Related gene-specific medical variations for Gene (Select 92840) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2987277	NM_138393.4(REEP6):c.115+7C>G	LOC130062963, REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2340345	NM_138393.4(REEP6):c.95A>G (p.Glu32Gly)	LOC130062963, REEP6 (E32G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2113969	NM_138393.4(REEP6):c.105T>C (p.Tyr35=)	LOC130062963, REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2014094	NM_138393.4(REEP6):c.115+20C>A	LOC130062963, REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2013123	NM_138393.4(REEP6):c.103T>C (p.Tyr35His)	LOC130062963, REEP6 (Y35H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994173	NM_138393.4(REEP6):c.69G>T (p.Gly23=)	LOC130062963, REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1714684	NM_138393.4(REEP6):c.101G>C (p.Arg34Pro)	LOC130062963, REEP6 (R34P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1663058	NM_138393.4(REEP6):c.115+20_115+21delinsTG	LOC130062963, REEP6	Indel (intron variant)	not provided	GLikely benign
Select item 1640061	NM_138393.4(REEP6):c.45G>A (p.Arg15=)	LOC130062963, REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1563226	NM_138393.4(REEP6):c.115+8G>A	LOC130062963, REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275816	NM_138393.4(REEP6):c.255G>A (p.Trp85Ter)	REEP6 (W85*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1146051	NM_138393.4(REEP6):c.115+10C>T	LOC130062963, REEP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1141100	NM_138393.4(REEP6):c.93G>T (p.Val31=)	LOC130062963, REEP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1124757	NM_138393.4(REEP6):c.6C>T (p.Asp2=)	REEP6, LOC130062962	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1059543	NM_138393.4(REEP6):c.95A>T (p.Glu32Val)	LOC130062963, REEP6 (E32V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1046797	NM_138393.4(REEP6):c.47A>G (p.Asn16Ser)	LOC130062963, REEP6 (N16S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1017464	NM_138393.4(REEP6):c.7G>A (p.Gly3Ser)	LOC130062962, REEP6 (G3S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1016558	NM_138393.4(REEP6):c.77A>T (p.Glu26Val)	LOC130062963, REEP6 (E26V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1009115	NM_138393.4(REEP6):c.96G>T (p.Glu32Asp)	LOC130062963, REEP6 (E32D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 964903	NM_138393.4(REEP6):c.79G>A (p.Ala27Thr)	LOC130062963, REEP6 (A27T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 964902	NM_138393.4(REEP6):c.62T>C (p.Val21Ala)	LOC130062963, REEP6 (V21A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 958640	NM_138393.4(REEP6):c.71C>T (p.Ala24Val)	LOC130062963, REEP6 (A24V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 933604	NM_138393.4(REEP6):c.91G>A (p.Val31Met)	LOC130062963, REEP6 (V31M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 854112	NM_138393.4(REEP6):c.88G>C (p.Gly30Arg)	LOC130062963, REEP6 (G30R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 842904	NM_138393.4(REEP6):c.1A>G (p.Met1Val)	LOC130062962, REEP6 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 834265	NM_138393.4(REEP6):c.50T>C (p.Leu17Pro)	LOC130062963, REEP6 (L17P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Links from Gene

Items: 26