CNIH1[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	LRR1, MAP4K5 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic
Select item 146623	GRCh38/hg38 14q22.1-22.3(chr14:51544846-55320598)x1	BMP4, CDKN3 +147 more	Copy number loss	See cases	GPathogenic
Select item 3061843	GRCh38/hg38 14q22.2-22.3(chr14:53949639-56297420)x1	CGRRF1, LOC130055695 +89 more	Copy number loss	Dystonia 5	GPathogenic
Select item 2543657	NM_005776.3(CNIH1):c.244T>G (p.Leu82Val)	CNIH1 (L82V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685486	GRCh37/hg19 14q22.2(chr14:54849883-54919181)x1	CDKN3, CNIH1	Copy number loss	not provided	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2422501	NC_000014.8:g.(?_54410919)_(55369403_?)del	BMP4, CDKN3 +5 more	Deletion	Dystonia 5 +1 more	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1527818	GRCh37/hg19 14q22.1-22.3(chr14:53241194-55803026)	BMP4, CDKN3 +15 more	Copy number loss	not specified	GPathogenic
Select item 1455396	NC_000014.8:g.(?_54416750)_(55369403_?)del	BMP4, CDKN3 +5 more	Deletion	Microphthalmia with brain and digit anomalies +1 more	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 564132	GRCh37/hg19 14q22.2-22.3(chr14:54530302-55812050)x3	GCH1, LGALS3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 564130	GRCh37/hg19 14q22.2(chr14:54250363-55362006)x1	GMFB, CDKN3 +5 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 443201	GRCh37/hg19 14q22.1-22.2(chr14:53820659-55003253)x1	BMP4, CDKN3 +3 more	Copy number loss	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic