ClinVar for Gene (Select 10598) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278848	NM_012111.3(AHSA1):c.49G>A (p.Ala17Thr)	AHSA1 (A17T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278838	NM_012111.3(AHSA1):c.556C>T (p.Arg186Cys)	AHSA1 (R51C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244101	NC_000014.8:g.(?_76173946)_(78082922_?)dup	AHSA1, ANGEL1 +20 more	Duplication	not provided	GUncertain significance
Select item 3102373	NM_012111.3(AHSA1):c.988A>T (p.Thr330Ser)	AHSA1 (T330S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102361	NM_012111.3(AHSA1):c.661G>A (p.Glu221Lys)	AHSA1 (E221K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102343	NM_012111.3(AHSA1):c.100A>C (p.Asn34His)	AHSA1 (N34H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	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	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2622480	NM_012111.3(AHSA1):c.641C>A (p.Thr214Asn)	AHSA1 (T79N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617535	NM_012111.3(AHSA1):c.275C>T (p.Thr92Ile)	AHSA1 (T92I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2591092	NM_012111.3(AHSA1):c.694G>T (p.Val232Leu)	AHSA1 (V97L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490211	NM_012111.3(AHSA1):c.961C>T (p.Arg321Trp)	AHSA1 (R186W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477401	NM_012111.3(AHSA1):c.286G>A (p.Gly96Arg)	AHSA1 (G96R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2426709	NC_000014.8:g.(?_77893959)_(78082922_?)del	AHSA1, ISM2 +2 more	Deletion	not provided	GPathogenic
Select item 2326682	NM_012111.3(AHSA1):c.949C>G (p.Gln317Glu)	AHSA1 (Q317E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320054	NM_012111.3(AHSA1):c.805C>T (p.His269Tyr)	AHSA1 (H134Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232098	NM_012111.3(AHSA1):c.286G>C (p.Gly96Arg)	AHSA1 (G96R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
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 1527828	GRCh37/hg19 14q24.3(chr14:77862909-78274607)	ADCK1, AHSA1 +8 more	Copy number gain	not specified	GUncertain significance
Select item 1446699	NC_000014.8:g.(?_77743719)_(78082922_?)del	AHSA1, GSTZ1 +7 more	Deletion	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 790280	NM_012111.3(AHSA1):c.398T>C (p.Val133Ala)	AHSA1 (V133A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 773558	NM_012111.3(AHSA1):c.561+5A>G	AHSA1	Single nucleotide variant (intron variant)	not provided	GBenign
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 662860	NC_000014.8:g.(?_77743699)_(78082942_?)dup	ISM2, AHSA1 +25 more	Duplication	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 564107	GRCh37/hg19 14q24.3(chr14:77906706-78161647)x3	ALKBH1, SPTLC2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +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	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 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 +1204 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	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 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: 38