Related gene-specific medical variations for Gene (Select 54941) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314710	NM_017831.4(RNF125):c.82C>A (p.Pro28Thr)	LOC121852963, RNF125 (P28T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155002	NM_017831.4(RNF125):c.11T>G (p.Val4Gly)	LOC121852963, RNF125 (V4G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2876918	NM_017831.4(RNF125):c.111C>T (p.Cys37=)	LOC121852963, RNF125	Single nucleotide variant (synonymous variant)	Tenorio syndrome	GLikely benign
Select item 2821728	NM_017831.4(RNF125):c.42C>G (p.Pro14=)	LOC121852963, RNF125	Single nucleotide variant (synonymous variant)	Tenorio syndrome	GLikely benign
Select item 2627044	NM_017831.4(RNF125):c.164+5G>A	RNF125	Single nucleotide variant (intron variant)	Tenorio syndrome	GUncertain significance
Select item 2435447	NM_017831.4(RNF125):c.612+1G>A	RNF125	Single nucleotide variant (splice donor variant)	Tenorio syndrome	GUncertain significance
Select item 2348725	NM_017831.4(RNF125):c.82C>T (p.Pro28Ser)	LOC121852963, RNF125 (P28S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1979017	NM_017831.4(RNF125):c.70C>T (p.Arg24Cys)	LOC121852963, RNF125 (R24C)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 1954081	NM_017831.4(RNF125):c.127G>A (p.Val43Met)	LOC121852963, RNF125 (V43M)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 1807786	GRCh37/hg19 18q12.1(chr18:29524181-29617255)x1	RNF125	Copy number loss	not provided	GLikely pathogenic
Select item 1806236	NM_017831.4(RNF125):c.24C>G (p.Asp8Glu)	LOC121852963, RNF125 (D8E)	Single nucleotide variant (missense variant)	Tenorio syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1715375	NM_017831.4(RNF125):c.10G>C (p.Val4Leu)	LOC121852963, RNF125 (V4L)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 1679769	NM_017831.4(RNF125):c.40C>T (p.Pro14Ser)	LOC121852963, RNF125 (P14S)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 1184433	NM_017831.4(RNF125):c.679A>T (p.Asn227Tyr)	RNF125 (N227Y)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 1168280	NM_017831.4(RNF125):c.21C>T (p.Thr7=)	LOC121852963, RNF125	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 772500	NM_017831.4(RNF125):c.132A>G (p.Leu44=)	LOC121852963, RNF125	Single nucleotide variant (synonymous variant)	Tenorio syndrome	GBenign
Select item 726819	NM_017831.4(RNF125):c.90G>A (p.Leu30=)	LOC121852963, RNF125	Single nucleotide variant (synonymous variant)	Tenorio syndrome	GBenign
Select item 707497	NM_017831.4(RNF125):c.28_30del (p.Gly10del)	LOC121852963, RNF125 (G10del)	Deletion (inframe_deletion)	Tenorio syndrome	GBenign
Select item 686665	GRCh37/hg19 18q12.1(chr18:29532253-29637734)x3	RNF125	Copy number gain	not provided	GUncertain significance
Select item 685305	GRCh37/hg19 18q12.1(chr18:29527883-29616695)x1	RNF125	Copy number loss	not provided	GUncertain significance
Select item 542141	NM_017831.4(RNF125):c.81C>A (p.Asp27Glu)	LOC121852963, RNF125 (D27E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 542140	NM_017831.4(RNF125):c.47C>G (p.Ser16Cys)	LOC121852963, RNF125 (S16C)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 436546	NM_017831.4(RNF125):c.122T>C (p.Leu41Pro)	LOC121852963, RNF125 (L41P)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 377122	NM_017831.4(RNF125):c.92C>T (p.Pro31Leu)	LOC121852963, RNF125 (P31L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 24