ClinVar for Gene (Select 348807) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3143297	NM_182628.3(CFAP100):c.868G>C (p.Glu290Gln)	CFAP100 (E290Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143296	NM_182628.3(CFAP100):c.1697G>C (p.Arg566Pro)	CFAP100 (R566P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143294	NM_182628.3(CFAP100):c.1688C>T (p.Ala563Val)	CFAP100 (A563V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143293	NM_182628.3(CFAP100):c.1459G>T (p.Asp487Tyr)	CFAP100 (D487Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143292	NM_182628.3(CFAP100):c.1445A>T (p.Asn482Ile)	CFAP100 (N482I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143290	NM_182628.3(CFAP100):c.1385G>A (p.Arg462Gln)	CFAP100 (R462Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143289	NM_182628.3(CFAP100):c.1368G>C (p.Glu456Asp)	CFAP100 (E456D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143288	NM_182628.3(CFAP100):c.1351G>A (p.Glu451Lys)	CFAP100 (E451K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143287	NM_182628.3(CFAP100):c.1085C>T (p.Ser362Leu)	CFAP100 (S362L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143286	NM_182628.3(CFAP100):c.1072G>A (p.Asp358Asn)	CFAP100 (D358N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143285	NM_182628.3(CFAP100):c.1028G>C (p.Ser343Thr)	CFAP100 (S343T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062736	GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)x1	ABTB1, ALDH1L1 +26 more	Copy number loss	not specified	GUncertain significance
Select item 2614914	NM_182628.3(CFAP100):c.1813G>C (p.Glu605Gln)	CFAP100 (E605Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610136	NM_182628.3(CFAP100):c.1771A>G (p.Lys591Glu)	CFAP100 (K591E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603266	NM_182628.3(CFAP100):c.1684C>T (p.Arg562Trp)	CFAP100 (R562W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552702	NM_182628.3(CFAP100):c.402G>C (p.Lys134Asn)	CFAP100 (K134N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546769	NM_182628.3(CFAP100):c.882G>C (p.Glu294Asp)	CFAP100 (E294D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534159	NM_182628.3(CFAP100):c.1014C>A (p.Ser338Arg)	CFAP100 (S338R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531390	NM_182628.3(CFAP100):c.1399G>A (p.Gly467Ser)	CFAP100 (G467S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478358	NM_182628.3(CFAP100):c.583A>G (p.Lys195Glu)	CFAP100 (K195E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468834	NM_182628.3(CFAP100):c.1283G>A (p.Arg428His)	CFAP100 (R428H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467751	NM_182628.3(CFAP100):c.1745G>A (p.Arg582His)	CFAP100 (R582H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466641	NM_182628.3(CFAP100):c.1618C>T (p.Arg540Trp)	CFAP100 (R540W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460871	NM_182628.3(CFAP100):c.1000C>T (p.Arg334Trp)	CFAP100 (R334W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411154	NM_182628.3(CFAP100):c.364G>A (p.Glu122Lys)	CFAP100 (E122K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410642	NM_182628.3(CFAP100):c.646A>G (p.Arg216Gly)	CFAP100 (R216G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407164	NM_182628.3(CFAP100):c.1811A>G (p.Glu604Gly)	CFAP100 (E604G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402690	NM_182628.3(CFAP100):c.1487A>G (p.Gln496Arg)	CFAP100 (Q496R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401424	NM_182628.3(CFAP100):c.1152C>G (p.Phe384Leu)	CFAP100 (F384L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379435	NM_182628.3(CFAP100):c.137G>T (p.Gly46Val)	CFAP100 (G46V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376347	NM_182628.3(CFAP100):c.209G>A (p.Arg70Gln)	CFAP100 (R70Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374022	NM_182628.3(CFAP100):c.536C>T (p.Ala179Val)	CFAP100 (A179V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362236	NM_182628.3(CFAP100):c.1469G>A (p.Arg490Gln)	CFAP100 (R490Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348395	NM_182628.3(CFAP100):c.1348G>A (p.Glu450Lys)	CFAP100 (E450K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341640	NM_182628.3(CFAP100):c.122A>T (p.Lys41Ile)	CFAP100 (K41I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294920	NM_182628.3(CFAP100):c.1471C>T (p.His491Tyr)	CFAP100 (H491Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266552	NM_182628.3(CFAP100):c.376G>T (p.Ala126Ser)	CFAP100 (A126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252467	NM_182628.3(CFAP100):c.697C>T (p.Arg233Trp)	CFAP100 (R233W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238096	NM_182628.3(CFAP100):c.1711A>G (p.Ile571Val)	CFAP100 (I571V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230022	NM_182628.3(CFAP100):c.119G>C (p.Arg40Thr)	CFAP100 (R40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228355	NM_182628.3(CFAP100):c.1694C>T (p.Ala565Val)	CFAP100 (A565V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220261	NM_182628.3(CFAP100):c.1697G>A (p.Arg566His)	CFAP100 (R566H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206752	NM_182628.3(CFAP100):c.520C>T (p.Arg174Trp)	CFAP100 (R174W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205406	NM_182628.3(CFAP100):c.126C>A (p.Asn42Lys)	CFAP100 (N42K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527040	GRCh37/hg19 3q21.2-21.3(chr3:124990058-126401548)	ALDH1L1, C3orf22 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ISY1-RAB43, ITGB5 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 625698	GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192)	ALDH1L1, C3orf22 +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC126806816, LOC126806817 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	ADCY5, ALDH1L1 +214 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	ABTB1, ADCY5 +570 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57791	GRCh38/hg38 3q21.3(chr3:126167799-126819908)x3	ALDH1L1, ALDH1L1-AS2 +25 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

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Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

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Links from Gene

Items: 59