25836[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59491	GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1	ACD, AGRP +176 more	Copy number loss	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 3154606	NM_024519.4(RIPOR1):c.-21A>T	RIPOR1 (S14C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3154560	NM_024519.4(RIPOR1):c.47G>C (p.Arg16Pro)	RIPOR1 (R36P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154566	NM_024519.4(RIPOR1):c.82G>A (p.Gly28Ser)	RIPOR1 (G48S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154567	NM_024519.4(RIPOR1):c.86G>T (p.Ser29Ile)	RIPOR1 (S49I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154571	NM_024519.4(RIPOR1):c.95G>A (p.Arg32Gln)	RIPOR1 (R46Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154573	NM_024519.4(RIPOR1):c.124C>T (p.Pro42Ser)	RIPOR1 (P42S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154576	NM_024519.4(RIPOR1):c.134C>T (p.Pro45Leu)	RIPOR1 (P45L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474187	NM_024519.4(RIPOR1):c.171G>T (p.Arg57Ser)	RIPOR1 (R61S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314531	NM_024519.4(RIPOR1):c.179C>T (p.Ser60Phe)	RIPOR1 (S60F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646622	NM_024519.4(RIPOR1):c.285G>A (p.Glu95=)	RIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3154601	NM_024519.4(RIPOR1):c.293A>G (p.Lys98Arg)	RIPOR1 (K102R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154607	NM_024519.4(RIPOR1):c.382T>C (p.Phe128Leu)	RIPOR1 (F128L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487332	NM_024519.4(RIPOR1):c.451C>T (p.Arg151Cys)	RIPOR1 (R165C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154608	NM_024519.4(RIPOR1):c.458G>A (p.Arg153Gln)	RIPOR1 (R167Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457279	NM_024519.4(RIPOR1):c.482G>A (p.Arg161His)	RIPOR1 (R161H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154609	NM_024519.4(RIPOR1):c.503C>T (p.Pro168Leu)	RIPOR1 (P182L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542673	NM_024519.4(RIPOR1):c.512G>A (p.Arg171Gln)	RIPOR1 (R191Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154610	NM_024519.4(RIPOR1):c.523G>T (p.Asp175Tyr)	RIPOR1 (D195Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468127	NM_024519.4(RIPOR1):c.610G>A (p.Glu204Lys)	RIPOR1 (E208K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154611	NM_024519.4(RIPOR1):c.707A>T (p.Lys236Ile)	RIPOR1 (K256I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154612	NM_024519.4(RIPOR1):c.923T>C (p.Ile308Thr)	RIPOR1 (I312T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154561	NM_024519.4(RIPOR1):c.1063C>T (p.Arg355Trp)	RIPOR1 (R369W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154562	NM_024519.4(RIPOR1):c.1064G>A (p.Arg355Gln)	RIPOR1 (R355Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154563	NM_024519.4(RIPOR1):c.1093C>T (p.Arg365Trp)	RIPOR1 (R385W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314533	NM_024519.4(RIPOR1):c.1105C>A (p.Leu369Met)	RIPOR1 (L369M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646623	NM_024519.4(RIPOR1):c.1149C>T (p.Asp383=)	RIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3154564	NM_024519.4(RIPOR1):c.1222G>A (p.Glu408Lys)	RIPOR1 (E408K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154565	NM_024519.4(RIPOR1):c.1297G>A (p.Val433Met)	RIPOR1 (V433M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154568	NM_024519.4(RIPOR1):c.1415G>A (p.Ser472Asn)	RIPOR1 (S492N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154569	NM_024519.4(RIPOR1):c.1460A>C (p.His487Pro)	RIPOR1 (H487P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154570	NM_024519.4(RIPOR1):c.1493T>C (p.Leu498Pro)	RIPOR1 (L498P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154572	NM_024519.4(RIPOR1):c.1705A>C (p.Thr569Pro)	RIPOR1 (T589P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512286	NM_024519.4(RIPOR1):c.1796C>T (p.Thr599Ile)	RIPOR1 (T599I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618386	NM_024519.4(RIPOR1):c.1811C>T (p.Thr604Ile)	RIPOR1 (T608I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314529	NM_024519.4(RIPOR1):c.1835C>T (p.Thr612Ile)	RIPOR1 (T612I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314532	NM_024519.4(RIPOR1):c.1889C>T (p.Thr630Ile)	RIPOR1 (T650I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486538	NM_024519.4(RIPOR1):c.1907C>T (p.Ser636Leu)	RIPOR1 (S640L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473069	NM_024519.4(RIPOR1):c.2014A>C (p.Ile672Leu)	LOC130059220, RIPOR1 (I676L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154577	NM_024519.4(RIPOR1):c.2111T>C (p.Leu704Pro)	RIPOR1 (L704P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154578	NM_024519.4(RIPOR1):c.2183G>C (p.Ser728Thr)	RIPOR1 (S728T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154579	NM_024519.4(RIPOR1):c.2243C>T (p.Thr748Met)	RIPOR1 (T748M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154580	NM_024519.4(RIPOR1):c.2249A>G (p.Gln750Arg)	RIPOR1 (Q754R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618759	NM_024519.4(RIPOR1):c.2302C>T (p.Leu768Phe)	RIPOR1 (L788F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154582	NM_024519.4(RIPOR1):c.2315T>C (p.Met772Thr)	RIPOR1 (M776T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154583	NM_024519.4(RIPOR1):c.2440C>G (p.Leu814Val)	RIPOR1 (L814V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314534	NM_024519.4(RIPOR1):c.2528T>G (p.Val843Gly)	RIPOR1 (V847G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154584	NM_024519.4(RIPOR1):c.2528T>C (p.Val843Ala)	RIPOR1 (V862A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555824	NM_024519.4(RIPOR1):c.2530G>A (p.Glu844Lys)	RIPOR1 (E858K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154585	NM_024519.4(RIPOR1):c.2701C>T (p.Arg901Trp)	RIPOR1 (R905W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314536	NM_024519.4(RIPOR1):c.2722C>T (p.Arg908Cys)	RIPOR1 (R922C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510327	NM_024519.4(RIPOR1):c.2836C>T (p.Arg946Trp)	RIPOR1 (R950W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154586	NM_024519.4(RIPOR1):c.2849C>T (p.Pro950Leu)	RIPOR1 (P950L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154587	NM_024519.4(RIPOR1):c.2891G>C (p.Arg964Pro)	RIPOR1 (R968P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475964	NM_024519.4(RIPOR1):c.2924C>G (p.Thr975Arg)	RIPOR1 (T995R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314528	NM_024519.4(RIPOR1):c.2944C>T (p.Leu982Phe)	RIPOR1 (L996F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049727	NM_024519.4(RIPOR1):c.2951C>T (p.Pro984Leu)	RIPOR1 (P1004L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2588179	NM_024519.4(RIPOR1):c.2960G>A (p.Arg987Gln)	RIPOR1 (R1001Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522146	NM_024519.4(RIPOR1):c.2995C>T (p.Arg999Cys)	RIPOR1 (R1003C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154589	NM_024519.4(RIPOR1):c.2996G>A (p.Arg999His)	RIPOR1 (R1013H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604383	NM_024519.4(RIPOR1):c.3051G>C (p.Glu1017Asp)	RIPOR1 (E1021D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314537	NM_024519.4(RIPOR1):c.3071T>G (p.Leu1024Arg)	RIPOR1 (L1038R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154590	NM_024519.4(RIPOR1):c.3080G>C (p.Arg1027Thr)	RIPOR1 (R1031T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494187	NM_024519.4(RIPOR1):c.3163G>A (p.Ala1055Thr)	RIPOR1 (A1059T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154591	NM_024519.4(RIPOR1):c.3202C>T (p.Arg1068Trp)	RIPOR1 (R1087W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314535	NM_024519.4(RIPOR1):c.3203G>A (p.Arg1068Gln)	RIPOR1 (R1072Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154592	NM_024519.4(RIPOR1):c.3254C>T (p.Ala1085Val)	RIPOR1 (A1089V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154593	NM_024519.4(RIPOR1):c.3265C>T (p.Arg1089Cys)	RIPOR1 (R1089C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154594	NM_024519.4(RIPOR1):c.3266G>A (p.Arg1089His)	RIPOR1 (R1108H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154596	NM_024519.4(RIPOR1):c.3286C>T (p.Arg1096Trp)	RIPOR1 (R1115W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646624	NM_024519.4(RIPOR1):c.3291C>T (p.Ala1097=)	RIPOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2539584	NM_024519.4(RIPOR1):c.3307G>A (p.Val1103Ile)	RIPOR1 (V1117I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540560	NM_024519.4(RIPOR1):c.3311A>G (p.His1104Arg)	RIPOR1 (H1124R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480524	NM_024519.4(RIPOR1):c.3337G>A (p.Val1113Ile)	RIPOR1 (V1127I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154597	NM_024519.4(RIPOR1):c.3352C>T (p.Arg1118Trp)	RIPOR1 (R1132W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489630	NM_024519.4(RIPOR1):c.3395T>C (p.Leu1132Pro)	RIPOR1 (L1132P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508979	NM_024519.4(RIPOR1):c.3398G>C (p.Cys1133Ser)	RIPOR1 (C1147S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518597	NM_024519.4(RIPOR1):c.3410A>G (p.Gln1137Arg)	RIPOR1 (Q1156R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154598	NM_024519.4(RIPOR1):c.3427G>A (p.Val1143Met)	RIPOR1 (V1162M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476826	NM_024519.4(RIPOR1):c.3439G>A (p.Val1147Met)	RIPOR1 (V1161M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602298	NM_024519.4(RIPOR1):c.3451C>G (p.Leu1151Val)	RIPOR1 (L1165V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154600	NM_024519.4(RIPOR1):c.3461G>A (p.Gly1154Asp)	RIPOR1 (G1158D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154602	NM_024519.4(RIPOR1):c.3541C>T (p.Arg1181Trp)	RIPOR1 (R1185W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154603	NM_024519.4(RIPOR1):c.3587G>A (p.Arg1196Gln)	RIPOR1 (R1210Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154604	NM_024519.4(RIPOR1):c.3601T>C (p.Ser1201Pro)	RIPOR1 (S1221P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154605	NM_024519.4(RIPOR1):c.3614T>C (p.Leu1205Pro)	RIPOR1 (L1205P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 2684809	GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3	ACD, AGRP +33 more	Copy number gain	not provided	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	AARS1, ACD +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance

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