Related gene-specific medical variations for Gene (Select 401474) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363918	NM_207506.3(SAMD12):c.218C>T (p.Pro73Leu)	LOC126860479, SAMD12 (P73L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3316078	NM_207506.3(SAMD12):c.292A>C (p.Ser98Arg)	LOC126860479, SAMD12 (S98R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3234769	NM_207506.3(SAMD12):c.258G>C (p.Leu86Phe)	LOC126860479, SAMD12 (L86F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3067929	NM_207506.3(SAMD12):c.362G>T (p.Arg121Leu)	SAMD12 (R111L +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 1	GUncertain significance
Select item 2658776	NM_207506.3(SAMD12):c.320C>T (p.Thr107Ile)	LOC126860479, SAMD12 (T107I)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2271222	NM_207506.3(SAMD12):c.292A>T (p.Ser98Cys)	LOC126860479, SAMD12 (R98W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1696749	NM_207506.3(SAMD12):c.13+16544C>A	SAMD12	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 1	GUncertain significance
Select item 1340889	GRCh37/hg19 8q24.11-24.12(chr8:119147746-119622996)x3	SAMD12	Copy number gain	not provided	GUncertain significance
Select item 815160	GRCh37/hg19 8q24.11-24.12(chr8:119145884-119620621)x3	SAMD12	Copy number gain	not provided	GUncertain significance
Select item 560216	SAMD12, 5-BP INS, TTTCA(n) REPEAT EXPANSION, IVS4	SAMD12	Microsatellite	Epilepsy, familial adult myoclonic, 1	GPathogenic
Select item 151540	GRCh38/hg38 8q24.12(chr8:118406090-118413358)x1	SAMD12	Copy number loss	See cases	GLikely benign
Select item 145845	GRCh38/hg38 8q24.11(chr8:118190541-118231528)x3	SAMD12	Copy number gain	See cases	GLikely benign