ClinVar for Gene (Select 4836) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3200846	NM_021079.5(NMT1):c.1061C>G (p.Thr354Ser)	NMT1 (T354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613093	NM_021079.5(NMT1):c.316G>T (p.Ala106Ser)	NMT1 (A106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538577	NM_021079.5(NMT1):c.143C>T (p.Pro48Leu)	NMT1 (P48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521306	NM_021079.5(NMT1):c.1006G>A (p.Ala336Thr)	NMT1 (A336T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475409	NM_021079.5(NMT1):c.229C>A (p.Gln77Lys)	NMT1 (Q77K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474494	NM_021079.5(NMT1):c.995C>G (p.Thr332Ser)	NMT1 (T332S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455982	NM_021079.5(NMT1):c.1205C>T (p.Thr402Met)	NMT1 (T402M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393782	NM_021079.5(NMT1):c.605G>A (p.Arg202Gln)	NMT1 (R202Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384624	NM_021079.5(NMT1):c.1405A>G (p.Ile469Val)	NMT1 (I469V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373789	NM_021079.5(NMT1):c.1093G>A (p.Val365Ile)	NMT1 (V365I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276102	NM_021079.5(NMT1):c.218C>T (p.Ser73Leu)	NMT1 (S73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274176	NM_021079.5(NMT1):c.871G>A (p.Val291Ile)	NMT1 (V291I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220336	NM_021079.5(NMT1):c.1088C>T (p.Thr363Met)	NMT1 (T363M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 442257	GRCh37/hg19 17q21.31(chr17:42649083-43659985)x3	ACBD4, ADAM11 +20 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 60171	GRCh38/hg38 17q21.31(chr17:44906235-45220406)x3	ACBD4, C1QL1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 59587	GRCh38/hg38 17q21.31(chr17:44928498-45299730)x1	ACBD4, C1QL1 +54 more	Copy number loss	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 22