Related gene-specific medical variations for Gene (Select 4830) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052782	NM_001018136.3(NME1-NME2):c.21C>A (p.Thr7=)	NME1, NME1-NME2	Single nucleotide variant (synonymous variant +1 more)	NME1-NME2-related disorder	GLikely benign
Select item 2688272	NM_000269.3(NME1):c.-5+600C>G	NME1, NME1-NME2	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GBenign
Select item 2688180	NM_000269.3(NME1):c.342-53C>A	NME1, NME1-NME2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688150	NM_000269.3(NME1):c.-5+604G>A	NME1, NME1-NME2	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GBenign
Select item 2592832	NM_000269.3(NME1):c.428C>T (p.Thr143Met)	NME1, NME1-NME2 (T143M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2234604	NM_000269.3(NME1):c.452A>G (p.Tyr151Cys)	NME1, NME1-NME2 (Y151C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1049321	NM_000269.3(NME1):c.-5+762del	NME1, NME1-NME2 (I18fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 727415	NM_000269.3(NME1):c.341+10T>G	NME1, NME1-NME2	Single nucleotide variant (intron variant)	not provided	GBenign

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