ClinVar for Gene (Select 22938) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684739	GRCh37/hg19 14q24.3(chr14:78152921-78505776)x3	ADCK1, ALKBH1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684738	GRCh37/hg19 14q24.3-31.1(chr14:78078206-79605613)x3	ADCK1, ALKBH1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684737	GRCh37/hg19 14q24.3(chr14:77885734-78292290)x3	ADCK1, AHSA1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2613708	NM_012245.3(SNW1):c.1090C>G (p.Gln364Glu)	SNW1 (Q364E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510033	NM_012245.3(SNW1):c.1208A>G (p.Asn403Ser)	SNW1 (N403S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476641	NM_012245.3(SNW1):c.912G>A (p.Met304Ile)	SNW1 (M304I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351630	NM_012245.3(SNW1):c.1154A>G (p.Asn385Ser)	SNW1 (N385S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339641	NM_012245.3(SNW1):c.295G>A (p.Asp99Asn)	SNW1 (D99N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335181	NM_012245.3(SNW1):c.293A>C (p.Tyr98Ser)	SNW1 (Y98S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282095	NM_012245.3(SNW1):c.830C>T (p.Thr277Ile)	SNW1 (T277I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277103	NM_012245.3(SNW1):c.192T>G (p.Phe64Leu)	SNW1 (F64L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241304	NM_012245.3(SNW1):c.606G>A (p.Met202Ile)	SNW1 (M202I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221434	NM_012245.3(SNW1):c.475G>A (p.Val159Ile)	SNW1 (V159I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1527828	GRCh37/hg19 14q24.3(chr14:77862909-78274607)	ADCK1, AHSA1 +8 more	Copy number gain	not specified	GUncertain significance
Select item 980613	GRCh37/hg19 14q24.3-31.1(chr14:78075661-79605863)x4	SNW1, SLIRP +4 more	Copy number gain	not provided	GUncertain significance
Select item 686858	GRCh37/hg19 14q24.3-32.11(chr14:77274990-89803137)x1	ADCK1, AHSA1 +35 more	Copy number loss	not provided	GPathogenic
Select item 546746	NM_012245.3(SNW1):c.584G>T (p.Arg195Met)	SNW1 (R195M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 441709	GRCh37/hg19 14q24.3(chr14:76082940-78372356)x1	ADCK1, AHSA1 +27 more	Copy number loss	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 394003	GRCh37/hg19 14q24.3(chr14:78146198-78205077)x3	ALKBH1, SLIRP +1 more	Copy number gain	See cases	GBenign
Select item 393987	GRCh37/hg19 14q24.3-31.1(chr14:78146198-79579214)x3	ADCK1, ALKBH1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253941	GRCh37/hg19 14q24.3(chr14:78146198-78504237)x3	SNW1, C14orf178 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253839	GRCh37/hg19 14q24.3-31.1(chr14:78146198-79579273)x4	ADCK1, C14orf178 +3 more	Copy number gain	See cases	GUncertain significance
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 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 148347	GRCh38/hg38 14q24.3-31.1(chr14:77193005-80476132)x1	ADCK1, AHSA1 +72 more	Copy number loss	See cases	GLikely pathogenic
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 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	ABCD4, ACOT1 +503 more	Copy number loss	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 41