ClinVar for Gene (Select 200373) - ClinVar - NCBI

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Links from Gene

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356215	NM_001271049.2(CFAP221):c.1134-10_1134-9dup	CFAP221	Duplication (intron variant)	CFAP221-related disorder	GLikely benign
Select item 3033645	NM_001271049.2(CFAP221):c.1547G>A (p.Arg516Gln)	CFAP221 (R516Q)	Single nucleotide variant (missense variant +1 more)	CFAP221-related disorder	GLikely benign
Select item 2651307	NM_001271049.2(CFAP221):c.2224A>T (p.Ser742Cys)	CFAP221 (S742C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2651306	NM_001271049.2(CFAP221):c.1297C>T (p.Arg433Cys)	CFAP221 (R433C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2651305	NM_001271049.2(CFAP221):c.838G>A (p.Val280Ile)	CFAP221 (V280I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2651304	NM_001271049.2(CFAP221):c.632-7C>G	CFAP221	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1344698	NM_001271049.2(CFAP221):c.2318+1G>A	CFAP221	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 1344697	NM_001271049.2(CFAP221):c.2303_2307del (p.Leu768fs)	CFAP221 (L768fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 155658	GRCh38/hg38 2q14.2-14.3(chr2:118687829-121621814)x1	C1QL2, C2orf76 +92 more	Copy number loss	See cases	GPathogenic
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic