ClinVar for Gene (Select 161394) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316089	NM_001010860.4(SAMD15):c.1693T>G (p.Cys565Gly)	SAMD15 (C565G)	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 3157667	NM_001010860.4(SAMD15):c.936T>G (p.Phe312Leu)	SAMD15 (F312L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3157666	NM_001010860.4(SAMD15):c.865C>G (p.Pro289Ala)	SAMD15 (P289A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157665	NM_001010860.4(SAMD15):c.758G>C (p.Arg253Thr)	SAMD15 (R253T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157664	NM_001010860.4(SAMD15):c.602A>G (p.His201Arg)	SAMD15 (H201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157663	NM_001010860.4(SAMD15):c.352T>G (p.Phe118Val)	SAMD15 (F118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157662	NM_001010860.4(SAMD15):c.289A>G (p.Ser97Gly)	SAMD15 (S97G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157661	NM_001010860.4(SAMD15):c.256G>A (p.Gly86Arg)	SAMD15 (G86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157660	NM_001010860.4(SAMD15):c.221A>T (p.Asn74Ile)	SAMD15 (N74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157659	NM_001010860.4(SAMD15):c.1877G>A (p.Gly626Asp)	SAMD15 (G626D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157658	NM_001010860.4(SAMD15):c.1808A>G (p.Gln603Arg)	SAMD15 (Q603R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3157657	NM_001010860.4(SAMD15):c.1726C>T (p.Leu576Phe)	SAMD15 (L576F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157656	NM_001010860.4(SAMD15):c.170C>T (p.Pro57Leu)	SAMD15 (P57L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157655	NM_001010860.4(SAMD15):c.1522G>A (p.Val508Ile)	SAMD15 (V508I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157654	NM_001010860.4(SAMD15):c.134C>T (p.Ser45Leu)	SAMD15 (S45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157653	NM_001010860.4(SAMD15):c.1177G>A (p.Glu393Lys)	SAMD15 (E393K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157652	NM_001010860.4(SAMD15):c.112G>A (p.Asp38Asn)	SAMD15 (D38N)	Single nucleotide variant (missense variant)	not specified	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 2598753	NM_001010860.4(SAMD15):c.1535A>G (p.Glu512Gly)	SAMD15 (E512G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536842	NM_001010860.4(SAMD15):c.130G>T (p.Asp44Tyr)	SAMD15 (D44Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473253	NM_001010860.4(SAMD15):c.376A>G (p.Met126Val)	SAMD15 (M126V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2405416	NM_001010860.4(SAMD15):c.1415T>C (p.Ile472Thr)	SAMD15 (I472T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378432	NM_001010860.4(SAMD15):c.1325G>A (p.Arg442His)	SAMD15 (R442H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373834	NM_001010860.4(SAMD15):c.712C>T (p.Pro238Ser)	SAMD15 (P238S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371275	NM_001010860.4(SAMD15):c.849G>C (p.Glu283Asp)	SAMD15 (E283D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364480	NM_001010860.4(SAMD15):c.524C>G (p.Thr175Arg)	SAMD15 (T175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357718	NM_001010860.4(SAMD15):c.920G>A (p.Arg307Gln)	SAMD15 (R307Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2328100	NM_001010860.4(SAMD15):c.110C>T (p.Pro37Leu)	SAMD15 (P37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298978	NM_001010860.4(SAMD15):c.29C>G (p.Ser10Cys)	SAMD15 (S10C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296542	NM_001010860.4(SAMD15):c.793C>A (p.Leu265Met)	SAMD15 (L265M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292770	NM_001010860.4(SAMD15):c.286C>T (p.Pro96Ser)	SAMD15 (P96S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2279799	NM_001010860.4(SAMD15):c.1843C>T (p.Arg615Cys)	SAMD15 (R615C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223797	NM_001010860.4(SAMD15):c.1813C>T (p.Leu605Phe)	SAMD15 (L605F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222537	NM_001010860.4(SAMD15):c.10G>T (p.Val4Phe)	SAMD15 (V4F)	Single nucleotide variant (missense variant)	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 1446699	NC_000014.8:g.(?_77743719)_(78082922_?)del	AHSA1, GSTZ1 +7 more	Deletion	Neuropathy, hereditary sensory and autonomic, type 1C	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 662860	NC_000014.8:g.(?_77743699)_(78082942_?)dup	ISM2, AHSA1 +25 more	Duplication	Neuropathy, hereditary sensory and autonomic, type 1C	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 52