ClinVar for Gene (Select 101928069) - ClinVar - NCBI

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Links from Gene

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3211380	NM_145065.3(PELI3):c.965G>A (p.Arg322Gln)	DPP3-DT, PELI3 (R259Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211379	NM_145065.3(PELI3):c.910C>T (p.Arg304Cys)	DPP3-DT, PELI3 (R241C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211378	NM_145065.3(PELI3):c.1049C>T (p.Ala350Val)	DPP3-DT, PELI3 (A243V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606881	NM_145065.3(PELI3):c.1396G>C (p.Gly466Arg)	DPP3-DT, PELI3 (G466R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477010	NM_145065.3(PELI3):c.1148A>T (p.Glu383Val)	DPP3-DT, PELI3 (E320V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351055	NM_145065.3(PELI3):c.785G>T (p.Cys262Phe)	DPP3-DT, PELI3 (C238F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307280	NM_145065.3(PELI3):c.1400C>T (p.Pro467Leu)	DPP3-DT, PELI3 (P404L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232616	NM_145065.3(PELI3):c.1058A>T (p.Lys353Ile)	DPP3-DT, PELI3 (K329I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	LOC130006222, LOC130006223 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	LOC130006168, LOC130006169 +212 more	Copy number gain	See cases	GPathogenic