Related gene-specific medical variations for Gene (Select 286464) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341690	NM_001304548.2(CFAP47):c.9509T>C (p.Ile3170Thr)	CFAP47, LOC101928627 (I3170T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3065086	NM_001304548.2(CFAP47):c.8205C>A (p.Phe2735Leu)	CFAP47 (F2735L)	Single nucleotide variant (missense variant)	Spermatogenic failure, X-linked, 3	GUncertain significance
Select item 2660271	NM_001304548.2(CFAP47):c.9090C>T (p.Ile3030=)	CFAP47, LOC101928627	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2446402	NM_001304548.2(CFAP47):c.706G>A (p.Val236Met)	CFAP47	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2446401	NM_001304548.2(CFAP47):c.1337C>T (p.Thr446Met)	CFAP47	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2439925	NM_001304548.2(CFAP47):c.6709G>A (p.Val2237Ile)	CFAP47 (V2237I)	Single nucleotide variant (missense variant)	Spermatogenic failure, X-linked, 3	GUncertain significance
Select item 2402756	NM_001304548.2(CFAP47):c.9295A>G (p.Thr3099Ala)	CXorf30, LOC101928627 +1 more (T3099A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395501	NM_001304548.2(CFAP47):c.8540C>T (p.Thr2847Met)	CXorf30, CFAP47 (T2847M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2245784	NM_001304548.2(CFAP47):c.9107C>T (p.Thr3036Met)	CXorf30, LOC101928627 +1 more (T3036M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241966	NM_001304548.2(CFAP47):c.9074T>G (p.Phe3025Cys)	LOC101928627, CXorf30 +1 more (F3025C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215099	NM_001304548.2(CFAP47):c.8673A>C (p.Gln2891His)	CFAP47, CXorf30 (Q2891H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 996918	NM_001304548.2(CFAP47):c.8668C>A (p.Pro2890Thr)	CXorf30, CFAP47 (P2890T)	Single nucleotide variant (missense variant)	Spermatogenic failure, X-linked, 3	GPathogenic
Select item 996916	NM_001304548.2(CFAP47):c.7154T>A (p.Ile2385Asn)	CXorf30, CFAP47 (I2385N)	Single nucleotide variant (missense variant)	Spermatogenic failure, X-linked, 3	GPathogenic
Select item 994212	NM_001304548.2(CFAP47):c.4694A>T (p.Asp1565Val)	CFAP47 (D1565V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 441967	GRCh37/hg19 Xp21.1(chrX:36101524-36607480)x3	CFAP47	Copy number gain	See cases	GLikely benign