SAMD5[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 57320	GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1	LOC132089373, LOC132090771 +172 more	Copy number loss	See cases	GPathogenic
Select item 2256667	NM_001030060.3(SAMD5):c.212G>T (p.Gly71Val)	SAMD5 (G71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324791	NM_001030060.3(SAMD5):c.220T>C (p.Phe74Leu)	SAMD5 (F74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489165	NM_001030060.3(SAMD5):c.232C>A (p.Pro78Thr)	SAMD5 (P78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293614	NM_001030060.3(SAMD5):c.233C>T (p.Pro78Leu)	SAMD5 (P78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157694	NM_001030060.3(SAMD5):c.269T>G (p.Val90Gly)	SAMD5 (V90G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289947	NM_001030060.3(SAMD5):c.280C>T (p.Arg94Cys)	SAMD5 (R94C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251456	NM_001030060.3(SAMD5):c.281G>T (p.Arg94Leu)	SAMD5 (R94L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492523	NM_001030060.3(SAMD5):c.302G>A (p.Gly101Asp)	SAMD5 (G101D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316102	NM_001030060.3(SAMD5):c.358A>G (p.Arg120Gly)	SAMD5 (R120G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157695	NM_001030060.3(SAMD5):c.380A>G (p.Lys127Arg)	SAMD5 (K127R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350328	NM_001030060.3(SAMD5):c.393G>T (p.Lys131Asn)	SAMD5 (K131N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245693	NM_001030060.3(SAMD5):c.405G>T (p.Arg135Ser)	SAMD5 (R135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284496	NM_001030060.3(SAMD5):c.442C>G (p.Pro148Ala)	SAMD5 (P148A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361198	NM_001030060.3(SAMD5):c.443C>T (p.Pro148Leu)	SAMD5 (P148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157696	NM_001030060.3(SAMD5):c.445C>T (p.Pro149Ser)	SAMD5 (P149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596832	NM_001030060.3(SAMD5):c.446C>G (p.Pro149Arg)	SAMD5 (P149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349471	NM_001030060.3(SAMD5):c.518G>A (p.Arg173His)	SAMD5 (R173H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149317	GRCh38/hg38 6q24.3-25.1(chr6:147580351-150227963)x3	GINM1, KATNA1 +107 more	Copy number gain	See cases	GUncertain significance
Select item 146082	GRCh38/hg38 6q24.3-25.1(chr6:147805119-150893715)x1	GINM1, IYD +131 more	Copy number loss	See cases	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 1809122	GRCh37/hg19 6q24.3(chr6:147795524-148068065)x3	SAMD5	Copy number gain	not provided	GUncertain significance
Select item 1527302	GRCh37/hg19 6q24.2-24.3(chr6:145449900-148319443)	ADGB, EPM2A +6 more	Copy number gain	not specified	GUncertain significance
Select item 563240	GRCh37/hg19 6q24.2-25.1(chr6:144947731-150266155)x1	ADGB, EPM2A +22 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442470	GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1	ADAT2, ADGB +42 more	Copy number loss	See cases	GPathogenic
Select item 394905	GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1	ADGB, AKAP12 +42 more	Copy number loss	See cases	GPathogenic
Select item 394473	GRCh37/hg19 6q24.3(chr6:147414837-148054286)x3	SAMD5, STXBP5	Copy number gain	See cases	GUncertain significance

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Items: 33