CNIH1[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +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	LOC130055670, LOC130055671 +89 more	Copy number loss	Dystonia 5	GPathogenic
Select item 3268131	NM_005776.3(CNIH1):c.409A>G (p.Met137Val)	CNIH1 (M137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146469	NM_005776.3(CNIH1):c.409A>T (p.Met137Leu)	CNIH1 (M137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268130	NM_005776.3(CNIH1):c.281T>C (p.Val94Ala)	CNIH1 (V94A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543657	NM_005776.3(CNIH1):c.244T>G (p.Leu82Val)	CNIH1 (L82V)	Single nucleotide variant (missense variant)	not specified	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	GTP cyclohydrolase I deficiency +1 more	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +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	ISCA2, TMEM30B +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)	GTF2A1, GZMB +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	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 22