POSTN[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 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 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 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 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 57640	GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1	ALG5, CCDC169 +146 more	Copy number loss	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 154055	GRCh38/hg38 13q13.3(chr13:37156369-39010872)x3	FREM2, FREM2-AS1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 57641	GRCh38/hg38 13q13.3(chr13:37210304-39034199)x1	FREM2, FREM2-AS1 +25 more	Copy number loss	See cases	GPathogenic
Select item 2219138	NM_006475.3(POSTN):c.2501G>A (p.Arg834His)	POSTN (R719H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782576	NM_006475.3(POSTN):c.2396T>C (p.Phe799Ser)	POSTN (F799S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2389131	NM_006475.3(POSTN):c.2372T>C (p.Ile791Thr)	POSTN (I704T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308935	NM_006475.3(POSTN):c.2141T>A (p.Ile714Asn)	POSTN (I687N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545635	NM_006475.3(POSTN):c.2125C>T (p.Pro709Ser)	POSTN (P682S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588504	NM_006475.3(POSTN):c.2120G>A (p.Gly707Asp)	POSTN (G707D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331298	NM_006475.3(POSTN):c.2116G>C (p.Glu706Gln)	POSTN (E706Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529880	NM_006475.3(POSTN):c.2098C>G (p.Leu700Val)	POSTN (L673V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260479	NM_006475.3(POSTN):c.2060G>A (p.Gly687Asp)	POSTN (G687D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541800	NM_006475.3(POSTN):c.2026A>C (p.Lys676Gln)	POSTN (K676Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489393	NM_006475.3(POSTN):c.1985A>G (p.Lys662Arg)	POSTN (K662R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216820	NM_006475.3(POSTN):c.1946A>C (p.Lys649Thr)	POSTN (K604T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216818	NM_006475.3(POSTN):c.1912G>T (p.Asp638Tyr)	POSTN (D638Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216817	NM_006475.3(POSTN):c.1826C>T (p.Ser609Leu)	POSTN (S609L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216816	NM_006475.3(POSTN):c.1792G>A (p.Val598Ile)	POSTN (V553I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216815	NM_006475.3(POSTN):c.1708G>C (p.Gly570Arg)	POSTN (G525R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216814	NM_006475.3(POSTN):c.1670A>G (p.Asn557Ser)	POSTN (N512S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274898	NM_006475.3(POSTN):c.1665C>A (p.Asp555Glu)	POSTN (D555E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599120	NM_006475.3(POSTN):c.1583C>T (p.Pro528Leu)	POSTN (P483L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409767	NM_006475.3(POSTN):c.1495C>T (p.Leu499Phe)	POSTN (L499F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227851	NM_006475.3(POSTN):c.1430G>A (p.Ser477Asn)	POSTN (S477N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205199	NM_006475.3(POSTN):c.1381G>A (p.Val461Ile)	POSTN (V461I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216813	NM_006475.3(POSTN):c.1268G>A (p.Arg423His)	POSTN (R423H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216812	NM_006475.3(POSTN):c.1252C>G (p.Leu418Val)	POSTN (L418V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249853	NM_006475.3(POSTN):c.1186G>C (p.Ala396Pro)	POSTN (A396P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344326	NM_006475.3(POSTN):c.1154C>T (p.Thr385Met)	POSTN (T385M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223240	NM_006475.3(POSTN):c.1136A>T (p.Lys379Ile)	POSTN (K379I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 757603	NM_006475.3(POSTN):c.1086T>C (p.Asp362=)	POSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2311589	NM_006475.3(POSTN):c.1029C>G (p.Ile343Met)	POSTN (I343M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722406	NM_006475.3(POSTN):c.1002C>T (p.Asp334=)	POSTN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2610359	NM_006475.3(POSTN):c.977G>T (p.Gly326Val)	POSTN (G326V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345737	NM_006475.3(POSTN):c.947T>C (p.Met316Thr)	POSTN (M316T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252442	NM_006475.3(POSTN):c.887C>T (p.Ala296Val)	POSTN (A296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228904	NM_006475.3(POSTN):c.775A>G (p.Ile259Val)	POSTN (I259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216825	NM_006475.3(POSTN):c.770C>T (p.Ser257Leu)	POSTN (S257L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216824	NM_006475.3(POSTN):c.722T>C (p.Ile241Thr)	POSTN (I241T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308932	NM_006475.3(POSTN):c.682C>T (p.Arg228Cys)	POSTN (R228C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216823	NM_006475.3(POSTN):c.677T>C (p.Ile226Thr)	POSTN (I226T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396277	NM_006475.3(POSTN):c.665T>G (p.Val222Gly)	POSTN (V222G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216822	NM_006475.3(POSTN):c.617T>C (p.Val206Ala)	POSTN (V206A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616787	NM_006475.3(POSTN):c.599C>T (p.Pro200Leu)	POSTN (P200L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532623	NM_006475.3(POSTN):c.446T>C (p.Ile149Thr)	POSTN (I149T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553260	NM_006475.3(POSTN):c.410C>T (p.Pro137Leu)	POSTN (P137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492703	NM_006475.3(POSTN):c.379G>A (p.Glu127Lys)	POSTN (E127K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779644	NM_006475.3(POSTN):c.369G>A (p.Arg123=)	POSTN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2473767	NM_006475.3(POSTN):c.355G>A (p.Ala119Thr)	POSTN (A119T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216821	NM_006475.3(POSTN):c.295G>A (p.Asp99Asn)	POSTN (D99N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709654	NM_006475.3(POSTN):c.273C>T (p.Gly91=)	POSTN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2554103	NM_006475.3(POSTN):c.267G>A (p.Met89Ile)	POSTN (M89I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274908	NM_006475.3(POSTN):c.220A>T (p.Thr74Ser)	POSTN (T74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356069	NM_006475.3(POSTN):c.190T>C (p.Tyr64His)	POSTN (Y64H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292258	NM_006475.3(POSTN):c.122C>T (p.Pro41Leu)	POSTN (P41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308933	NM_006475.3(POSTN):c.79A>C (p.Lys27Gln)	POSTN (K27Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308934	NM_006475.3(POSTN):c.70C>T (p.His24Tyr)	POSTN (H24Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3244229	NC_000013.10:g.(?_36878502)_(40325230_?)dup	ALG5, CCNA1 +16 more	Duplication	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 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	ITM2B, KBTBD6 +119 more	Copy number loss	not provided	GPathogenic
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 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 more	Copy number loss	not specified	GPathogenic
Select item 1527765	GRCh37/hg19 13q13.3(chr13:36064105-39230796)x1	ALG5, CCDC169 +15 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 1340435	GRCh37/hg19 13q13.3(chr13:37464566-38493263)x3	ALG5, CSNK1A1L +5 more	Copy number gain	not provided	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 815580	GRCh37/hg19 13q13.3(chr13:37730506-38751741)x3	POSTN, TRPC4	Copy number gain	not provided	GLikely benign
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic

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