25081[HGNC] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 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 657383	NC_000016.10:g.(?_3727698)_(4802591_?)del	LOC130058360, LOC130058361 +66 more	Deletion	Rubinstein-Taybi syndrome	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 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 3083370	NM_139170.3(DNAAF8):c.58A>G (p.Met20Val)	DNAAF8 (M20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083366	NM_139170.3(DNAAF8):c.205C>G (p.Leu69Val)	DNAAF8 (L69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083367	NM_139170.3(DNAAF8):c.324G>C (p.Gln108His)	DNAAF8 (Q108H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083368	NM_139170.3(DNAAF8):c.435G>C (p.Arg145Ser)	DNAAF8 (R145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083369	NM_139170.3(DNAAF8):c.442G>A (p.Glu148Lys)	DNAAF8 (E148K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	CORO7, KREMEN2 +52 more	Copy number loss	not provided	GPathogenic
Select item 2684779	GRCh37/hg19 16p13.3(chr16:4462897-5172225)x3	ALG1, ANKS3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2425098	NC_000016.9:g.(?_3293141)_(5971108_?)dup	C16orf89, ADCY9 +45 more	Duplication	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	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	CORO7-PAM16, CREBBP +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 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	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +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	ABCC6, BCL7C +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

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Items: 40