CFAP206[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
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 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	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 147590	GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1	AKIRIN2, ANKRD6 +157 more	Copy number loss	See cases	GPathogenic
Select item 146127	GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1	LOC129389576, LOC129389577 +153 more	Copy number loss	See cases	GPathogenic
Select item 152415	GRCh38/hg38 6q14.3-15(chr6:87050381-87535518)x1	C6orf163, CFAP206 +16 more	Copy number loss	See cases	GUncertain significance
Select item 2289748	NM_001031743.3(CFAP206):c.28A>G (p.Ile10Val)	CFAP206 (I10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548004	NM_001031743.3(CFAP206):c.82G>T (p.Val28Phe)	CFAP206 (V28F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311383	NM_001031743.3(CFAP206):c.106A>G (p.Met36Val)	CFAP206 (M36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266409	NM_001031743.3(CFAP206):c.199A>G (p.Met67Val)	CFAP206 (M67V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258648	NM_001031743.3(CFAP206):c.262G>A (p.Asp88Asn)	CFAP206 (D88N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227185	NM_001031743.3(CFAP206):c.361G>T (p.Ala121Ser)	CFAP206 (A121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365825	NM_001031743.3(CFAP206):c.382G>A (p.Glu128Lys)	CFAP206 (E128K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341810	NM_001031743.3(CFAP206):c.407G>C (p.Ser136Thr)	CFAP206 (S136T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2263788	NM_001031743.3(CFAP206):c.512C>T (p.Thr171Ile)	CFAP206 (T171I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569081	NM_001031743.3(CFAP206):c.544C>T (p.Arg182Cys)	CFAP206 (R182C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143357	NM_001031743.3(CFAP206):c.545G>A (p.Arg182His)	CFAP206 (R182H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475103	NM_001031743.3(CFAP206):c.659C>T (p.Pro220Leu)	CFAP206 (P220L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595440	NM_001031743.3(CFAP206):c.700C>T (p.Arg234Trp)	CFAP206 (R234W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143358	NM_001031743.3(CFAP206):c.701G>A (p.Arg234Gln)	CFAP206 (R234Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143359	NM_001031743.3(CFAP206):c.722C>G (p.Thr241Arg)	CFAP206 (T241R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143360	NM_001031743.3(CFAP206):c.774G>C (p.Gln258His)	CFAP206 (Q258H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143361	NM_001031743.3(CFAP206):c.794C>T (p.Ala265Val)	CFAP206 (A265V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528809	NM_001031743.3(CFAP206):c.800A>G (p.Tyr267Cys)	CFAP206 (Y267C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143362	NM_001031743.3(CFAP206):c.845A>G (p.Asp282Gly)	CFAP206 (D282G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478964	NM_001031743.3(CFAP206):c.856G>A (p.Gly286Ser)	CFAP206 (G286S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266411	NM_001031743.3(CFAP206):c.940G>C (p.Val314Leu)	CFAP206 (V314L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307805	NM_001031743.3(CFAP206):c.1097T>G (p.Met366Arg)	CFAP206 (M366R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266408	NM_001031743.3(CFAP206):c.1115G>C (p.Gly372Ala)	CFAP206 (G372A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143349	NM_001031743.3(CFAP206):c.1132G>T (p.Asp378Tyr)	CFAP206 (D378Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266412	NM_001031743.3(CFAP206):c.1163A>G (p.Asp388Gly)	CFAP206 (D388G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485000	NM_001031743.3(CFAP206):c.1208C>A (p.Pro403Gln)	CFAP206 (P403Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143350	NM_001031743.3(CFAP206):c.1232A>G (p.Lys411Arg)	CFAP206 (K411R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269337	NM_001031743.3(CFAP206):c.1249C>T (p.Arg417Trp)	CFAP206 (R417W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143351	NM_001031743.3(CFAP206):c.1318A>G (p.Ile440Val)	CFAP206 (I440V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143352	NM_001031743.3(CFAP206):c.1360G>T (p.Asp454Tyr)	CFAP206 (D454Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143353	NM_001031743.3(CFAP206):c.1393C>T (p.His465Tyr)	CFAP206 (H465Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408967	NM_001031743.3(CFAP206):c.1418A>G (p.Lys473Arg)	CFAP206 (K473R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1027670	NM_001031743.3(CFAP206):c.1430dup (p.Asn477fs)	CFAP206 (N477fs)	Duplication (frameshift variant)	Abnormal sperm tail morphology	GPathogenic
Select item 2259917	NM_001031743.3(CFAP206):c.1509C>A (p.Asp503Glu)	CFAP206 (D503E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143354	NM_001031743.3(CFAP206):c.1519A>T (p.Ile507Leu)	CFAP206 (I507L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143355	NM_001031743.3(CFAP206):c.1559A>G (p.Asn520Ser)	CFAP206 (N520S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362599	NM_001031743.3(CFAP206):c.1580C>T (p.Thr527Met)	CFAP206 (T527M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588807	NM_001031743.3(CFAP206):c.1649G>T (p.Arg550Leu)	CFAP206 (R550L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341629	NM_001031743.3(CFAP206):c.1660A>G (p.Thr554Ala)	CFAP206 (T554A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2249836	NM_001031743.3(CFAP206):c.1801C>T (p.Arg601Cys)	CFAP206 (R601C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601769	NM_001031743.3(CFAP206):c.1861G>A (p.Glu621Lys)	CFAP206 (E621K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062883	GRCh37/hg19 6q15(chr6:88039867-88305895)x1	C6orf163, CFAP206 +4 more	Copy number loss	not specified	GPathogenic
Select item 2685209	GRCh37/hg19 6q15-16.1(chr6:88018122-94565168)x1	AKIRIN2, ANKRD6 +24 more	Copy number loss	not provided	GPathogenic
Select item 1808789	GRCh37/hg19 6q14.3-15(chr6:86098133-88663964)x3	AKIRIN2, C6orf163 +15 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 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 814842	GRCh37/hg19 6q14.3-15(chr6:86024761-90023713)x1	CNR1, SLC35A1 +23 more	Copy number loss	not provided	GPathogenic
Select item 689189	GRCh37/hg19 6q15(chr6:88095499-88341035)x1	CFAP206, ORC3 +2 more	Copy number loss	not provided	GUncertain significance
Select item 688276	GRCh37/hg19 6q14.3-16.1(chr6:87627836-93698486)x1	AKIRIN2, ANKRD6 +26 more	Copy number loss	not provided	GUncertain significance
Select item 687566	GRCh37/hg19 6q15(chr6:88153915-88410050)x3	AKIRIN2, CFAP206 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687255	GRCh37/hg19 6q15(chr6:88153915-88418531)x3	AKIRIN2, CFAP206 +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 560055	Single allele	AKIRIN2, ANKRD6 +44 more	Deletion	not provided	GPathogenic
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

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Items: 63