"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC127898 - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033995	NM_001164496.2(CFAP44):c.5451G>A (p.Ala1817=)	CFAP44, LOC127898559	Single nucleotide variant (non-coding transcript variant +1 more)	CFAP44-related disorder	GLikely benign
Select item 717618	NM_001164496.2(CFAP44):c.5418A>G (p.Arg1806=)	CFAP44, LOC127898559	Single nucleotide variant (synonymous variant)	CFAP44-related disorder +1 more	GBenign/Likely benign
Select item 773132	NM_001164496.2(CFAP44):c.3942T>A (p.Asp1314Glu)	CFAP44, LOC127898559 (D1314E)	Single nucleotide variant (missense variant)	CFAP44-related disorder +1 more	GBenign/Likely benign
Select item 708883	NM_001164496.2(CFAP44):c.3915A>G (p.Gly1305=)	CFAP44, LOC127898559	Single nucleotide variant (synonymous variant)	CFAP44-related disorder +1 more	GBenign/Likely benign
Select item 3051590	NM_001164496.2(CFAP44):c.3762C>T (p.Pro1254=)	CFAP44, LOC127898559	Single nucleotide variant (non-coding transcript variant +1 more)	CFAP44-related disorder	GLikely benign
Select item 731086	NM_001164496.2(CFAP44):c.3615+8T>C	CFAP44, LOC127898559	Single nucleotide variant (intron variant)	CFAP44-related disorder +1 more	GLikely benign
Select item 731431	NM_001164496.2(CFAP44):c.2976A>G (p.Arg992=)	CFAP44, LOC127898559	Single nucleotide variant (synonymous variant)	CFAP44-related disorder +1 more	GLikely benign
Select item 3035896	NM_001164496.2(CFAP44):c.2844G>A (p.Lys948=)	CFAP44, LOC127898559	Single nucleotide variant (non-coding transcript variant +1 more)	CFAP44-related disorder	GLikely benign
Select item 3046196	NM_001164496.2(CFAP44):c.2716-8T>C	CFAP44, LOC127898559	Single nucleotide variant (intron variant)	CFAP44-related disorder	GLikely benign
Select item 716190	NM_001164496.2(CFAP44):c.2679A>G (p.Leu893=)	CFAP44, LOC127898559	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2632408	NM_001164496.2(CFAP44):c.2616del (p.Leu873fs)	CFAP44, LOC127898559 (L873fs)	Deletion (non-coding transcript variant +1 more)	CFAP44-related disorder	GLikely pathogenic
Select item 3038204	NM_001164496.2(CFAP44):c.2458A>G (p.Met820Val)	CFAP44, LOC127898559 (M820V)	Single nucleotide variant (non-coding transcript variant +1 more)	CFAP44-related disorder	GBenign
Select item 711370	NM_001164496.2(CFAP44):c.2337C>A (p.Phe779Leu)	CFAP44, LOC127898559 (F779L)	Single nucleotide variant (missense variant)	CFAP44-related disorder +1 more	GBenign/Likely benign
Select item 3048518	NM_001164496.2(CFAP44):c.1570-5C>T	CFAP44, LOC127898559	Single nucleotide variant (intron variant)	CFAP44-related disorder	GLikely benign
Select item 710199	NM_001164496.2(CFAP44):c.1426G>A (p.Val476Met)	LOC127898559, CFAP44 (V476M)	Single nucleotide variant (missense variant)	CFAP44-related disorder +1 more	GLikely benign
Select item 3057286	NM_001164496.2(CFAP44):c.1327-3dup	CFAP44, LOC127898559	Duplication (intron variant)	CFAP44-related disorder	GLikely benign