ClinVar for Gene (Select 124402) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3185434	NM_145253.3(UBALD1):c.517A>G (p.Met173Val)	UBALD1 (M148V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185433	NM_145253.3(UBALD1):c.454G>A (p.Ala152Thr)	UBALD1 (A127T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185432	NM_145253.3(UBALD1):c.415C>A (p.Pro139Thr)	UBALD1 (P114T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185431	NM_145253.3(UBALD1):c.400C>T (p.Pro134Ser)	UBALD1 (P134S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185430	NM_145253.3(UBALD1):c.359C>T (p.Ala120Val)	UBALD1 (A95V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185429	NM_145253.3(UBALD1):c.227C>T (p.Pro76Leu)	UBALD1 (P76L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	UBALD1, VASN +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 2601780	NM_145253.3(UBALD1):c.323C>T (p.Pro108Leu)	UBALD1 (P108L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470868	NM_145253.3(UBALD1):c.380C>T (p.Ala127Val)	UBALD1 (A102V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464685	NM_145253.3(UBALD1):c.391C>G (p.Pro131Ala)	UBALD1 (P131A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2369818	NM_145253.3(UBALD1):c.392C>T (p.Pro131Leu)	UBALD1 (P106L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363183	NM_145253.3(UBALD1):c.186G>A (p.Met62Ile)	UBALD1 (M62I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286515	NM_145253.3(UBALD1):c.231C>G (p.Asp77Glu)	UBALD1 (D77E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206403	NM_145253.3(UBALD1):c.305C>T (p.Ala102Val)	UBALD1 (A77V +1 more)	Single nucleotide variant (missense variant)	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 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 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 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

ClinVar

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Links from Gene

Items: 50