ClinVar for Gene (Select 78994) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310430	NM_024031.5(PRR14):c.1510G>A (p.Glu504Lys)	PRR14 (E504K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310429	NM_024031.5(PRR14):c.1346G>A (p.Arg449His)	PRR14 (R449H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310428	NM_024031.5(PRR14):c.50G>T (p.Arg17Leu)	PRR14 (R17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310427	NM_024031.5(PRR14):c.287G>T (p.Arg96Leu)	PRR14 (R96L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310426	NM_024031.5(PRR14):c.1345C>T (p.Arg449Cys)	PRR14 (R449C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 3219324	NM_024031.5(PRR14):c.620C>T (p.Ser207Phe)	PRR14 (S207F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219323	NM_024031.5(PRR14):c.602A>C (p.Glu201Ala)	PRR14 (E201A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219321	NM_024031.5(PRR14):c.292G>C (p.Ala98Pro)	PRR14 (A98P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219320	NM_024031.5(PRR14):c.1514G>A (p.Arg505His)	PRR14 (R505H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219319	NM_024031.5(PRR14):c.1502A>G (p.Glu501Gly)	PRR14 (E501G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219318	NM_024031.5(PRR14):c.1466C>T (p.Pro489Leu)	PRR14 (P489L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219317	NM_024031.5(PRR14):c.1375C>T (p.Leu459Phe)	PRR14 (L459F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219316	NM_024031.5(PRR14):c.1360C>G (p.Arg454Gly)	PRR14 (R454G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219315	NM_024031.5(PRR14):c.1334G>A (p.Arg445Gln)	PRR14 (R445Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219314	NM_024031.5(PRR14):c.1274G>C (p.Arg425Thr)	PRR14 (R425T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614413	NM_024031.5(PRR14):c.1087A>G (p.Thr363Ala)	PRR14 (T363A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597233	NM_024031.5(PRR14):c.823C>A (p.Pro275Thr)	PRR14 (P275T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595055	NM_024031.5(PRR14):c.307C>A (p.Gln103Lys)	PRR14 (Q103K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2594181	NM_024031.5(PRR14):c.94C>G (p.Arg32Gly)	PRR14 (R32G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559150	NM_024031.5(PRR14):c.499G>A (p.Ala167Thr)	PRR14 (A167T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558476	NM_024031.5(PRR14):c.1652C>A (p.Ala551Asp)	PRR14 (A551D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518439	NM_024031.5(PRR14):c.171A>C (p.Glu57Asp)	PRR14 (E57D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518242	NM_024031.5(PRR14):c.206C>G (p.Pro69Arg)	PRR14 (P69R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496527	NM_024031.5(PRR14):c.208T>C (p.Ser70Pro)	PRR14 (S70P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462403	NM_024031.5(PRR14):c.835C>G (p.Pro279Ala)	PRR14 (P279A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459224	NM_024031.5(PRR14):c.1285G>A (p.Asp429Asn)	PRR14 (D429N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458533	NM_024031.5(PRR14):c.1105A>C (p.Met369Leu)	PRR14 (M369L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403903	NM_024031.5(PRR14):c.1595G>A (p.Arg532Gln)	PRR14 (R532Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400169	NM_024031.5(PRR14):c.269C>T (p.Pro90Leu)	PRR14 (P90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379047	NM_024031.5(PRR14):c.295G>A (p.Gly99Arg)	PRR14 (G99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378188	NM_024031.5(PRR14):c.619T>C (p.Ser207Pro)	PRR14 (S207P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378160	NM_024031.5(PRR14):c.516T>G (p.Asp172Glu)	PRR14 (D172E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372371	NM_024031.5(PRR14):c.439C>T (p.Arg147Trp)	PRR14 (R147W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359918	NM_024031.5(PRR14):c.938G>A (p.Arg313Gln)	PRR14 (R313Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357384	NM_024031.5(PRR14):c.385C>T (p.Arg129Trp)	PRR14 (R129W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342591	NM_024031.5(PRR14):c.835C>T (p.Pro279Ser)	PRR14 (P279S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289633	NM_024031.5(PRR14):c.662C>G (p.Pro221Arg)	PRR14 (P221R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289133	NM_024031.5(PRR14):c.1589G>T (p.Arg530Leu)	PRR14 (R530L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224548	NM_024031.5(PRR14):c.1031C>T (p.Thr344Ile)	PRR14 (T344I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210920	NM_024031.5(PRR14):c.902C>T (p.Ala301Val)	PRR14 (A301V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210669	NM_024031.5(PRR14):c.386G>A (p.Arg129Gln)	PRR14 (R129Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809415	GRCh37/hg19 16p11.2(chr16:30460206-30906733)x3	BCL7C, CFAP119 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1330201	GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3	ALDOA, ASPHD1 +42 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 598742	Single allele	TGFB1I1, TRIM72 +38 more	Deletion	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 443355	GRCh37/hg19 16p11.2(chr16:30607048-31117069)x1	BCL7C, CFAP119 +18 more	Copy number loss	See cases	GUncertain significance
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	AHSP, ALDOA +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 394674	GRCh37/hg19 16p11.2(chr16:30515442-30792856)x1	CFAP119, FBRS +12 more	Copy number loss	See cases	GUncertain significance
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221517	GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3	BCKDK, BCL7C +30 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146284	GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1	ALDOA, ASPHD1 +180 more	Copy number loss	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 61