RIPPLY2[gene] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	LOC129996748, LOC129996749 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 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 151973	GRCh38/hg38 6q14.2-14.3(chr6:83656740-84324523)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 153810	GRCh38/hg38 6q14.2-14.3(chr6:83664023-84334552)x3	CEP162, CYB5R4 +18 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 144628	GRCh38/hg38 6q14.2-14.3(chr6:83713534-84298234)x3	CEP162, CYB5R4 +13 more	Copy number gain	See cases	GUncertain significance
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	LOC121740658, LOC123775380 +247 more	Copy number loss	See cases	GPathogenic
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 1247080	NM_001009994.3(RIPPLY2):c.-51T>C	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 1165051	NM_001009994.3(RIPPLY2):c.12G>A (p.Ala4=)	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 (synonymous variant +1 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 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 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 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 2870054	NM_001009994.3(RIPPLY2):c.42T>G (p.Ala14=)	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 1567635	NM_001009994.3(RIPPLY2):c.75G>T (p.Arg25=)	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1405483	NM_001009994.3(RIPPLY2):c.95+2T>G	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
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 1911166	NM_001009994.3(RIPPLY2):c.95+12C>G	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (intron variant)	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 2841985	NM_001009994.3(RIPPLY2):c.95+19C>T	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (intron variant)	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 1289126	NM_001009994.3(RIPPLY2):c.95+51T>G	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (intron variant)	not provided	GBenign
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 1166321	NM_001009994.3(RIPPLY2):c.96-4G>A	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 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 specified +1 more	GUncertain significance
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 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 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 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 761510	NM_001009994.3(RIPPLY2):c.129C>G (p.Ala43=)	RIPPLY2-CYB5R4, RIPPLY2	Single nucleotide variant (synonymous variant +1 more)	RIPPLY2-related disorder +1 more	GBenign/Likely 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 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 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 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 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 1980134	NM_001009994.3(RIPPLY2):c.174+9G>A	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (5 prime UTR variant +2 more)	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 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 1615439	NM_001009994.3(RIPPLY2):c.175-20T>A	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 1347529	NM_001009994.3(RIPPLY2):c.229C>T (p.His77Tyr)	RIPPLY2, RIPPLY2-CYB5R4 (H77Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 1582802	NM_001009994.3(RIPPLY2):c.239+19C>T	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (intron 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 2806216	NM_001009994.3(RIPPLY2):c.240-20A>G	RIPPLY2, RIPPLY2-CYB5R4	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
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 +1 more	GConflicting classifications of pathogenicity
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 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 1361468	NM_001009994.3(RIPPLY2):c.346G>C (p.Asp116His)	RIPPLY2, RIPPLY2-CYB5R4 (D116H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 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 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 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 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 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 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 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)	KHDC1L, KHDC3L +88 more	Copy number gain	not specified	GPathogenic
Select item 1340905	GRCh37/hg19 6q14.1-15(chr6:83141523-88023466)x1	CEP162, CGA +20 more	Copy number loss	not provided	GPathogenic
Select item 1003195	NC_000006.11:g.(?_83878953)_(84567108_?)dup	PRSS35, RIPPLY2 +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 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 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	DDX43, TMEM30A +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)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 94