ClinVar for Gene (Select 23295) - ClinVar

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Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3125988	NM_015246.4(MGRN1):c.796C>T (p.Pro266Ser)	MGRN1 (P266S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125987	NM_015246.4(MGRN1):c.586G>A (p.Val196Met)	MGRN1 (V196M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125985	NM_015246.4(MGRN1):c.386G>A (p.Arg129His)	MGRN1 (R129H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125983	NM_015246.4(MGRN1):c.1670C>T (p.Thr557Ile)	MGRN1 (T535I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3125982	NM_015246.4(MGRN1):c.1654G>A (p.Ala552Thr)	MGRN1 (A552T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3125981	NM_015246.4(MGRN1):c.1643C>A (p.Ala548Asp)	MGRN1 (A526D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3125980	NM_015246.4(MGRN1):c.1361C>A (p.Thr454Asn)	MGRN1 (T432N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125978	NM_015246.4(MGRN1):c.1226C>T (p.Pro409Leu)	MGRN1 (P409L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125977	NM_015246.4(MGRN1):c.1147C>G (p.Pro383Ala)	MGRN1 (P383A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125976	NM_015246.4(MGRN1):c.1030G>A (p.Val344Ile)	MGRN1 (V344I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	ADCY9, ANKS3 +52 more	Copy number loss	not provided	GPathogenic
Select item 2685548	GRCh37/hg19 16p13.3(chr16:4615281-4696628)x1	C16orf96, MGRN1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2684779	GRCh37/hg19 16p13.3(chr16:4462897-5172225)x3	ALG1, ANKS3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2646156	NM_015246.4(MGRN1):c.1713C>T (p.Ala571=)	MGRN1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2646155	NM_015246.4(MGRN1):c.849C>T (p.Ser283=)	MGRN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646154	NM_015246.4(MGRN1):c.657G>C (p.Val219=)	MGRN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2621498	NM_015246.4(MGRN1):c.190G>A (p.Gly64Ser)	MGRN1 (G64S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606169	NM_015246.4(MGRN1):c.1699G>C (p.Asp567His)	MGRN1 (D545H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2599301	NM_015246.4(MGRN1):c.379G>A (p.Asp127Asn)	MGRN1 (D127N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2565896	NM_015246.4(MGRN1):c.1183C>G (p.Leu395Val)	MGRN1 (L395V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555540	NM_015246.4(MGRN1):c.1253G>C (p.Gly418Ala)	MGRN1 (G396A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534485	NM_015246.4(MGRN1):c.1096G>A (p.Ala366Thr)	MGRN1 (A366T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522055	NM_015246.4(MGRN1):c.248C>T (p.Thr83Met)	MGRN1 (T83M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521831	NM_015246.4(MGRN1):c.272G>A (p.Arg91His)	MGRN1 (R91H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517177	NM_015246.4(MGRN1):c.988C>T (p.Arg330Trp)	MGRN1 (R330W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514835	NM_015246.4(MGRN1):c.1330G>T (p.Gly444Cys)	MGRN1 (G444C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508291	NM_015246.4(MGRN1):c.232C>A (p.His78Asn)	MGRN1 (H78N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491467	NM_015246.4(MGRN1):c.1300G>A (p.Asp434Asn)	MGRN1 (D434N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489471	NM_015246.4(MGRN1):c.1367G>A (p.Arg456Gln)	MGRN1 (R434Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481308	NM_015246.4(MGRN1):c.1547T>C (p.Ile516Thr)	MGRN1 (I494T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477637	NM_015246.4(MGRN1):c.172A>G (p.Met58Val)	MGRN1 (M58V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477591	NM_015246.4(MGRN1):c.1087C>G (p.Pro363Ala)	MGRN1 (P363A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469329	NM_015246.4(MGRN1):c.1621C>T (p.Arg541Trp)	MGRN1 (R519W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2425098	NC_000016.9:g.(?_3293141)_(5971108_?)dup	NUDT16L1, MEFV +45 more	Duplication	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	CAPN15, CCDC154 +170 more	Duplication	Hyperaldosteronism, familial, type IV +3 more	GUncertain significance
Select item 2395196	NM_015246.4(MGRN1):c.1337C>T (p.Pro446Leu)	MGRN1 (P446L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382155	NM_015246.4(MGRN1):c.1666C>T (p.Pro556Ser)	MGRN1 (P534S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2356090	NM_015246.4(MGRN1):c.376G>A (p.Ala126Thr)	MGRN1 (A126T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307675	NM_015246.4(MGRN1):c.7T>A (p.Ser3Thr)	LOC112441450, MGRN1 (S3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301692	NM_015246.4(MGRN1):c.1259C>T (p.Ser420Leu)	MGRN1 (S398L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294458	NM_015246.4(MGRN1):c.455A>G (p.Lys152Arg)	MGRN1 (K152R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283417	NM_015246.4(MGRN1):c.313G>A (p.Asp105Asn)	MGRN1 (D105N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277726	NM_015246.4(MGRN1):c.580C>G (p.Arg194Gly)	MGRN1 (R194G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277296	NM_015246.4(MGRN1):c.488A>G (p.Tyr163Cys)	MGRN1 (Y163C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276738	NM_015246.4(MGRN1):c.1642G>A (p.Ala548Thr)	MGRN1 (A526T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2269754	NM_015246.4(MGRN1):c.481G>A (p.Val161Ile)	MGRN1 (V161I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268512	NM_015246.4(MGRN1):c.479C>G (p.Thr160Ser)	MGRN1 (T160S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244534	NM_015246.4(MGRN1):c.688G>A (p.Gly230Ser)	MGRN1 (G230S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232957	NM_015246.4(MGRN1):c.625G>A (p.Asp209Asn)	MGRN1 (D209N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228252	NM_015246.4(MGRN1):c.439G>A (p.Ala147Thr)	MGRN1 (A147T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220958	NM_015246.4(MGRN1):c.1331G>A (p.Gly444Asp)	MGRN1 (G422D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213958	NM_015246.4(MGRN1):c.385C>T (p.Arg129Cys)	MGRN1 (R129C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208729	NM_015246.4(MGRN1):c.137C>T (p.Thr46Ile)	MGRN1 (T46I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526484	GRCh37/hg19 16p13.3(chr16:4541805-5813911)	SEPTIN12, SMIM22 +18 more	Copy number gain	not specified	GUncertain significance
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 831384	NC_000016.10:g.(?_3727698)_(4802591_?)dup	ADCY9, ANKS3 +21 more	Duplication	Amelocerebrohypohidrotic syndrome	GUncertain significance
Select item 782014	NM_015246.4(MGRN1):c.141C>A (p.Pro47=)	MGRN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 746793	NM_015246.4(MGRN1):c.1618+9C>G	MGRN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 740869	NM_015246.4(MGRN1):c.1413C>T (p.Ser471=)	MGRN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 736060	NM_015246.4(MGRN1):c.1618+10T>G	MGRN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 685643	GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3	ADCY9, ALG1 +30 more	Copy number gain	not provided	GPathogenic
Select item 657383	NC_000016.10:g.(?_3727698)_(4802591_?)del	ADCY9, LOC130058369 +66 more	Deletion	Rubinstein-Taybi syndrome	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443444	GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1	ADCY9, ALG1 +50 more	Copy number loss	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 395287	GRCh37/hg19 16p13.3(chr16:4740929-4950995)x1	ANKS3, DNAAF8 +9 more	Copy number loss	See cases	GUncertain significance
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 154437	GRCh38/hg38 16p13.3(chr16:3726702-4644961)x3	ADCY9, C16orf96 +51 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 148700	GRCh38/hg38 16p13.3(chr16:3820522-4668347)x1	ADCY9, C16orf96 +49 more	Copy number loss	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 57415	GRCh38/hg38 16p13.3(chr16:4490463-4815780)x1	ANKS3, C16orf96 +30 more	Copy number loss	See cases	GUncertain significance
Select item 57281	GRCh38/hg38 16p13.3(chr16:3710449-4644951)x3	ADCY9, C16orf96 +54 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 91