"GeneDx"[submitter] AND "CFAP410"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 259588	NM_004928.3(CFAP410):c.684T>C (p.Asp228=)	CFAP410	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
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 1271032	NM_004928.3(CFAP410):c.643-39C>T	CFAP410	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174324	NM_004928.3(CFAP410):c.643-137G>T	CFAP410	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1311200	NM_004928.3(CFAP410):c.642+98T>G	CFAP410 (V246G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1165522	NM_004928.3(CFAP410):c.635G>A (p.Arg212Lys)	CFAP410 (R170K +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1272886	NM_004928.3(CFAP410):c.545+111_545+112del	CFAP410	Deletion (intron variant)	not provided	GBenign
Select item 784886	NM_004928.3(CFAP410):c.457G>A (p.Gly153Ser)	CFAP410 (G153S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 259587	NM_004928.3(CFAP410):c.449C>T (p.Thr150Ile)	CFAP410 (T150I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1269813	NM_004928.3(CFAP410):c.374-183G>T	CFAP410	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224254	NM_004928.3(CFAP410):c.373+231G>C	CFAP410	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 489375	NM_004928.3(CFAP410):c.355C>T (p.Gln119Ter)	CFAP410 (Q119* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1170736	NM_004928.3(CFAP410):c.350G>A (p.Arg117His)	CFAP410 (R117H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 438158	NM_004928.3(CFAP410):c.269G>C (p.Arg90Pro)	CFAP410 (R90P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 428573	NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro)	CFAP410 (R73P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 858756	NM_004928.3(CFAP410):c.209G>A (p.Arg70Gln)	CFAP410 (R70Q +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 373480	NM_004928.3(CFAP410):c.182G>A (p.Cys61Tyr)	CFAP410 (C61Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1288747	NM_004928.3(CFAP410):c.144-123A>G	CFAP410	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262939	NM_004928.3(CFAP410):c.144-129C>T	CFAP410	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249914	NM_004928.3(CFAP410):c.144-158A>G	CFAP410	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270721	NM_004928.3(CFAP410):c.97-83_97-65del	CFAP410	Deletion (intron variant)	not provided	GBenign
Select item 1289273	NM_004928.3(CFAP410):c.97-121C>T	CFAP410	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182011	NM_004928.3(CFAP410):c.96+172A>G	CFAP410	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 809297	NM_004928.3(CFAP410):c.96+6T>A	CFAP410	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1287226	NM_004928.3(CFAP410):c.78-81C>T	CFAP410	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226353	NM_004928.3(CFAP410):c.77+92A>C	CFAP410, LOC130066823	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294987	NM_004928.3(CFAP410):c.77+35G>T	CFAP410, LOC130066823	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1310977	NM_004928.3(CFAP410):c.76T>C (p.Trp26Arg)	CFAP410, LOC130066823 (W26R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 438159	NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs)	LOC130066823, CFAP410 (A12fs)	Insertion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic
Select item 259586	NM_004928.3(CFAP410):c.33G>A (p.Arg11=)	CFAP410, LOC130066823	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1267681	NM_004928.3(CFAP410):c.-120C>G	CFAP410, LOC130066823	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1266567	NC_000021.9:g.44339472T>C	CFAP410, LOC130066824	Single nucleotide variant	not provided	GBenign
Select item 1263231	NC_000021.9:g.44339603G>A	CFAP410	Single nucleotide variant	not provided	GBenign
Select item 1226222	NC_000021.9:g.44339627A>G	CFAP410	Single nucleotide variant	not provided	GBenign
Select item 253975	GRCh37/hg19 21q22.3(chr21:44264486-45945979)x1	RRP1B, LRRC3 +22 more	Copy number loss	See cases	GUncertain significance
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 3359658	NM_004928.3(CFAP410):c.621del (p.Ser208fs)	CFAP410 (S166fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance

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Items: 43