ClinVar for Gene (Select 283659) - ClinVar

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Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310761	NM_173814.6(PRTG):c.3109A>G (p.Ile1037Val)	PRTG (I1037V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310760	NM_173814.6(PRTG):c.83G>C (p.Ser28Thr)	PRTG (S28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310759	NM_173814.6(PRTG):c.1583G>A (p.Arg528Gln)	PRTG (R528Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310758	NM_173814.6(PRTG):c.1277A>G (p.His426Arg)	PRTG (H426R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310757	NM_173814.6(PRTG):c.2126C>T (p.Pro709Leu)	PRTG (P709L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310756	NM_173814.6(PRTG):c.471G>T (p.Lys157Asn)	PRTG (K157N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310754	NM_173814.6(PRTG):c.3160T>G (p.Phe1054Val)	PRTG (F1054V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310753	NM_173814.6(PRTG):c.644A>G (p.Lys215Arg)	PRTG (K215R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250509	NM_173814.6(PRTG):c.676+8del	PRTG	Deletion (intron variant)	not provided	GLikely benign
Select item 3219987	NM_173814.6(PRTG):c.515G>A (p.Arg172Gln)	PRTG (R172Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219985	NM_173814.6(PRTG):c.3130A>G (p.Ile1044Val)	PRTG (I1044V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219984	NM_173814.6(PRTG):c.3049T>A (p.Ser1017Thr)	PRTG (S1017T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219983	NM_173814.6(PRTG):c.2201C>T (p.Thr734Ile)	PRTG (T734I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219982	NM_173814.6(PRTG):c.2152A>G (p.Met718Val)	PRTG (M718V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219981	NM_173814.6(PRTG):c.2150G>C (p.Arg717Pro)	PRTG (R717P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219980	NM_173814.6(PRTG):c.1690A>G (p.Ile564Val)	PRTG (I564V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219979	NM_173814.6(PRTG):c.1568T>A (p.Ile523Asn)	PRTG (I523N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219977	NM_173814.6(PRTG):c.1477A>G (p.Ile493Val)	PRTG (I493V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219976	NM_173814.6(PRTG):c.1019G>A (p.Arg340Gln)	PRTG (R340Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	ADAM10, ALDH1A2 +35 more	Copy number loss	not provided	GPathogenic
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2645369	NM_173814.6(PRTG):c.1056A>C (p.Gly352=)	PRTG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610592	NM_173814.6(PRTG):c.1343A>G (p.Lys448Arg)	PRTG (K448R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596972	NM_173814.6(PRTG):c.482A>G (p.His161Arg)	PRTG (H161R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554008	NM_173814.6(PRTG):c.844C>T (p.Arg282Trp)	PRTG (R282W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541699	NM_173814.6(PRTG):c.659C>T (p.Ser220Leu)	PRTG (S220L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537757	NM_173814.6(PRTG):c.445G>A (p.Gly149Ser)	PRTG (G149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529399	NM_173814.6(PRTG):c.2087T>C (p.Ile696Thr)	PRTG (I696T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528006	NM_173814.6(PRTG):c.715G>A (p.Ala239Thr)	PRTG (A239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508407	NM_173814.6(PRTG):c.2168C>A (p.Pro723Gln)	PRTG (P723Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495613	NM_173814.6(PRTG):c.142G>C (p.Val48Leu)	PRTG (V48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491973	NM_173814.6(PRTG):c.2168C>G (p.Pro723Arg)	PRTG (P723R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478448	NM_173814.6(PRTG):c.2428G>A (p.Val810Ile)	PRTG (V810I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411900	NM_173814.6(PRTG):c.2470G>C (p.Val824Leu)	PRTG (V824L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411115	NM_173814.6(PRTG):c.1522G>T (p.Val508Leu)	PRTG (V508L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410138	NM_173814.6(PRTG):c.2828T>A (p.Leu943Gln)	PRTG (L943Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405115	NM_173814.6(PRTG):c.1141G>A (p.Val381Ile)	PRTG (V381I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399577	NM_173814.6(PRTG):c.2027C>T (p.Thr676Ile)	PRTG (T676I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391714	NM_173814.6(PRTG):c.424A>G (p.Ile142Val)	PRTG (I142V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2388416	NM_173814.6(PRTG):c.3061A>G (p.Met1021Val)	PRTG (M1021V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378276	NM_173814.6(PRTG):c.1102C>T (p.His368Tyr)	PRTG (H368Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375329	NM_173814.6(PRTG):c.638G>A (p.Arg213Gln)	PRTG (R213Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367652	NM_173814.6(PRTG):c.1144A>G (p.Ile382Val)	PRTG (I382V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360979	NM_173814.6(PRTG):c.2090A>T (p.Asp697Val)	PRTG (D697V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360978	NM_173814.6(PRTG):c.2089G>T (p.Asp697Tyr)	PRTG (D697Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358337	NM_173814.6(PRTG):c.2617C>T (p.Arg873Cys)	PRTG (R873C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2345275	NM_173814.6(PRTG):c.2893T>G (p.Cys965Gly)	PRTG (C965G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314811	NM_173814.6(PRTG):c.2911T>G (p.Tyr971Asp)	PRTG (Y971D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313467	NM_173814.6(PRTG):c.1933A>G (p.Thr645Ala)	PRTG (T645A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310817	NM_173814.6(PRTG):c.148G>T (p.Val50Phe)	PRTG (V50F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301094	NM_173814.6(PRTG):c.3064A>G (p.Ile1022Val)	PRTG (I1022V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293750	NM_173814.6(PRTG):c.2068C>T (p.Leu690Phe)	PRTG (L690F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288381	NM_173814.6(PRTG):c.152C>T (p.Thr51Ile)	PRTG (T51I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283958	NM_173814.6(PRTG):c.179G>T (p.Cys60Phe)	PRTG (C60F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279219	NM_173814.6(PRTG):c.1530G>C (p.Gln510His)	PRTG (Q510H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278574	NM_173814.6(PRTG):c.1765G>A (p.Val589Ile)	PRTG (V589I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273164	NM_173814.6(PRTG):c.1916A>T (p.Gln639Leu)	PRTG (Q639L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271143	NM_173814.6(PRTG):c.476C>T (p.Ser159Leu)	PRTG (S159L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247710	NM_173814.6(PRTG):c.436G>A (p.Val146Ile)	PRTG (V146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234012	NM_173814.6(PRTG):c.2958T>A (p.Asn986Lys)	PRTG (N986K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229510	NM_173814.6(PRTG):c.336G>T (p.Gln112His)	PRTG (Q112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225056	NM_173814.6(PRTG):c.2383G>A (p.Val795Ile)	PRTG (V795I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213360	NM_173814.6(PRTG):c.2624G>C (p.Gly875Ala)	PRTG (G875A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809173	GRCh37/hg19 15q21.3(chr15:55346224-55967397)x3	CCPG1, DNAAF4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1703125	NM_173814.6(PRTG):c.3272C>T (p.Ser1091Phe)	PRTG (S1091F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703124	NM_173814.6(PRTG):c.3444del (p.Asn1149fs)	PRTG (N1149fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1684513	NM_173814.6(PRTG):c.1622C>G (p.Pro541Arg)	PRTG (P541R)	Single nucleotide variant (missense variant)	Autism +1 more	GUncertain significance
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1340208	GRCh37/hg19 15q21.3(chr15:55772371-57880518)x1	CGNL1, DNAAF4 +8 more	Copy number loss	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980047	GRCh37/hg19 15q21.3(chr15:55797842-55943656)x1	PYGO1, PRTG +1 more	Copy number loss	not provided	GUncertain significance
Select item 980044	GRCh37/hg19 15q21.3(chr15:55878085-56013263)x1	PRTG, PYGO1	Copy number loss	not provided	GLikely benign
Select item 791370	NM_173814.6(PRTG):c.1755T>C (p.Ser585=)	PRTG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770433	NM_173814.6(PRTG):c.1906G>C (p.Val636Leu)	PRTG (V636L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688584	GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3	AP4E1, ARPP19 +47 more	Copy number gain	not provided	GPathogenic
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564202	GRCh37/hg19 15q21.2-21.3(chr15:50727285-57603305)x3	LYSMD2, ARPP19 +36 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395569	GRCh37/hg19 15q21.3(chr15:55562495-55930392)x3	CCPG1, DNAAF4 +5 more	Copy number gain	See cases	GUncertain significance
Select item 395193	GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1	ADAM10, ALDH1A2 +37 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 226247	GRCh37/hg19 15q21.3(chr15:55354493-55956320)	RAB27A, PYGO1 +6 more	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 151013	GRCh38/hg38 15q21.3(chr15:54998301-55749136)x3	CCPG1, DNAAF4 +28 more	Copy number gain	See cases	GUncertain significance
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 58571	GRCh38/hg38 15q21.3(chr15:55279032-55622007)x3	CCPG1, DNAAF4 +23 more	Copy number gain	See cases	GPathogenic
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic

ClinVar

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Links from Gene

Items: 91