Related gene-specific medical variations for Gene (Select 134701) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314559	NM_001009994.3(RIPPLY2):c.25G>C (p.Gly9Arg)	RIPPLY2, RIPPLY2-CYB5R4 (G9R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3154705	NM_001009994.3(RIPPLY2):c.155C>G (p.Pro52Arg)	RIPPLY2, RIPPLY2-CYB5R4 (P52R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3005853	NM_001009994.3(RIPPLY2):c.174+18C>T	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 3001175	NM_001009994.3(RIPPLY2):c.95+18G>A	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986089	NM_001009994.3(RIPPLY2):c.153G>C (p.Thr51=)	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2974973	NM_001009994.3(RIPPLY2):c.95+12C>A	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875662	NM_001009994.3(RIPPLY2):c.131G>A (p.Gly44Glu)	RIPPLY2, RIPPLY2-CYB5R4 (G44E)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2870054	NM_001009994.3(RIPPLY2):c.42T>G (p.Ala14=)	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2841985	NM_001009994.3(RIPPLY2):c.95+19C>T	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832938	NM_001009994.3(RIPPLY2):c.121_124del (p.Val41fs)	RIPPLY2-CYB5R4, RIPPLY2 (V41fs)	Deletion (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2809248	NM_001009994.3(RIPPLY2):c.34_35del (p.Ser12fs)	RIPPLY2, RIPPLY2-CYB5R4 (S12fs)	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2806405	NM_001009994.3(RIPPLY2):c.33G>A (p.Glu11=)	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2806216	NM_001009994.3(RIPPLY2):c.240-20A>G	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2723255	NM_001009994.3(RIPPLY2):c.9C>T (p.Asn3=)	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2612978	NM_001009994.3(RIPPLY2):c.61G>A (p.Asp21Asn)	RIPPLY2, RIPPLY2-CYB5R4 (D21N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2528297	NM_001009994.3(RIPPLY2):c.217T>C (p.Tyr73His)	RIPPLY2, RIPPLY2-CYB5R4 (Y94H +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2415892	NM_001009994.3(RIPPLY2):c.80C>T (p.Ala27Val)	RIPPLY2, RIPPLY2-CYB5R4 (A27V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2375979	NM_001009994.3(RIPPLY2):c.367G>T (p.Asp123Tyr)	RIPPLY2, RIPPLY2-CYB5R4 (D123Y +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2166277	NM_001009994.3(RIPPLY2):c.36T>C (p.Ser12=)	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2163306	NM_001009994.3(RIPPLY2):c.101C>T (p.Ala34Val)	RIPPLY2, RIPPLY2-CYB5R4 (A34V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2109467	NM_001009994.3(RIPPLY2):c.141AGA[1] (p.Glu50del)	RIPPLY2, RIPPLY2-CYB5R4 (E50del)	Microsatellite (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2102663	NM_001009994.3(RIPPLY2):c.239+19C>G	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2074572	NM_001009994.3(RIPPLY2):c.35G>C (p.Ser12Thr)	RIPPLY2, RIPPLY2-CYB5R4 (S12T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1989079	NM_001009994.3(RIPPLY2):c.175-13C>T	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1982826	NM_001009994.3(RIPPLY2):c.40G>A (p.Ala14Thr)	RIPPLY2, RIPPLY2-CYB5R4 (A14T)	Single nucleotide variant (non-coding transcript variant +1 more)	Spondylocostal dysostosis 6, autosomal recessive +1 more	GUncertain significance
Select item 1980134	NM_001009994.3(RIPPLY2):c.174+9G>A	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1921690	NM_001009994.3(RIPPLY2):c.378T>C (p.Cys126=)	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1911521	NM_001009994.3(RIPPLY2):c.81G>A (p.Ala27=)	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1911166	NM_001009994.3(RIPPLY2):c.95+12C>G	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639236	NM_001009994.3(RIPPLY2):c.96-18T>C	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1625601	NM_001009994.3(RIPPLY2):c.129C>T (p.Ala43=)	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1615439	NM_001009994.3(RIPPLY2):c.175-20T>A	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610386	NM_001009994.3(RIPPLY2):c.174+14G>A	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1582802	NM_001009994.3(RIPPLY2):c.239+19C>T	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1567635	NM_001009994.3(RIPPLY2):c.75G>T (p.Arg25=)	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1549025	NM_001009994.3(RIPPLY2):c.351C>T (p.Ser117=)	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1533174	NM_001009994.3(RIPPLY2):c.95+20T>C	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1485355	NM_001009994.3(RIPPLY2):c.74G>A (p.Arg25Gln)	RIPPLY2, RIPPLY2-CYB5R4 (R25Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471159	NM_001009994.3(RIPPLY2):c.387A>T (p.Ter129Tyr)	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 1446019	NM_001009994.3(RIPPLY2):c.176T>C (p.Met59Thr)	RIPPLY2, RIPPLY2-CYB5R4 (M59T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1439524	NM_001009994.3(RIPPLY2):c.25G>T (p.Gly9Cys)	RIPPLY2, RIPPLY2-CYB5R4 (G9C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1428410	NM_001009994.3(RIPPLY2):c.50G>C (p.Cys17Ser)	RIPPLY2, RIPPLY2-CYB5R4 (C17S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1405483	NM_001009994.3(RIPPLY2):c.95+2T>G	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1361468	NM_001009994.3(RIPPLY2):c.346G>C (p.Asp116His)	RIPPLY2, RIPPLY2-CYB5R4 (D116H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1361357	NM_001009994.3(RIPPLY2):c.40G>T (p.Ala14Ser)	RIPPLY2, RIPPLY2-CYB5R4 (A14S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1352241	NM_001009994.3(RIPPLY2):c.115C>G (p.Pro39Ala)	RIPPLY2, RIPPLY2-CYB5R4 (P39A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1351107	NM_001009994.3(RIPPLY2):c.70A>G (p.Thr24Ala)	RIPPLY2, RIPPLY2-CYB5R4 (T24A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347529	NM_001009994.3(RIPPLY2):c.229C>T (p.His77Tyr)	RIPPLY2-CYB5R4, RIPPLY2 (H77Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1289126	NM_001009994.3(RIPPLY2):c.95+51T>G	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247080	NM_001009994.3(RIPPLY2):c.-51T>C	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1239966	NM_001009994.3(RIPPLY2):c.239+195G>A	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237298	NM_001009994.3(RIPPLY2):c.239+263G>A	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166321	NM_001009994.3(RIPPLY2):c.96-4G>A	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (non-coding transcript variant +1 more)	Spondylocostal dysostosis 6, autosomal recessive +1 more	GBenign
Select item 1165051	NM_001009994.3(RIPPLY2):c.12G>A (p.Ala4=)	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 6, autosomal recessive +1 more	GBenign
Select item 1021565	NM_001009994.3(RIPPLY2):c.100G>A (p.Ala34Thr)	RIPPLY2, RIPPLY2-CYB5R4 (A34T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1019982	NM_001009994.3(RIPPLY2):c.352G>A (p.Glu118Lys)	RIPPLY2, RIPPLY2-CYB5R4 (E118K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 761510	NM_001009994.3(RIPPLY2):c.129C>G (p.Ala43=)	RIPPLY2-CYB5R4, RIPPLY2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 739856	NM_001009994.3(RIPPLY2):c.150G>A (p.Glu50=)	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 591180	NM_001009994.3(RIPPLY2):c.240-1G>C	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 221272	NM_001009994.3(RIPPLY2):c.240-4T>G	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 221271	NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter)	RIPPLY2-CYB5R4, RIPPLY2 (R80* +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Spondylocostal dysostosis 6, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 218314	NM_001009994.3(RIPPLY2):c.299del (p.Leu100fs)	RIPPLY2, RIPPLY2-CYB5R4 (L100fs)	Deletion (frameshift variant +1 more)	Klippel-Feil syndrome 2, autosomal recessive	GLikely pathogenic

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Items: 62