Ala371Val)	STARD13 (A336V +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2208458	NM_178006.4(STARD13):c.1076G>A (p.Arg359His)	STARD13 (R241H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323098	NM_178006.4(STARD13):c.1069A>G (p.Asn357Asp)	STARD13 (N342D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732798	NM_178006.4(STARD13):c.1062C>T (p.His354=)	STARD13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2373922	NM_178006.4(STARD13):c.1012C>A (p.His338Asn)	STARD13 (H323N +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525472	NM_178006.4(STARD13):c.1007C>T (p.Ser336Leu)	STARD13 (S301L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537560	NM_178006.4(STARD13):c.1004C>T (p.Pro335Leu)	STARD13 (P217L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554534	NM_178006.4(STARD13):c.989G>A (p.Ser330Asn)	STARD13 (S295N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553059	NM_178006.4(STARD13):c.869T>C (p.Met290Thr)	STARD13 (M290T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312403	NM_178006.4(STARD13):c.827A>G (p.Lys276Arg)	STARD13 (K241R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459782	NM_178006.4(STARD13):c.784C>T (p.Arg262Cys)	STARD13 (R254C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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