RFXAP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +211 more	Copy number gain	See cases	GPathogenic
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	ALG5, ALOX5AP +214 more	Copy number loss	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 58253	GRCh38/hg38 13q13.2-13.3(chr13:33754469-36942137)x3	CCDC169, CCDC169-SOHLH2 +53 more	Copy number gain	See cases	GUncertain significance
Select item 57640	GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1	ALG5, CCDC169 +146 more	Copy number loss	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 311778	NM_000538.3(RFXAP):c.-144G>A	LOC130009573, RFXAP	Single nucleotide variant	MHC class II deficiency	GUncertain significance
Select item 882186	NM_000538.3(RFXAP):c.-142T>C	RFXAP, LOC130009573	Single nucleotide variant	MHC class II deficiency	GUncertain significance
Select item 882187	NM_000538.4(RFXAP):c.-131C>T	LOC130009573, RFXAP	Single nucleotide variant (5 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 311779	NM_000538.4(RFXAP):c.-116C>G	LOC130009573, RFXAP	Single nucleotide variant (5 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 311780	NM_000538.4(RFXAP):c.-105C>A	LOC130009573, RFXAP	Single nucleotide variant (5 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 311781	NM_000538.4(RFXAP):c.-101T>G	LOC130009573, RFXAP	Single nucleotide variant (5 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 882431	NM_000538.4(RFXAP):c.-82G>C	LOC130009573, RFXAP	Single nucleotide variant (5 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 1029905	NM_000538.4(RFXAP):c.2T>C (p.Met1Thr)	LOC130009573, RFXAP (M1T)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 2113628	NM_000538.4(RFXAP):c.9G>C (p.Ala3=)	LOC130009573, RFXAP	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 1150620	NM_000538.4(RFXAP):c.9G>T (p.Ala3=)	LOC130009573, RFXAP	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 643242	NM_000538.4(RFXAP):c.14G>T (p.Gly5Val)	LOC130009573, RFXAP (G5V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 311782	NM_000538.4(RFXAP):c.15T>C (p.Gly5=)	LOC130009573, RFXAP	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GConflicting classifications of pathogenicity
Select item 2078364	NM_000538.4(RFXAP):c.20C>T (p.Ala7Val)	LOC130009573, RFXAP (A7V)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 471260	NM_000538.4(RFXAP):c.24G>A (p.Glu8=)	LOC130009573, RFXAP	Single nucleotide variant (synonymous variant)	MHC class II deficiency +1 more	GBenign/Likely benign
Select item 1006950	NM_000538.4(RFXAP):c.27C>T (p.Gly9=)	LOC130009573, RFXAP	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 1934234	NM_000538.4(RFXAP):c.29C>T (p.Ala10Val)	LOC130009573, RFXAP (A10V)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2130188	NM_000538.4(RFXAP):c.36G>T (p.Pro12=)	LOC130009573, RFXAP	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 1343495	NM_000538.4(RFXAP):c.39_40insAC (p.Ala14fs)	LOC130009573, RFXAP (A14fs)	Insertion (frameshift variant)	MHC class II deficiency	GLikely pathogenic
Select item 882432	NM_000538.4(RFXAP):c.44C>T (p.Ala15Val)	LOC130009573, RFXAP (A15V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1057973	NM_000538.4(RFXAP):c.51C>T (p.Gly17=)	LOC130009573, RFXAP	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GUncertain significance
Select item 1435335	NM_000538.4(RFXAP):c.52G>T (p.Val18Leu)	LOC130009573, RFXAP (V18L)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 1107611	NM_000538.4(RFXAP):c.54G>T (p.Val18=)	LOC130009573, RFXAP	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 1036692	NM_000538.4(RFXAP):c.55C>T (p.Pro19Ser)	LOC130009573, RFXAP (P19S)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 471261	NM_000538.4(RFXAP):c.58C>T (p.His20Tyr)	LOC130009573, RFXAP (H20Y)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 659872	NM_000538.4(RFXAP):c.59A>G (p.His20Arg)	LOC130009573, RFXAP (H20R)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2592097	NM_000538.4(RFXAP):c.70C>G (p.Leu24Val)	LOC130009573, RFXAP (L24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 311783	NM_000538.4(RFXAP):c.77C>G (p.Pro26Arg)	LOC130009573, RFXAP (P26R)	Single nucleotide variant (missense variant)	MHC class II deficiency	GConflicting classifications of pathogenicity
Select item 2815909	NM_000538.4(RFXAP):c.84G>A (p.Ala28=)	LOC130009573, RFXAP	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 1015139	NM_000538.4(RFXAP):c.101C>G (p.Pro34Arg)	LOC130009573, RFXAP (P34R)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 936518	NM_000538.4(RFXAP):c.108_125del (p.Val37_Ser42del)	LOC130009573, RFXAP	Deletion (inframe_deletion)	MHC class II deficiency	GUncertain significance
Select item 1126106	NM_000538.4(RFXAP):c.108G>C (p.Ser36=)	LOC130009573, RFXAP	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 1014499	NM_000538.4(RFXAP):c.115G>C (p.Ala39Pro)	LOC130009573, RFXAP (A39P)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2323766	NM_000538.4(RFXAP):c.118G>A (p.Ala40Thr)	LOC130009573, RFXAP (A40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1022745	NM_000538.4(RFXAP):c.118G>T (p.Ala40Ser)	LOC130009573, RFXAP (A40S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 538587	NM_000538.4(RFXAP):c.120_125dup (p.Ala41_Ser42dup)	LOC130009573, RFXAP	Duplication (inframe_insertion)	MHC class II deficiency	GLikely benign
Select item 755580	NM_000538.4(RFXAP):c.123C>T (p.Ala41=)	LOC130009573, RFXAP	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 566425	NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter)	LOC130009573, RFXAP (Q43*)	Single nucleotide variant (nonsense)	MHC class II deficiency +1 more	GPathogenic/Likely pathogenic
Select item 644661	NM_000538.4(RFXAP):c.129A>G (p.Gln43=)	LOC130009573, RFXAP	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2018257	NM_000538.4(RFXAP):c.135C>T (p.Thr45=)	LOC130009573, RFXAP	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2298233	NM_000538.4(RFXAP):c.146T>C (p.Met49Thr)	LOC130009573, RFXAP (M49T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1389541	NM_000538.4(RFXAP):c.148C>A (p.Gln50Lys)	RFXAP, LOC130009573 (Q50K)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 1653571	NM_000538.4(RFXAP):c.150A>G (p.Gln50=)	LOC130009573, RFXAP	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 850238	NM_000538.4(RFXAP):c.150A>T (p.Gln50His)	LOC130009573, RFXAP (Q50H)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 952517	NM_000538.4(RFXAP):c.152C>T (p.Pro51Leu)	LOC130009573, RFXAP (P51L)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2744217	NM_000538.4(RFXAP):c.154T>C (p.Cys52Arg)	RFXAP (C52R)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 1403543	NM_000538.4(RFXAP):c.160G>C (p.Gly54Arg)	RFXAP (G54R)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 7652	NM_000538.4(RFXAP):c.163C>T (p.Gln55Ter)	RFXAP (Q55*)	Single nucleotide variant (nonsense)	MHC class II deficiency 4	GPathogenic
Select item 836633	NM_000538.4(RFXAP):c.175G>A (p.Ala59Thr)	RFXAP (A59T)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2110111	NM_000538.4(RFXAP):c.180C>T (p.Ala60=)	RFXAP	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 1408189	NM_000538.4(RFXAP):c.182C>G (p.Pro61Arg)	RFXAP (P61R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1517339	NM_000538.4(RFXAP):c.184G>A (p.Gly62Arg)	RFXAP (G62R)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 1068569	NM_000538.4(RFXAP):c.188del (p.Gly63fs)	RFXAP (G63fs)	Deletion (frameshift variant)	MHC class II deficiency	GPathogenic
Select item 311784	NM_000538.4(RFXAP):c.192C>G (p.Ser64Arg)	RFXAP (S64R)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 1068494	NM_000538.4(RFXAP):c.203dup (p.Lys69fs)	RFXAP (K69fs)	Duplication (frameshift variant)	MHC class II deficiency	GPathogenic
Select item 857204	NM_000538.4(RFXAP):c.204C>T (p.Gly68=)	RFXAP	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GUncertain significance
Select item 2824800	NM_000538.4(RFXAP):c.214A>G (p.Arg72Gly)	RFXAP (R72G)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 3236737	NM_000538.4(RFXAP):c.219C>G (p.Tyr73Ter)	RFXAP	Single nucleotide variant (nonsense)	MHC class II deficiency 4	GPathogenic
Select item 471259	NM_000538.4(RFXAP):c.222G>A (p.Leu74=)	RFXAP	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2766121	NM_000538.4(RFXAP):c.227A>G (p.Glu76Gly)	RFXAP (E76G)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 847668	NM_000538.4(RFXAP):c.232G>C (p.Ala78Pro)	RFXAP (A78P)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 636582	NM_000538.4(RFXAP):c.234C>A (p.Ala78=)	RFXAP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 645743	NM_000538.4(RFXAP):c.236G>A (p.Gly79Glu)	RFXAP (G79E)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 578210	NM_000538.4(RFXAP):c.265G>C (p.Glu89Gln)	RFXAP (E89Q)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 1412370	NM_000538.4(RFXAP):c.273C>G (p.Asp91Glu)	RFXAP (D91E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 758344	NM_000538.4(RFXAP):c.276G>T (p.Leu92=)	RFXAP	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 849013	NM_000538.4(RFXAP):c.279A>C (p.Leu93Phe)	RFXAP (L93F)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 1943639	NM_000538.4(RFXAP):c.281A>C (p.Asp94Ala)	RFXAP (D94A)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 3065776	NM_000538.4(RFXAP):c.287C>A (p.Ser96Ter)	RFXAP (S96*)	Single nucleotide variant (nonsense)	MHC class II deficiency	GLikely pathogenic
Select item 1035098	NM_000538.4(RFXAP):c.287C>T (p.Ser96Leu)	RFXAP (S96L)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 1961433	NM_000538.4(RFXAP):c.290A>T (p.Asp97Val)	RFXAP (D97V)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 1473293	NM_000538.4(RFXAP):c.292C>A (p.Pro98Thr)	RFXAP (P98T)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 7649	NM_000538.4(RFXAP):c.302dup (p.Gly102fs)	RFXAP (G102fs)	Duplication (frameshift variant)	MHC class II deficiency 4	GPathogenic
Select item 2175424	NM_000538.4(RFXAP):c.297G>A (p.Pro99=)	RFXAP	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 538597	NM_000538.4(RFXAP):c.297G>C (p.Pro99=)	RFXAP	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign

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