ClinVar for Gene (Select 3895) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338471	GRCh37/hg19 14q22.2-22.3(chr14:54866611-57272174)x1	ATG14, CDKN3 +16 more	Copy number loss	Syndromic microphthalmia type 5	GLikely pathogenic
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 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
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 2644255	NM_001079521.2(KTN1):c.3720A>G (p.Lys1240=)	KTN1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 815659	GRCh37/hg19 14q22.3(chr14:55615073-58043694)x1	ATG14, FBXO34 +11 more	Copy number loss	not provided	GPathogenic
Select item 781988	NM_001079521.2(KTN1):c.3920T>C (p.Ile1307Thr)	KTN1 (I1250T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 781987	NM_001079521.2(KTN1):c.1092A>C (p.Thr364=)	KTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 779682	NM_001079521.2(KTN1):c.1060C>A (p.Arg354=)	KTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 777874	NM_001079521.2(KTN1):c.2207+6A>G	KTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 769861	NM_001079521.2(KTN1):c.694A>G (p.Thr232Ala)	KTN1 (T232A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 768655	NM_001079521.2(KTN1):c.3423C>T (p.Ser1141=)	KTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 736860	NM_001079521.2(KTN1):c.3047A>G (p.Asp1016Gly)	KTN1 (D993G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 710035	NM_001079521.2(KTN1):c.1999G>C (p.Glu667Gln)	KTN1 (E667Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 710034	NM_001079521.2(KTN1):c.1791C>T (p.Ser597=)	KTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	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
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 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
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 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 23