SEC14L4[gene] and "single gene"[properties] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2463643	NM_174977.4(SEC14L4):c.1204C>A (p.Pro402Thr)	SEC14L4 (P402T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159135	NM_174977.4(SEC14L4):c.1165G>A (p.Ala389Thr)	SEC14L4 (A389T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244919	NM_174977.4(SEC14L4):c.1111C>T (p.Arg371Trp)	SEC14L4 (R371W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619265	NM_174977.4(SEC14L4):c.1070A>G (p.Gln357Arg)	SEC14L4 (Q357R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472081	NM_174977.4(SEC14L4):c.1021C>T (p.Arg341Cys)	SEC14L4 (R341C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408640	NM_174977.4(SEC14L4):c.987T>G (p.Ser329Arg)	SEC14L4 (S329R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3159144	NM_174977.4(SEC14L4):c.974G>A (p.Gly325Glu)	SEC14L4 (G325E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612983	NM_174977.4(SEC14L4):c.889C>G (p.Leu297Val)	SEC14L4 (L297V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268131	NM_174977.4(SEC14L4):c.830A>G (p.Gln277Arg)	SEC14L4 (Q277R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481514	NM_174977.4(SEC14L4):c.722T>C (p.Phe241Ser)	SEC14L4 (F241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343626	NM_174977.4(SEC14L4):c.644G>A (p.Arg215Lys)	SEC14L4 (R215K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3159143	NM_174977.4(SEC14L4):c.643A>G (p.Arg215Gly)	SEC14L4 (R215G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159142	NM_174977.4(SEC14L4):c.626T>C (p.Met209Thr)	SEC14L4 (M209T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392890	NM_174977.4(SEC14L4):c.611T>G (p.Leu204Trp)	SEC14L4 (L204W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558543	NM_174977.4(SEC14L4):c.551A>G (p.Glu184Gly)	SEC14L4 (E184G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159141	NM_174977.4(SEC14L4):c.506A>C (p.Glu169Ala)	SEC14L4 (E169A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354704	NM_174977.4(SEC14L4):c.439G>A (p.Glu147Lys)	SEC14L4 (E147K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159140	NM_174977.4(SEC14L4):c.365G>A (p.Arg122Gln)	SEC14L4 (R122Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604597	NM_174977.4(SEC14L4):c.319G>A (p.Asp107Asn)	SEC14L4 (D107N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159139	NM_174977.4(SEC14L4):c.274G>A (p.Asp92Asn)	SEC14L4 (D92N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409440	NM_174977.4(SEC14L4):c.272A>G (p.Tyr91Cys)	SEC14L4 (Y91C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159138	NM_174977.4(SEC14L4):c.254C>T (p.Ser85Leu)	SEC14L4 (S85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382190	NM_174977.4(SEC14L4):c.188G>A (p.Arg63Gln)	SEC14L4 (R63Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159136	NM_174977.4(SEC14L4):c.141T>G (p.Phe47Leu)	SEC14L4 (F47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204700	NM_174977.4(SEC14L4):c.89T>G (p.Leu30Arg)	SEC14L4 (L30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317025	NM_174977.4(SEC14L4):c.62A>G (p.Glu21Gly)	SEC14L4 (E21G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 394331	GRCh37/hg19 22q12.2(chr22:30877290-30890163)x1	SEC14L4	Copy number loss	See cases	GUncertain significance

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Items: 27