SAMD15[gene] - ClinVar

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Items: 52

	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 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	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 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	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 148347	GRCh38/hg38 14q24.3-31.1(chr14:77193005-80476132)x1	ADCK1, AHSA1 +72 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 662860	NC_000014.8:g.(?_77743699)_(78082942_?)dup	ISM2, AHSA1 +25 more	Duplication	Neuropathy, hereditary sensory and autonomic, type 1C	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 2298978	NM_001010860.4(SAMD15):c.29C>G (p.Ser10Cys)	SAMD15 (S10C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3157652	NM_001010860.4(SAMD15):c.112G>A (p.Asp38Asn)	SAMD15 (D38N)	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 3157654	NM_001010860.4(SAMD15):c.134C>T (p.Ser45Leu)	SAMD15 (S45L)	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 3157660	NM_001010860.4(SAMD15):c.221A>T (p.Asn74Ile)	SAMD15 (N74I)	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 2292770	NM_001010860.4(SAMD15):c.286C>T (p.Pro96Ser)	SAMD15 (P96S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3157663	NM_001010860.4(SAMD15):c.352T>G (p.Phe118Val)	SAMD15 (F118V)	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 2364480	NM_001010860.4(SAMD15):c.524C>G (p.Thr175Arg)	SAMD15 (T175R)	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 2373834	NM_001010860.4(SAMD15):c.712C>T (p.Pro238Ser)	SAMD15 (P238S)	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 2296542	NM_001010860.4(SAMD15):c.793C>A (p.Leu265Met)	SAMD15 (L265M)	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 3157666	NM_001010860.4(SAMD15):c.865C>G (p.Pro289Ala)	SAMD15 (P289A)	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 3157667	NM_001010860.4(SAMD15):c.936T>G (p.Phe312Leu)	SAMD15 (F312L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2378432	NM_001010860.4(SAMD15):c.1325G>A (p.Arg442His)	SAMD15 (R442H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3157655	NM_001010860.4(SAMD15):c.1522G>A (p.Val508Ile)	SAMD15 (V508I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3316089	NM_001010860.4(SAMD15):c.1693T>G (p.Cys565Gly)	SAMD15 (C565G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3157658	NM_001010860.4(SAMD15):c.1808A>G (p.Gln603Arg)	SAMD15 (Q603R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2279799	NM_001010860.4(SAMD15):c.1843C>T (p.Arg615Cys)	SAMD15 (R615C)	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 3244101	NC_000014.8:g.(?_76173946)_(78082922_?)dup	AHSA1, ANGEL1 +20 more	Duplication	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 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 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

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Items: 52