CFAP410[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066806, LOC130066807 +334 more	Copy number loss	See cases	GPathogenic
Select item 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	AATBC, ADARB1 +276 more	Copy number loss	See cases	GPathogenic
Select item 144193	GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1	AATBC, ADARB1 +268 more	Copy number loss	See cases	GPathogenic
Select item 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 147166	GRCh38/hg38 21q22.3(chr21:44131144-44348695)x3	AIRE, CFAP410 +28 more	Copy number gain	See cases	GLikely benign
Select item 1233826	NM_004928.3(CFAP410):c.*135G>A	CFAP410	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1237703	NM_004928.3(CFAP410):c.*33G>A	CFAP410	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1221564	NM_004928.3(CFAP410):c.*30C>T	CFAP410	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3039676	NM_004928.3(CFAP410):c.*4C>T	CFAP410	Single nucleotide variant (3 prime UTR variant)	CFAP410-related disorder	GLikely benign
Select item 1491485	NM_004928.3(CFAP410):c.766G>A (p.Glu256Lys)	CFAP410 (E255K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 715202	NM_004928.3(CFAP410):c.765C>T (p.Ala255=)	CFAP410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 546908	NM_004928.3(CFAP410):c.763G>A (p.Ala255Thr)	CFAP410 (A255T +3 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1116010	NM_004928.3(CFAP410):c.762C>T (p.His254=)	CFAP410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1975335	NM_004928.3(CFAP410):c.761A>G (p.His254Arg)	CFAP410 (H212R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1500520	NM_004928.3(CFAP410):c.752T>G (p.Val251Gly)	CFAP410 (V209G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1650506	NM_004928.3(CFAP410):c.750G>A (p.Glu250=)	CFAP410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1908771	NM_004928.3(CFAP410):c.747A>G (p.Glu249=)	CFAP410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1103863	NM_004928.3(CFAP410):c.744G>A (p.Gly248=)	CFAP410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946303	NM_004928.3(CFAP410):c.740G>T (p.Arg247Leu)	CFAP410 (R246L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716898	NM_004928.3(CFAP410):c.740G>A (p.Arg247His)	CFAP410 (R246H +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 998762	NM_004928.3(CFAP410):c.739C>T (p.Arg247Cys)	CFAP410 (R205C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170332	NM_004928.3(CFAP410):c.717_730dup (p.Gln244fs)	CFAP410 (Q243fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1132920	NM_004928.3(CFAP410):c.729G>A (p.Leu243=)	CFAP410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1470735	NM_004928.3(CFAP410):c.725G>A (p.Arg242Gln)	CFAP410 (R200Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1500883	NM_004928.3(CFAP410):c.724C>T (p.Arg242Trp)	CFAP410 (R361W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1382747	NM_004928.3(CFAP410):c.689_722dup (p.Ser241fs)	CFAP410 (S199fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1351094	NM_004928.3(CFAP410):c.719dup (p.Ser241fs)	CFAP410 (S199fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1589339	NM_004928.3(CFAP410):c.717G>T (p.Val239=)	CFAP410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 755697	NM_004928.3(CFAP410):c.714T>G (p.Thr238=)	CFAP410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1046520	NM_004928.3(CFAP410):c.713C>T (p.Thr238Ile)	CFAP410 (T237I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1025342	NM_004928.3(CFAP410):c.713C>G (p.Thr238Ser)	CFAP410 (T196S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446710	NM_004928.3(CFAP410):c.711G>C (p.Gln237His)	CFAP410 (Q237H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357679	NM_004928.3(CFAP410):c.710A>C (p.Gln237Pro)	CFAP410 (Q356P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388470	NM_004928.3(CFAP410):c.706_707inv (p.Gln236Trp)	CFAP410 (Q235W +3 more)	Inversion (missense variant)	not provided	GUncertain significance
Select item 259589	NM_004928.3(CFAP410):c.707A>G (p.Gln236Arg)	CFAP410 (Q236R +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1440727	NM_004928.3(CFAP410):c.703G>A (p.Val235Met)	CFAP410 (V193M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900430	NM_004928.3(CFAP410):c.702C>T (p.Ala234=)	CFAP410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 958183	NM_004928.3(CFAP410):c.700G>A (p.Ala234Thr)	CFAP410 (A233T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1105542	NM_004928.3(CFAP410):c.699G>A (p.Glu233=)	CFAP410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2023558	NM_004928.3(CFAP410):c.698A>G (p.Glu233Gly)	CFAP410 (E191G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652743	NM_004928.3(CFAP410):c.696G>A (p.Leu232=)	CFAP410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1616712	NM_004928.3(CFAP410):c.690G>A (p.Glu230=)	CFAP410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1489267	NM_004928.3(CFAP410):c.681_684delinsCTCCC (p.Asp228fs)	CFAP410 (D227fs +3 more)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 259588	NM_004928.3(CFAP410):c.684T>C (p.Asp228=)	CFAP410	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3013261	NM_004928.3(CFAP410):c.681G>C (p.Leu227=)	CFAP410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009358	NM_004928.3(CFAP410):c.681G>A (p.Leu227=)	CFAP410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1539833	NM_004928.3(CFAP410):c.662TGC[5] (p.Leu224dup)	CFAP410	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 857942	NM_004928.3(CFAP410):c.674G>A (p.Arg225Gln)	CFAP410 (R224Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1051834	NM_004928.3(CFAP410):c.673C>T (p.Arg225Trp)	CFAP410 (R183W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 428574	NM_004928.3(CFAP410):c.671T>C (p.Leu224Pro)	CFAP410 (L224P +3 more)	Single nucleotide variant (missense variant)	Axial spondylometaphyseal dysplasia	GPathogenic
Select item 2962416	NM_004928.3(CFAP410):c.670C>T (p.Leu224=)	CFAP410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614161	NM_004928.3(CFAP410):c.669G>C (p.Leu223=)	CFAP410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413850	NM_004928.3(CFAP410):c.660C>T (p.Ile220=)	CFAP410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1368489	NM_004928.3(CFAP410):c.655G>C (p.Ala219Pro)	CFAP410 (A218P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1571246	NM_004928.3(CFAP410):c.654T>C (p.Thr218=)	CFAP410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1310976	NM_004928.3(CFAP410):c.650T>C (p.Leu217Pro)	CFAP410 (L175P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997699	NM_004928.3(CFAP410):c.649C>T (p.Leu217=)	CFAP410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015261	NM_004928.3(CFAP410):c.648C>T (p.Val216=)	CFAP410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1000758	NM_004928.3(CFAP410):c.646G>A (p.Val216Ile)	CFAP410 (V174I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 737140	NM_004928.3(CFAP410):c.645C>T (p.Asn215=)	CFAP410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 812234	NM_004928.3(CFAP410):c.643-1G>C	CFAP410	Single nucleotide variant (splice acceptor variant)	Axial spondylometaphyseal dysplasia	GPathogenic
Select item 812235	NM_004928.3(CFAP410):c.643-2A>G	CFAP410	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis	GPathogenic
Select item 3014613	NM_004928.3(CFAP410):c.643-7C>T	CFAP410	Single nucleotide variant (intron variant)	not provided	GLikely benign

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