ClinVar for Gene (Select 286464) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357223	NM_001304548.2(CFAP47):c.3961A>G (p.Ile1321Val)	CFAP47 (I1321V)	Single nucleotide variant (missense variant)	CFAP47-related disorder	GLikely benign
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 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3235121	Single allele	CFAP47, CYBB +22 more	Deletion	McLeod neuroacanthocytosis syndrome	GPathogenic
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 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062483	GRCh37/hg19 Xp21.1-11.4(chrX:33027159-39840641)	CFAP47, CYBB +17 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3055249	NM_001304548.2(CFAP47):c.7622A>G (p.Asn2541Ser)	CFAP47 (N2541S)	Single nucleotide variant (missense variant)	CFAP47-related disorder	GLikely benign
Select item 3055232	NM_001304548.2(CFAP47):c.2609G>A (p.Arg870Gln)	CFAP47 (R870Q)	Single nucleotide variant (missense variant)	CFAP47-related disorder	GLikely benign
Select item 3054256	NM_001304548.2(CFAP47):c.10C>T (p.Gln4Ter)	CFAP47 (Q4*)	Single nucleotide variant (nonsense)	CFAP47-related disorder	GLikely benign
Select item 3049118	NM_001304548.2(CFAP47):c.6304A>G (p.Ile2102Val)	CFAP47 (I2102V)	Single nucleotide variant (missense variant)	CFAP47-related disorder	GLikely benign
Select item 3043436	NM_001304548.2(CFAP47):c.2302A>T (p.Thr768Ser)	CFAP47 (T768S)	Single nucleotide variant (missense variant)	CFAP47-related disorder	GLikely benign
Select item 3037792	NM_001304548.2(CFAP47):c.4373A>T (p.Asp1458Val)	CFAP47 (D1458V)	Single nucleotide variant (missense variant)	CFAP47-related disorder	GLikely benign
Select item 3029429	NM_001304548.2(CFAP47):c.6520A>G (p.Asn2174Asp)	CFAP47 (N2174D)	Single nucleotide variant (missense variant)	CFAP47-related disorder	GLikely benign
Select item 3026493	NM_001304548.2(CFAP47):c.8315A>G (p.Glu2772Gly)	CFAP47 (E2772G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025917	NM_001304548.2(CFAP47):c.7848C>G (p.Gly2616=)	CFAP47	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024988	NM_001304548.2(CFAP47):c.1318T>C (p.Cys440Arg)	CFAP47 (C440R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2685701	GRCh37/hg19 Xp22.11-11.3(chrX:24633854-44236178)x1	XK, ARX +51 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
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 2660270	NM_001304548.2(CFAP47):c.8725C>T (p.Arg2909Trp)	CFAP47 (R2909W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660269	NM_001304548.2(CFAP47):c.8673A>G (p.Gln2891=)	CFAP47	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660268	NM_001304548.2(CFAP47):c.8246C>T (p.Thr2749Met)	CFAP47 (T2749M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660267	NM_001304548.2(CFAP47):c.7236G>A (p.Ser2412=)	CFAP47	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660266	NM_001304548.2(CFAP47):c.5127+7T>C	CFAP47	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660265	NM_001304548.2(CFAP47):c.4944C>A (p.Val1648=)	CFAP47	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660264	NM_001304548.2(CFAP47):c.4916+3A>G	CFAP47	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660263	NM_001304548.2(CFAP47):c.2983C>G (p.Leu995Val)	CFAP47 (L995V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660262	NM_001304548.2(CFAP47):c.2608C>T (p.Arg870Trp)	CFAP47 (R870W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660261	NM_001304548.2(CFAP47):c.1884A>G (p.Lys628=)	CFAP47	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660260	NM_001304548.2(CFAP47):c.1447G>T (p.Val483Phe)	CFAP47 (V483F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660259	NM_001304548.2(CFAP47):c.1170C>G (p.Ile390Met)	CFAP47 (I390M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2633679	NM_001304548.2(CFAP47):c.8813C>T (p.Pro2938Leu)	CFAP47 (P2938L)	Single nucleotide variant (missense variant)	CFAP47-related disorder	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
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 2443913	NM_001304548.2(CFAP47):c.[1337C>T;706G>A]	CFAP47	Single nucleotide variant (missense variant)	Spermatogenic failure, X-linked, 3	GPathogenic
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 2400823	NM_001304548.2(CFAP47):c.1492G>A (p.Glu498Lys)	CFAP47 (E498K)	Single nucleotide variant (missense variant)	not specified	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 2386117	NM_001304548.2(CFAP47):c.2501C>T (p.Pro834Leu)	CFAP47 (P834L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259583	NM_001304548.2(CFAP47):c.1696G>T (p.Ala566Ser)	CFAP47 (A566S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256128	NM_001304548.2(CFAP47):c.802A>G (p.Lys268Glu)	CFAP47 (K268E)	Single nucleotide variant (missense variant)	not specified	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 2244435	NM_001304548.2(CFAP47):c.2401G>A (p.Val801Met)	CFAP47 (V801M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244367	NM_001304548.2(CFAP47):c.4366T>C (p.Tyr1456His)	CFAP47 (Y1456H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243706	NM_001304548.2(CFAP47):c.265A>T (p.Thr89Ser)	CFAP47 (T89S)	Single nucleotide variant (missense variant)	not specified	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 2234781	NM_001304548.2(CFAP47):c.1316A>C (p.Gln439Pro)	CFAP47 (Q439P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233338	NM_001304548.2(CFAP47):c.973A>T (p.Ile325Phe)	CFAP47 (I325F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232302	NM_001304548.2(CFAP47):c.154A>T (p.Thr52Ser)	CFAP47 (T52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215591	NM_001304548.2(CFAP47):c.1285C>T (p.Arg429Cys)	CFAP47 (R429C)	Single nucleotide variant (missense variant)	not specified	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 1808493	GRCh37/hg19 Xp21.1(chrX:32419533-37487291)x1	CFAP47, CXorf22 +9 more	Copy number loss	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1676151	NM_001304548.2(CFAP47):c.2890A>G (p.Ser964Gly)	CFAP47 (S964G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341305	GRCh37/hg19 Xp21.1(chrX:36144469-36710355)x2	CFAP47, CXorf30	Copy number gain	not provided	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1340266	GRCh37/hg19 Xp21.1(chrX:36009379-36277712)x2	CFAP47, CXorf30	Copy number gain	not provided	GUncertain significance
Select item 1339829	GRCh37/hg19 Xp21.1(chrX:34628048-37181355)x0	CFAP47, CXorf22 +5 more	Copy number loss	not provided	Gnot provided
Select item 1335759	NM_001304548.2(CFAP47):c.3652-4G>C	CFAP47	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1335758	NM_001304548.2(CFAP47):c.805C>T (p.His269Tyr)	CFAP47 (H269Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
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 996917	NM_001304548.2(CFAP47):c.5224A>G (p.Ser1742Gly)	CFAP47 (S1742G)	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 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 975141	Single allele	CFAP47, CXorf22 +14 more	Deletion	Retinitis pigmentosa 3	GPathogenic
Select item 833473	NC_000023.10:g.(?_30326313)_(41000684_?)del	ATP6AP2, BCOR +28 more	Deletion	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 816337	GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1	ATP6AP2, BCOR +32 more	Copy number loss	not provided	GPathogenic
Select item 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +268 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 685565	GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	RBBP7, RBM10 +316 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic
Select item 684963	GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1	ACE2, ACOT9 +139 more	Copy number loss	not provided	GPathogenic
Select item 638115	GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	ACE2, ACOT9 +257 more	Copy number loss	See cases	GPathogenic
Select item 635934	Single allele	SUPT20HL2, SYAP1 +177 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 564828	GRCh37/hg19 Xp21.1(chrX:35851273-36329022)x3	CXorf30, CFAP47 +1 more	Copy number gain	not provided	GLikely benign
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	RPS6KA6, UPRT +413 more	Copy number gain	not provided	GPathogenic
Select item 564696	GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1	ACE2, ACOT9 +170 more	Copy number loss	not provided	GPathogenic
Select item 564695	GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1	ACE2, ACOT9 +154 more	Copy number loss	not provided	GPathogenic
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	EIF1AX, EIF2S3 +539 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	PNMA5, PNMA6A +695 more	Copy number loss	See cases	GPathogenic
Select item 443322	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	ACE2, ACOT9 +314 more	Copy number loss	See cases	GPathogenic
Select item 443028	GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	SYN1, SYP +294 more	Copy number loss	See cases	GPathogenic

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