ClinVar for Gene (Select 57409) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3126462	NM_001370592.1(MIF4GD):c.298G>C (p.Gly100Arg)	MIF4GD (G100R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126461	NM_001370592.1(MIF4GD):c.230G>A (p.Arg77His)	MIF4GD (R111H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063507	GRCh37/hg19 17q25.1(chr17:72875847-73484159)x3	ARMC7, ATP5PD +19 more	Copy number gain	not specified	GUncertain significance
Select item 2684856	GRCh37/hg19 17q25.1(chr17:73264158-74039659)x3	ACOX1, CASKIN2 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2684855	GRCh37/hg19 17q25.1(chr17:73259444-73533226)x3	CASKIN2, GRB2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2620155	NM_001370592.1(MIF4GD):c.105G>C (p.Glu35Asp)	MIF4GD (E35D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614873	NM_001370592.1(MIF4GD):c.397C>T (p.Leu133Phe)	MIF4GD (L167F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2542011	NM_001370592.1(MIF4GD):c.80A>T (p.Lys27Ile)	MIF4GD (K27I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521123	NM_001370592.1(MIF4GD):c.508A>G (p.Met170Val)	MIF4GD (M118V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514859	NM_001370592.1(MIF4GD):c.169C>T (p.Arg57Cys)	MIF4GD (R91C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498731	GRCh37/hg19 17q25.1(chr17:72864876-73328878)x1	GRB2, HID1 +19 more	Copy number loss	not provided	GUncertain significance
Select item 2398847	NM_001370592.1(MIF4GD):c.21G>C (p.Glu7Asp)	MIF4GD (E7D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382149	NM_001370592.1(MIF4GD):c.82+731C>T	MIF4GD (R57C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345214	NM_001370592.1(MIF4GD):c.255G>T (p.Gln85His)	MIF4GD (Q119H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314734	NM_001370592.1(MIF4GD):c.658G>A (p.Val220Ile)	MIF4GD (V261I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290572	NM_001370592.1(MIF4GD):c.430A>G (p.Lys144Glu)	MIF4GD (K178E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233479	NM_001370592.1(MIF4GD):c.82+717A>G	MIF4GD (Y45C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526586	GRCh37/hg19 17q25.1(chr17:73049227-73533226)	ARMC7, CASKIN2 +14 more	Copy number loss	not specified	GUncertain significance
Select item 1377280	NC_000017.10:g.(?_73204602)_(73515148_?)dup	CASKIN2, GGA3 +7 more	Duplication	not provided	GUncertain significance
Select item 1340452	GRCh37/hg19 17q25.1(chr17:73045938-73310951)x3	ARMC7, GGA3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 815952	GRCh37/hg19 17q25.1(chr17:73218219-73443987)x3	GGA3, GRB2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815951	GRCh37/hg19 17q25.1(chr17:72945415-73414786)x3	ARMC7, ATP5PD +15 more	Copy number gain	not provided	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564472	GRCh37/hg19 17q25.1(chr17:73057756-73429731)x3	ARMC7, GGA3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 564471	GRCh37/hg19 17q25.1(chr17:72962625-73281784)x3	ARMC7, ATP5PD +13 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 493579	GRCh37/hg19 17q25.1(chr17:72901452-73518861)x3	ARMC7, ATP5PD +20 more	Copy number gain	not provided	GUncertain significance
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +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 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 36