ClinVar for Gene (Select 134701) - ClinVar

Links from Gene

Items: 95

	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 2498333	GRCh37/hg19 6q14.1-14.3(chr6:82840207-86522229)x1	CEP162, CYB5R4 +18 more	Copy number loss	See cases	GPathogenic
Select item 2423464	NC_000006.11:g.(?_84563136)_(84563512_?)del	RIPPLY2	Deletion	not provided	GUncertain significance
Select item 2423463	NC_000006.11:g.(?_84563136)_(84567108_?)del	RIPPLY2	Deletion	not provided	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 specified +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 1808383	GRCh37/hg19 6q14.2-14.3(chr6:84373743-85044270)x3	CEP162, CYB5R4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
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 1527261	GRCh37/hg19 6q14.2(chr6:84452336-84742729)	CYB5R4, RIPPLY2	Copy number loss	not specified	GUncertain significance
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
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-CYB5R4, RIPPLY2 (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 1340905	GRCh37/hg19 6q14.1-15(chr6:83141523-88023466)x1	CEP162, CGA +20 more	Copy number loss	not provided	GPathogenic
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 +2 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 specified +1 more	GUncertain significance
Select item 1003195	NC_000006.11:g.(?_83878953)_(84567108_?)dup	ME1, PGM3 +4 more	Duplication	not provided	GUncertain significance
Select item 814841	GRCh37/hg19 6q14.2(chr6:84559903-84819164)x1	CYB5R4, MRAP2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 761510	NM_001009994.3(RIPPLY2):c.129C>G (p.Ala43=)	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (synonymous variant +1 more)	RIPPLY2-related disorder +1 more	GBenign/Likely benign
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 689041	GRCh37/hg19 6q14.2-14.3(chr6:84369643-85044077)x3	CEP162, CYB5R4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 684916	GRCh37/hg19 6q14.2-14.3(chr6:84354003-85052572)x3	CEP162, CYB5R4 +3 more	Copy number gain	not provided	GUncertain significance
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 563201	GRCh37/hg19 6q14.2(chr6:84480837-84803980)x1	RIPPLY2, MRAP2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 563200	GRCh37/hg19 6q14.2-14.3(chr6:84373742-85044270)x3	CYB5R4, CEP162 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 563192	GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1	BCKDHB, CD109 +40 more	Copy number loss	not provided	GPathogenic
Select item 560055	Single allele	AKIRIN2, ANKRD6 +44 more	Deletion	not provided	GPathogenic
Select item 443811	GRCh37/hg19 6q14.2-14.3(chr6:84374492-85044270)x3	CEP162, CYB5R4 +3 more	Copy number gain	See cases	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442516	GRCh37/hg19 6q14.2-14.3(chr6:84364140-85044270)x3	CEP162, CYB5R4 +3 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 393723	GRCh37/hg19 6q14.2-14.3(chr6:84366014-84922654)x3	CEP162, CYB5R4 +3 more	Copy number gain	See cases	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)	RIPPLY2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 221271	NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter)	RIPPLY2, RIPPLY2-CYB5R4 (R80* +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +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
Select item 157021	NC_000006.12:g.83843759_83988634dup	RIPPLY2-CYB5R4, CYB5R4 +6 more	Duplication	Large for gestational age +1 more	Gnot provided
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 155103	GRCh38/hg38 6q14.2-14.3(chr6:83656740-84324523)x4	CEP162, CYB5R4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 153810	GRCh38/hg38 6q14.2-14.3(chr6:83664023-84334552)x3	CEP162, CYB5R4 +18 more	Copy number gain	See cases	GUncertain significance
Select item 151973	GRCh38/hg38 6q14.2-14.3(chr6:83656740-84324523)x3	CEP162, CYB5R4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 144628	GRCh38/hg38 6q14.2-14.3(chr6:83713534-84298234)x3	CEP162, CYB5R4 +13 more	Copy number gain	See cases	GUncertain significance
Select item 59522	GRCh38/hg38 6q14.2-14.3(chr6:83680568-84270992)x3	CEP162, CYB5R4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 59504	GRCh38/hg38 6q14.2-14.3(chr6:83656740-84305263)x3	CEP162, CYB5R4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 95