ClinVar for Gene (Select 80209) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310321	NM_025138.5(PROSER1):c.523G>A (p.Gly175Ser)	PROSER1 (G153S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310320	NM_025138.5(PROSER1):c.883C>G (p.Pro295Ala)	PROSER1 (P273A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310319	NM_025138.5(PROSER1):c.1658T>G (p.Leu553Arg)	PROSER1 (L553R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310318	NM_025138.5(PROSER1):c.2471C>T (p.Ala824Val)	PROSER1 (A802V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310317	NM_025138.5(PROSER1):c.2206A>G (p.Thr736Ala)	PROSER1 (T736A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3310316	NM_025138.5(PROSER1):c.2575C>T (p.Leu859Phe)	PROSER1 (L837F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310315	NM_025138.5(PROSER1):c.2389C>A (p.Pro797Thr)	PROSER1 (P775T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310314	NM_025138.5(PROSER1):c.1879A>G (p.Asn627Asp)	PROSER1 (N627D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244229	NC_000013.10:g.(?_36878502)_(40325230_?)dup	ALG5, CCNA1 +16 more	Duplication	not provided	GUncertain significance
Select item 3219094	NM_025138.5(PROSER1):c.824C>T (p.Pro275Leu)	PROSER1 (P253L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219093	NM_025138.5(PROSER1):c.677C>T (p.Ala226Val)	PROSER1 (A226V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219092	NM_025138.5(PROSER1):c.547C>A (p.Leu183Ile)	PROSER1 (L183I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219090	NM_025138.5(PROSER1):c.2464C>T (p.Pro822Ser)	PROSER1 (P800S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219089	NM_025138.5(PROSER1):c.2392A>G (p.Ser798Gly)	PROSER1 (S776G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219087	NM_025138.5(PROSER1):c.2266C>A (p.Pro756Thr)	PROSER1 (P734T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219086	NM_025138.5(PROSER1):c.224A>G (p.Asn75Ser)	PROSER1 (N75S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219085	NM_025138.5(PROSER1):c.2239G>C (p.Val747Leu)	PROSER1 (V725L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219083	NM_025138.5(PROSER1):c.209T>C (p.Val70Ala)	PROSER1 (V70A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219082	NM_025138.5(PROSER1):c.1798G>A (p.Ala600Thr)	PROSER1 (A578T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219081	NM_025138.5(PROSER1):c.1730C>T (p.Ser577Phe)	PROSER1 (S555F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219080	NM_025138.5(PROSER1):c.1632C>T (p.Pro544=)	PROSER1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3219079	NM_025138.5(PROSER1):c.1381C>T (p.Pro461Ser)	PROSER1 (P461S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219078	NM_025138.5(PROSER1):c.125T>C (p.Leu42Pro)	PROSER1 (L20P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219077	NM_025138.5(PROSER1):c.1096G>A (p.Val366Met)	PROSER1 (V366M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064271	NM_025138.5(PROSER1):c.1833del (p.Thr612fs)	PROSER1 (T590fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063306	GRCh37/hg19 13q13.2-14.11(chr13:35060982-44540846)x1	AKAP11, ALG5 +42 more	Copy number loss	not specified	GUncertain significance
Select item 3041065	NM_025138.5(PROSER1):c.1669G>A (p.Val557Ile)	PROSER1 (V535I +1 more)	Single nucleotide variant (missense variant)	PROSER1-related disorder	GLikely benign
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	ITM2B, KBTBD6 +119 more	Copy number loss	not provided	GPathogenic
Select item 2672544	NM_025138.5(PROSER1):c.1626G>A (p.Pro542=)	PROSER1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2643775	NM_025138.5(PROSER1):c.2463A>G (p.Leu821=)	PROSER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620730	NM_025138.5(PROSER1):c.1784C>T (p.Ser595Leu)	PROSER1 (S595L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609257	NM_025138.5(PROSER1):c.1340C>A (p.Thr447Asn)	PROSER1 (T425N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608293	NM_025138.5(PROSER1):c.1998G>C (p.Leu666Phe)	PROSER1 (L644F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604464	NM_025138.5(PROSER1):c.1210A>G (p.Thr404Ala)	PROSER1 (T382A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597937	NM_025138.5(PROSER1):c.1387G>A (p.Gly463Ser)	PROSER1 (G463S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554770	NM_025138.5(PROSER1):c.847G>A (p.Val283Ile)	PROSER1 (V261I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527417	NM_025138.5(PROSER1):c.620G>A (p.Arg207Gln)	PROSER1 (R185Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493235	NM_025138.5(PROSER1):c.1844C>T (p.Thr615Ile)	PROSER1 (T615I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489285	NM_025138.5(PROSER1):c.2231C>T (p.Thr744Met)	PROSER1 (T722M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468858	NM_025138.5(PROSER1):c.1565C>T (p.Ser522Leu)	PROSER1 (S500L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455853	NM_025138.5(PROSER1):c.2813T>C (p.Leu938Pro)	PROSER1 (L938P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454409	NM_025138.5(PROSER1):c.283A>C (p.Ile95Leu)	PROSER1 (I95L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408566	NM_025138.5(PROSER1):c.1921C>T (p.Arg641Cys)	PROSER1 (R641C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391556	NM_025138.5(PROSER1):c.163A>G (p.Met55Val)	PROSER1 (M33V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370566	NM_025138.5(PROSER1):c.215A>G (p.Asn72Ser)	PROSER1 (N72S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368951	NM_025138.5(PROSER1):c.2542G>A (p.Ala848Thr)	PROSER1 (A826T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367292	NM_025138.5(PROSER1):c.2405C>T (p.Ala802Val)	PROSER1 (A802V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360130	NM_025138.5(PROSER1):c.574A>G (p.Thr192Ala)	PROSER1 (T170A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360041	NM_025138.5(PROSER1):c.2104T>A (p.Ser702Thr)	PROSER1 (S702T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355479	NM_025138.5(PROSER1):c.1310C>T (p.Pro437Leu)	PROSER1 (P415L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355072	NM_025138.5(PROSER1):c.1156C>T (p.Pro386Ser)	PROSER1 (P364S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351951	NM_025138.5(PROSER1):c.1747C>T (p.Arg583Cys)	PROSER1 (R561C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331072	NM_025138.5(PROSER1):c.1427T>G (p.Leu476Arg)	PROSER1 (L476R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325806	NM_025138.5(PROSER1):c.2680A>C (p.Asn894His)	PROSER1 (N894H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320682	NM_025138.5(PROSER1):c.578A>G (p.Tyr193Cys)	PROSER1 (Y193C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312394	NM_025138.5(PROSER1):c.2251C>T (p.Leu751Phe)	PROSER1 (L729F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301584	NM_025138.5(PROSER1):c.1861G>T (p.Gly621Cys)	PROSER1 (G621C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298856	NM_025138.5(PROSER1):c.2311C>G (p.Pro771Ala)	PROSER1 (P749A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295114	NM_025138.5(PROSER1):c.2363A>G (p.Tyr788Cys)	PROSER1 (Y766C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290399	NM_025138.5(PROSER1):c.587A>G (p.His196Arg)	PROSER1 (H174R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286940	NM_025138.5(PROSER1):c.1072G>C (p.Val358Leu)	PROSER1 (V358L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278682	NM_025138.5(PROSER1):c.1160G>A (p.Arg387Gln)	PROSER1 (R365Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275395	NM_025138.5(PROSER1):c.1148G>C (p.Gly383Ala)	PROSER1 (G361A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259375	NM_025138.5(PROSER1):c.703C>G (p.Pro235Ala)	PROSER1 (P213A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253384	NM_025138.5(PROSER1):c.220C>A (p.Leu74Ile)	PROSER1 (L52I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240602	NM_025138.5(PROSER1):c.811C>T (p.His271Tyr)	PROSER1 (H249Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239859	NM_025138.5(PROSER1):c.2746G>A (p.Ala916Thr)	PROSER1 (A894T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225400	NM_025138.5(PROSER1):c.863C>T (p.Pro288Leu)	PROSER1 (P266L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222791	NM_025138.5(PROSER1):c.2194G>A (p.Ala732Thr)	PROSER1 (A710T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215419	NM_025138.5(PROSER1):c.2150C>T (p.Pro717Leu)	PROSER1 (P695L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204904	NM_025138.5(PROSER1):c.2662T>G (p.Leu888Val)	PROSER1 (L866V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2065480	NM_025138.5(PROSER1):c.1010T>C (p.Ile337Thr)	PROSER1 (I315T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065479	NM_025138.5(PROSER1):c.1033G>A (p.Ala345Thr)	PROSER1 (A323T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809134	GRCh37/hg19 13q13.3-14.11(chr13:35501428-40901176)x1	ALG5, CCDC169 +22 more	Copy number loss	not provided	GPathogenic
Select item 1808770	GRCh37/hg19 13q13.3-14.11(chr13:36148057-41670428)x3	ALG5, CCDC169 +26 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 1527767	GRCh37/hg19 13q13.3-14.11(chr13:39428367-43608103)	AKAP11, COG6 +21 more	Copy number loss	not specified	GUncertain significance
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 more	Copy number loss	not specified	GPathogenic
Select item 1527763	GRCh37/hg19 13q13.3(chr13:35531798-39607778)	ALG5, CCDC169 +19 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	AKAP11, ALG11 +127 more	Copy number loss	not specified	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 1338846	GRCh38/hg38 13q13.3(chr13:38940342-39433293)	LHFPL6, LOC105370169 +11 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
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 979367	GRCh37/hg19 13q13.3-14.11(chr13:39531602-40152084)x1	LHFPL6, NHLRC3 +2 more	Copy number loss	not provided	GUncertain significance
Select item 781104	NM_025138.5(PROSER1):c.2412C>T (p.Pro804=)	PROSER1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781103	NM_025138.5(PROSER1):c.2539T>A (p.Ser847Thr)	PROSER1 (S825T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
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 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
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 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 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

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