7627[Gene ID] - ClinVar

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Items: 66

	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 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 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 58620	GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3	ADCY9, BICDL2 +180 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 151030	GRCh38/hg38 16p13.3(chr16:3061267-3666094)x3	C16orf90, CLUAP1 +101 more	Copy number gain	See cases	GUncertain significance
Select item 149298	GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3	ADCY9, C16orf90 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 2405309	NM_001302109.2(ZNF75A):c.892G>A (p.Val298Ile)	ZNF75A (V57I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2594683	NM_001302109.2(ZNF75A):c.899C>T (p.Pro300Leu)	ZNF75A (P59L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2263483	NM_001302109.2(ZNF75A):c.952G>A (p.Asp318Asn)	ZNF75A (D77N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3259419	NM_001302109.2(ZNF75A):c.955A>C (p.Thr319Pro)	ZNF75A (T319P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2396219	NM_001302109.2(ZNF75A):c.1012G>A (p.Val338Ile)	ZNF75A (V338I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3198126	NM_001302109.2(ZNF75A):c.1037A>G (p.Lys346Arg)	ZNF75A (K105R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2396078	NM_001302109.2(ZNF75A):c.1054G>A (p.Ala352Thr)	ZNF75A (A352T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2302678	NM_001302109.2(ZNF75A):c.1146A>T (p.Lys382Asn)	ZNF75A (K141N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238189	NM_001302109.2(ZNF75A):c.1157T>C (p.Leu386Pro)	ZNF75A (L145P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269713	NM_001302109.2(ZNF75A):c.1165A>G (p.Met389Val)	ZNF75A (M30V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299664	NM_001302109.2(ZNF75A):c.1171C>T (p.Arg391Cys)	ZNF75A (R150C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198127	NM_001302109.2(ZNF75A):c.1195G>C (p.Glu399Gln)	ZNF75A (E158Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259418	NM_001302109.2(ZNF75A):c.1363A>G (p.Ile455Val)	ZNF75A (I455V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259421	NM_001302109.2(ZNF75A):c.1373A>T (p.Tyr458Phe)	ZNF75A (Y217F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198128	NM_001302109.2(ZNF75A):c.1421A>G (p.His474Arg)	ZNF75A (H115R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242703	NM_001302109.2(ZNF75A):c.1487G>A (p.Ser496Asn)	ZNF75A (S137N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400784	NM_001302109.2(ZNF75A):c.1513C>T (p.Arg505Trp)	ZNF75A (R505W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3063409	GRCh37/hg19 16p13.3(chr16:3112024-3506789)x3	IL32, MEFV +14 more	Copy number gain	not specified	GUncertain significance
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	CORO7, CORO7-PAM16 +52 more	Copy number loss	not provided	GPathogenic
Select item 2685542	GRCh37/hg19 16p13.3(chr16:3320855-3392971)x1	TIGD7, ZNF263 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685541	GRCh37/hg19 16p13.3(chr16:3282468-3467436)x1	MEFV, MTRNR2L4 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2684776	GRCh37/hg19 16p13.3(chr16:2643569-3716657)x3	BICDL2, C16orf90 +42 more	Copy number gain	not provided	GUncertain significance
Select item 2684774	GRCh37/hg19 16p13.3(chr16:2606711-3935836)x3	BICDL2, C16orf90 +43 more	Copy number gain	not provided	GPathogenic
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 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1455963	NC_000016.9:g.(?_3293141)_(3929917_?)del	C16orf90, CLUAP1 +15 more	Deletion	Rubinstein-Taybi syndrome	GPathogenic
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 815770	GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3	ADCY9, BICDL2 +56 more	Copy number gain	not provided	GPathogenic
Select item 689245	GRCh37/hg19 16p13.3(chr16:3112024-3738078)x3	C16orf90, CLUAP1 +20 more	Copy number gain	not provided	GUncertain significance
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 624543	GRCh37/hg19 16p13.3(chr16:3219476-3378736)x3	MEFV, OR1F1 +4 more	Copy number gain	not provided	GLikely benign
Select item 564259	GRCh37/hg19 16p13.3(chr16:3265427-3731182)x3	NAA60, MTRNR2L4 +15 more	Copy number gain	not provided	GUncertain significance
Select item 564258	GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3	ADCY9, BICDL2 +51 more	Copy number gain	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 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 442735	GRCh37/hg19 16p13.3(chr16:2606710-3382546)x3	BICDL2, CLDN6 +30 more	Copy number gain	See cases	GUncertain significance
Select item 442459	GRCh37/hg19 16p13.3(chr16:2891391-4440397)x3	ADCY9, BICDL2 +42 more	Copy number gain	See cases	GUncertain significance
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 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 253768	GRCh37/hg19 16p13.3(chr16:3273336-3361764)x3	ZNF263, ZNF200 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253729	GRCh37/hg19 16p13.3(chr16:3104050-3722491)x3	C16orf90, CLUAP1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 253470	GRCh37/hg19 16p13.3(chr16:2867891-3942436)x3	BICDL2, C16orf90 +36 more	Copy number gain	See cases	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: 66