DRAM1[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 3085702	NM_018370.3(DRAM1):c.110A>T (p.Asn37Ile)	DRAM1 (N37I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322520	NM_018370.3(DRAM1):c.118C>T (p.Leu40Phe)	DRAM1 (L40F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085703	NM_018370.3(DRAM1):c.137C>T (p.Thr46Met)	DRAM1 (T46M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472672	NM_018370.3(DRAM1):c.187T>G (p.Ser63Ala)	DRAM1 (S63A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474536	NM_018370.3(DRAM1):c.251C>A (p.Thr84Asn)	DRAM1 (T84N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474350	NM_018370.3(DRAM1):c.316G>A (p.Gly106Arg)	DRAM1 (G106R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543392	NM_018370.3(DRAM1):c.409A>G (p.Thr137Ala)	DRAM1 (T137A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511297	NM_018370.3(DRAM1):c.451T>G (p.Trp151Gly)	DRAM1 (W151G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314932	NM_018370.3(DRAM1):c.505G>A (p.Ala169Thr)	DRAM1 (A169T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466930	NM_018370.3(DRAM1):c.556C>A (p.Leu186Met)	DRAM1 (L186M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606810	NM_018370.3(DRAM1):c.560A>C (p.Glu187Ala)	DRAM1 (E187A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085704	NM_018370.3(DRAM1):c.595G>A (p.Val199Ile)	DRAM1 (V199I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085705	NM_018370.3(DRAM1):c.704A>G (p.Asn235Ser)	DRAM1 (N235S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063248	GRCh37/hg19 12q23.2(chr12:102012266-102738384)x3	CHPT1, DRAM1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 1527727	GRCh37/hg19 12q23.1-23.2(chr12:100564593-103021075)	ACTR6, ANO4 +19 more	Copy number loss	not specified	GUncertain significance
Select item 815550	GRCh37/hg19 12q23.2(chr12:101953283-102683945)x1	PARPBP, CHPT1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 687657	GRCh37/hg19 12q23.2(chr12:102116591-102607083)x3	CHPT1, DRAM1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 686626	GRCh37/hg19 12q23.1-23.2(chr12:101447925-102593349)x3	ANO4, ARL1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 24