8625[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 328633	NM_003721.3(RFXANK):c.-495C>G	RFXANK	Single nucleotide variant	MHC class II deficiency	GUncertain significance
Select item 328634	NM_003721.4(RFXANK):c.-366C>A	RFXANK	Single nucleotide variant (5 prime UTR variant)	MHC class II deficiency	GLikely benign
Select item 328635	NM_003721.4(RFXANK):c.-328G>A	RFXANK	Single nucleotide variant (5 prime UTR variant)	MHC class II deficiency +1 more	GLikely benign
Select item 328636	NM_003721.4(RFXANK):c.-298C>T	RFXANK	Single nucleotide variant (5 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 328637	NM_003721.4(RFXANK):c.-240A>T	RFXANK	Single nucleotide variant (5 prime UTR variant)	MHC class II deficiency	GLikely benign
Select item 328638	NM_003721.4(RFXANK):c.-229C>T	RFXANK	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 328639	NM_003721.4(RFXANK):c.-116T>C	RFXANK	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 3233366	NM_003721.4(RFXANK):c.6delinsCTTA (p.Glu2delinsAspLeu)	RFXANK	Indel (inframe_indel)	MHC class II deficiency 5	GUncertain significance
Select item 3362569	NM_003721.4(RFXANK):c.8_11del (p.Leu3fs)	RFXANK (L3fs)	Deletion (frameshift variant)	MHC class II deficiency 1	GLikely pathogenic
Select item 1984650	NM_003721.4(RFXANK):c.25G>A (p.Asp9Asn)	RFXANK (D9N)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 1512079	NM_003721.4(RFXANK):c.28C>G (p.Leu10Val)	RFXANK (L10V)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 1509083	NM_003721.4(RFXANK):c.31A>T (p.Ile11Phe)	RFXANK (I11F)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 958608	NM_003721.4(RFXANK):c.37A>T (p.Thr13Ser)	RFXANK (T13S)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 1456689	NM_003721.4(RFXANK):c.39C>A (p.Thr13=)	RFXANK	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 1387673	NM_003721.4(RFXANK):c.47C>T (p.Thr16Ile)	RFXANK (T16I)	Single nucleotide variant (missense variant)	MHC class II deficiency +1 more	GUncertain significance
Select item 969977	NM_003721.4(RFXANK):c.47C>A (p.Thr16Asn)	RFXANK (T16N)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 653317	NM_003721.4(RFXANK):c.49C>G (p.Pro17Ala)	RFXANK (P17A)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2915885	NM_003721.4(RFXANK):c.51T>C (p.Pro17=)	RFXANK	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2144789	NM_003721.4(RFXANK):c.51T>A (p.Pro17=)	RFXANK	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 3153530	NM_003721.4(RFXANK):c.59A>G (p.Glu20Gly)	RFXANK (E20G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1422653	NM_003721.4(RFXANK):c.62T>C (p.Leu21Pro)	RFXANK (L21P)	Single nucleotide variant (missense variant)	MHC class II deficiency +1 more	GUncertain significance
Select item 1018685	NM_003721.4(RFXANK):c.64G>C (p.Gly22Arg)	RFXANK (G22R)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2101799	NM_003721.4(RFXANK):c.77A>G (p.Asp26Gly)	RFXANK (D26G)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2053947	NM_003721.4(RFXANK):c.81C>T (p.Pro27=)	RFXANK	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 1424556	NM_003721.4(RFXANK):c.82G>A (p.Gly28Arg)	RFXANK (G28R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3153532	NM_003721.4(RFXANK):c.89A>G (p.Glu30Gly)	RFXANK (E30G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 538593	NM_003721.4(RFXANK):c.95C>T (p.Ala32Val)	RFXANK (A32V)	Single nucleotide variant (missense variant)	MHC class II deficiency	GConflicting classifications of pathogenicity
Select item 2820728	NM_003721.4(RFXANK):c.108C>T (p.Asp36=)	RFXANK	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 1052701	NM_003721.4(RFXANK):c.112G>A (p.Val38Met)	RFXANK (V38M)	Single nucleotide variant (missense variant)	MHC class II deficiency +1 more	GUncertain significance
Select item 2987435	NM_003721.4(RFXANK):c.117C>T (p.Val39=)	RFXANK	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 3153528	NM_003721.4(RFXANK):c.128T>C (p.Phe43Ser)	RFXANK (F43S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 764079	NM_003721.4(RFXANK):c.132C>T (p.Pro44=)	RFXANK	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 328640	NM_003721.4(RFXANK):c.144G>C (p.Glu48Asp)	RFXANK (E48D)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 2059546	NM_003721.4(RFXANK):c.148G>A (p.Val50Met)	RFXANK (V50M)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 857686	NM_003721.4(RFXANK):c.155C>T (p.Pro52Leu)	RFXANK (P52L)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 3153529	NM_003721.4(RFXANK):c.161C>T (p.Pro54Leu)	RFXANK (P54L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3236742	NM_003721.4(RFXANK):c.163del (p.Asp55fs)	RFXANK (D55fs)	Deletion (frameshift variant)	MHC class II deficiency 2	GPathogenic
Select item 1010303	NM_003721.4(RFXANK):c.162G>A (p.Pro54=)	RFXANK	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2711450	NM_003721.4(RFXANK):c.169A>G (p.Ser57Gly)	RFXANK (S57G)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 1386102	NM_003721.4(RFXANK):c.175T>G (p.Ser59Ala)	RFXANK (S59A)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 892111	NM_003721.4(RFXANK):c.179C>T (p.Ser60Phe)	RFXANK (S60F)	Single nucleotide variant (missense variant)	MHC class II deficiency +1 more	GUncertain significance
Select item 1940926	NM_003721.4(RFXANK):c.183A>G (p.Pro61=)	RFXANK	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 567413	NM_003721.4(RFXANK):c.187G>A (p.Ala63Thr)	RFXANK (A63T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1622393	NM_003721.4(RFXANK):c.187+9C>G	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 328641	NM_003721.4(RFXANK):c.187+13C>T	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency	GConflicting classifications of pathogenicity
Select item 2688128	NM_003721.4(RFXANK):c.187+23A>G	RFXANK	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3036806	NM_003721.4(RFXANK):c.188-21C>T	RFXANK	Single nucleotide variant (intron variant)	RFXANK-related disorder	GLikely benign
Select item 2912425	NM_003721.4(RFXANK):c.188-20G>A	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2904037	NM_003721.4(RFXANK):c.188-19C>G	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 1528758	NM_003721.4(RFXANK):c.188-19C>T	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency +1 more	GLikely benign
Select item 1553957	NM_003721.4(RFXANK):c.188-17T>C	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2123968	NM_003721.4(RFXANK):c.188-15T>C	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 800993	NM_003721.4(RFXANK):c.188-11C>T	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency +1 more	GBenign/Likely benign
Select item 2918728	NM_003721.4(RFXANK):c.188-10T>C	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 1504417	NM_003721.4(RFXANK):c.188-2del	RFXANK	Deletion (splice acceptor variant +1 more)	MHC class II deficiency	GLikely pathogenic
Select item 835732	NM_003721.4(RFXANK):c.191G>T (p.Gly64Val)	RFXANK (G64V +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2634018	NM_003721.4(RFXANK):c.194_198del (p.Ser65fs)	RFXANK (S64fs +1 more)	Deletion (frameshift variant)	RFXANK-related disorder	GLikely pathogenic
Select item 328642	NM_003721.4(RFXANK):c.213C>T (p.Thr71=)	RFXANK	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1094948	NM_003721.4(RFXANK):c.216T>G (p.Thr72=)	RFXANK	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 642483	NM_003721.4(RFXANK):c.226C>T (p.Arg76Trp)	RFXANK (R76W +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 1101188	NM_003721.4(RFXANK):c.228G>T (p.Arg76=)	RFXANK	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 847978	NM_003721.4(RFXANK):c.232C>T (p.Arg78Ter)	RFXANK (R78* +1 more)	Single nucleotide variant (nonsense)	MHC class II deficiency	GPathogenic
Select item 653325	NM_003721.4(RFXANK):c.233G>A (p.Arg78Gln)	RFXANK (R78Q +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 328643	NM_003721.4(RFXANK):c.240C>T (p.Asn80=)	RFXANK	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GConflicting classifications of pathogenicity
Select item 659981	NM_003721.4(RFXANK):c.241G>A (p.Glu81Lys)	RFXANK (E80K +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 844630	NM_003721.4(RFXANK):c.257C>T (p.Pro86Leu)	RFXANK (P85L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 749658	NM_003721.4(RFXANK):c.258G>C (p.Pro86=)	RFXANK	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 571767	NM_003721.4(RFXANK):c.266_268del (p.Leu89_Asp90delinsHis)	RFXANK	Deletion (inframe_indel)	MHC class II deficiency	GUncertain significance
Select item 573785	NM_003721.4(RFXANK):c.271_271+1insCTGCC	RFXANK	Insertion (splice donor variant)	MHC class II deficiency	GPathogenic
Select item 992971	NM_003721.4(RFXANK):c.271+1delinsTCAC	RFXANK	Indel (splice donor variant)	MHC class II deficiency	GPathogenic
Select item 6599	NM_003721.4(RFXANK):c.271+1G>C	RFXANK	Single nucleotide variant (splice donor variant)	MHC class II deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2890009	NM_003721.4(RFXANK):c.271+17T>A	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 3011261	NM_003721.4(RFXANK):c.272-20C>G	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 1572518	NM_003721.4(RFXANK):c.272-17C>T	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 1552977	NM_003721.4(RFXANK):c.272-16C>T	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 1077282	NM_003721.4(RFXANK):c.272-4C>G	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 1365353	NM_003721.4(RFXANK):c.272-3C>T	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency	GUncertain significance
Select item 2122579	NM_003721.4(RFXANK):c.280A>G (p.Ile94Val)	RFXANK (I93V +1 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GBenign
Select item 1504336	NM_003721.4(RFXANK):c.285C>G (p.His95Gln)	RFXANK (H95Q +1 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 946211	NM_003721.4(RFXANK):c.287A>G (p.Gln96Arg)	RFXANK (Q95R +1 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 1551966	NM_003721.4(RFXANK):c.291C>T (p.Leu97=)	RFXANK	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 845021	NM_003721.4(RFXANK):c.292G>A (p.Ala98Thr)	RFXANK (A97T +1 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 888664	NM_003721.4(RFXANK):c.299A>G (p.Gln100Arg)	RFXANK (Q99R +1 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 1445230	NM_003721.4(RFXANK):c.305A>T (p.Glu102Val)	RFXANK (E102V +1 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 574851	NM_003721.4(RFXANK):c.331C>T (p.Arg111Trp)	RFXANK (R111W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 538586	NM_003721.4(RFXANK):c.332G>A (p.Arg111Gln)	RFXANK (R111Q +1 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency +1 more	GUncertain significance
Select item 1067781	NM_003721.4(RFXANK):c.337+2_337+3del	RFXANK	Deletion (splice donor variant +1 more)	MHC class II deficiency	GLikely pathogenic
Select item 252622	NM_003721.4(RFXANK):c.337+4C>T	RFXANK	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 583327	NM_003721.4(RFXANK):c.337+5G>A	RFXANK	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2059120	NM_003721.4(RFXANK):c.337+16C>T	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 1605933	NM_003721.4(RFXANK):c.337+17_337+18del	RFXANK	Deletion (intron variant)	MHC class II deficiency	GLikely benign
Select item 2785722	NM_003721.4(RFXANK):c.337+18T>C	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 1435455	NM_003721.4(RFXANK):c.338-25_338del	RFXANK	Deletion (splice acceptor variant)	MHC class II deficiency +1 more	GPathogenic
Select item 2883869	NM_003721.4(RFXANK):c.338-16C>T	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2957809	NM_003721.4(RFXANK):c.338-15G>C	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 1456970	NM_003721.4(RFXANK):c.338-15G>A	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign

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