MVD[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	ACSF3, ADAD2 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC130059708, LOC130059709 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 646964	NC_000016.9:g.(?_88709737)_(88718353_?)dup	CYBA, LOC130059739 +1 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GUncertain significance
Select item 1168175	NM_002461.3(MVD):c.*580G>A	CYBA, MVD	Single nucleotide variant (3 prime UTR variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GBenign
Select item 2286713	NM_002461.3(MVD):c.1187C>G (p.Pro396Arg)	MVD (P396R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 995975	NM_002461.3(MVD):c.1136C>A (p.Pro379His)	MVD (P379H)	Single nucleotide variant (missense variant)	Nonsyndromic hearing impairment	GUncertain significance
Select item 790328	NM_002461.3(MVD):c.1104A>G (p.Lys368=)	MVD	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1050663	NM_002461.3(MVD):c.1085C>T (p.Pro362Leu)	MVD (P362L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498675	NM_002461.3(MVD):c.1070C>T (p.Ala357Val)	MVD (A357V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2462122	NM_002461.3(MVD):c.1060C>G (p.Leu354Val)	MVD (L354V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050507	NM_002461.3(MVD):c.1055C>G (p.Ala352Gly)	MVD (A352G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3055645	NM_002461.3(MVD):c.1014-8T>G	MVD	Single nucleotide variant (intron variant)	MVD-related disorder	GBenign
Select item 1342402	NM_002461.3(MVD):c.1013+5G>T	MVD	Single nucleotide variant (intron variant)	Porokeratosis 7, multiple types	GUncertain significance
Select item 1323302	NM_002461.3(MVD):c.1013+1G>T	MVD	Single nucleotide variant (splice donor variant)	Porokeratosis 7, multiple types	GPathogenic
Select item 2610011	NM_002461.3(MVD):c.1012A>G (p.Thr338Ala)	MVD (T338A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3034091	NM_002461.3(MVD):c.1002G>A (p.Ser334=)	MVD	Single nucleotide variant (synonymous variant)	MVD-related disorder	GLikely benign
Select item 2546225	NM_002461.3(MVD):c.1001C>T (p.Ser334Leu)	MVD (S334L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548786	NM_002461.3(MVD):c.959C>T (p.Ala320Val)	MVD (A320V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403920	NM_002461.3(MVD):c.886G>A (p.Gly296Arg)	MVD (G296R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 253040	NM_002461.3(MVD):c.875A>G (p.Asn292Ser)	MVD (N292S)	Single nucleotide variant (missense variant)	Porokeratosis 7, multiple types	GPathogenic
Select item 2556018	NM_002461.3(MVD):c.874A>C (p.Asn292His)	MVD (N292H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1344672	NM_002461.3(MVD):c.811_815del (p.Phe271fs)	MVD (F271fs)	Deletion (frameshift variant)	Linear porokeratosis	GLikely pathogenic
Select item 2533722	NM_002461.3(MVD):c.770T>C (p.Met257Thr)	MVD (M257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 253039	NM_002461.3(MVD):c.746T>C (p.Phe249Ser)	MVD (F249S)	Single nucleotide variant (missense variant)	Porokeratosis 7, multiple types	GPathogenic
Select item 2454915	NM_002461.3(MVD):c.694G>A (p.Val232Met)	MVD (V232M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254871	NM_002461.3(MVD):c.694G>C (p.Val232Leu)	MVD (V232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358332	NM_002461.3(MVD):c.688G>A (p.Glu230Lys)	MVD (E230K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408839	NM_002461.3(MVD):c.677G>T (p.Arg226Leu)	MVD (R226L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2513235	NM_002461.3(MVD):c.676C>T (p.Arg226Trp)	MVD (R226W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474323	NM_002461.3(MVD):c.666C>A (p.Ser222Arg)	MVD (S222R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049749	NM_002461.3(MVD):c.650C>G (p.Ala217Gly)	MVD (A217G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3151578	NM_002461.3(MVD):c.637G>A (p.Val213Met)	MVD (V213M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047638	NM_002461.3(MVD):c.604-9C>T	MVD	Single nucleotide variant (intron variant)	MVD-related disorder	GLikely benign
Select item 2557636	NM_002461.3(MVD):c.592C>T (p.Leu198Phe)	MVD (L198F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151568	NM_002461.3(MVD):c.565G>A (p.Glu189Lys)	MVD (E189K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258469	NM_002461.3(MVD):c.550C>T (p.Arg184Trp)	MVD (R184W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151561	NM_002461.3(MVD):c.529G>A (p.Asp177Asn)	MVD (D177N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040032	NM_002461.3(MVD):c.528C>T (p.Ala176=)	MVD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3151558	NM_002461.3(MVD):c.521A>G (p.Glu174Gly)	MVD (E174G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151554	NM_002461.3(MVD):c.514A>T (p.Met172Leu)	MVD (M172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151550	NM_002461.3(MVD):c.481C>T (p.Arg161Trp)	MVD (R161W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041656	NM_002461.3(MVD):c.460C>T (p.Arg154Trp)	MVD (R154W)	Single nucleotide variant (missense variant)	MVD-related disorder	GBenign
Select item 3151544	NM_002461.3(MVD):c.412C>G (p.Leu138Val)	MVD (L138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207638	NM_002461.3(MVD):c.386C>T (p.Ala129Val)	MVD (A129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1305389	NM_002461.3(MVD):c.359C>T (p.Thr120Met)	MVD (T120M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412900	NM_002461.3(MVD):c.352T>C (p.Phe118Leu)	MVD (F118L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3151535	NM_002461.3(MVD):c.334G>A (p.Val112Met)	MVD (V112M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151529	NM_002461.3(MVD):c.314G>T (p.Ser105Ile)	MVD (S105I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265263	NM_002461.3(MVD):c.304C>A (p.Leu102Met)	MVD (L102M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251069	NM_002461.3(MVD):c.293A>C (p.Asp98Ala)	MVD (D98A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151519	NM_002461.3(MVD):c.290G>A (p.Arg97Gln)	MVD (R97Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258698	NM_002461.3(MVD):c.251G>A (p.Arg84Gln)	MVD (R84Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1321178	NM_002461.3(MVD):c.232C>A (p.Arg78=)	MVD	Single nucleotide variant (synonymous variant)	MVD-related disorder +1 more	GBenign
Select item 790170	NM_002461.3(MVD):c.231G>A (p.Pro77=)	MVD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2316161	NM_002461.3(MVD):c.224G>T (p.Gly75Val)	MVD (G75V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407108	NM_002461.3(MVD):c.209G>A (p.Arg70Gln)	MVD (R70Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597016	NM_002461.3(MVD):c.163G>A (p.Val55Ile)	MVD (V55I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301637	NM_002461.3(MVD):c.141+1del	MVD	Deletion (splice donor variant)	Porokeratosis 7, multiple types	GPathogenic
Select item 638465	NM_002461.3(MVD):c.128T>C (p.Leu43Pro)	MVD (L43P)	Single nucleotide variant (missense variant)	Porokeratosis 7, multiple types	GUncertain significance
Select item 2369151	NM_002461.3(MVD):c.105C>G (p.Ile35Met)	MVD (I35M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341434	NM_002461.3(MVD):c.82G>A (p.Asp28Asn)	MVD (D28N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612707	NM_002461.3(MVD):c.79C>A (p.Arg27Ser)	MVD (R27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151647	GRCh38/hg38 16q24.2-24.3(chr16:88662702-88719577)x1	CTU2, LOC130059740 +16 more	Copy number loss	See cases	GBenign
Select item 59539	GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1	ACSF3, ANKRD11 +113 more	Copy number loss	See cases	GPathogenic
Select item 1344813	NM_002461.3(MVD):c.70+5G>A	LOC130059740, MVD	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2536431	NM_002461.3(MVD):c.61A>C (p.Ile21Leu)	LOC130059740, MVD (I21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321665	NM_002461.3(MVD):c.26C>T (p.Ala9Val)	LOC130059740, MVD (A9V)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 3151505	NM_002461.3(MVD):c.17C>A (p.Pro6Gln)	LOC130059740, MVD (P6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030283	NM_002461.3(MVD):c.-8G>A	LOC130059740, MVD	Single nucleotide variant (5 prime UTR variant)	MVD-related disorder	GLikely benign
Select item 3063445	GRCh37/hg19 16q24.2-24.3(chr16:88445361-88818583)x3	CTU2, CYBA +8 more	Copy number gain	not specified	GUncertain significance
Select item 3063444	GRCh37/hg19 16q24.2-24.3(chr16:88153961-89104917)x1	APRT, CBFA2T3 +14 more	Copy number loss	not specified	GUncertain significance
Select item 3024606	GRCh37/hg19 16q24.2-24.3(chr16:87866576-89424113)x1	ACSF3, ANKRD11 +22 more	Copy number loss	not provided	GPathogenic
Select item 2685589	GRCh37/hg19 16q24.2-24.3(chr16:88647290-88859285)x1	CTU2, CYBA +6 more	Copy number loss	not provided	GUncertain significance
Select item 2685587	GRCh37/hg19 16q24.2-24.3(chr16:88067200-89460290)x1	ACSF3, ANKRD11 +20 more	Copy number loss	not provided	GPathogenic
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	FANCA, MC1R +45 more	Duplication	Primary ciliary dyskinesia 33 +1 more	GUncertain significance
Select item 1808404	GRCh37/hg19 16q24.2-24.3(chr16:88697181-88809407)x1	CTU2, CYBA +6 more	Copy number loss	not provided	GUncertain significance

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