Related gene-specific medical variations for Gene (Select 6397) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317011	NM_001143998.2(SEC14L1):c.1817G>A (p.Ser606Asn)	LOC130061753, SEC14L1 (S572N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159111	NM_001143998.2(SEC14L1):c.1760C>T (p.Pro587Leu)	LOC130061753, SEC14L1 (P553L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063497	GRCh37/hg19 17q25.2(chr17:75077219-75228929)x1	SEC14L1	Copy number loss	not specified	GUncertain significance
Select item 2383342	NM_001143998.2(SEC14L1):c.1829C>T (p.Ser610Leu)	LOC130061753, SEC14L1 (S610L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266152	NM_001143998.2(SEC14L1):c.1811A>G (p.Asp604Gly)	LOC130061753, SEC14L1 (D570G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212353	NM_001143998.2(SEC14L1):c.1807C>T (p.Arg603Cys)	LOC130061753, SEC14L1 (R603C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 688329	GRCh37/hg19 17q25.2(chr17:75050166-75094971)x4	SEC14L1	Copy number gain	not provided	GUncertain significance

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