8720[geneid] - 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	MIR138-2, MIR140 +1738 more	Copy number gain	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 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 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	ADAD2, ATP2C2 +211 more	Copy number loss	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 59519	GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1	ADAD2, ATP2C2 +106 more	Copy number loss	See cases	GPathogenic
Select item 144447	GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1	ADAD2, ATP2C2 +93 more	Copy number loss	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 147286	GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1	ADAD2, CIBAR2 +203 more	Copy number loss	See cases	GPathogenic
Select item 152236	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84276472)x3	ADAD2, CDH13 +36 more	Copy number gain	See cases	GUncertain significance
Select item 150582	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84558035)x1	ADAD2, ATP2C2 +55 more	Copy number loss	See cases	GUncertain significance
Select item 60064	GRCh38/hg38 16q23.3(chr16:83796168-84063463)x3	CDH13, CDH13-AS2 +17 more	Copy number gain	See cases	GUncertain significance
Select item 146470	GRCh38/hg38 16q23.3-24.1(chr16:83878992-84908120)x3	ADAD2, KCNG4 +80 more	Copy number gain	See cases	GUncertain significance
Select item 57422	GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1	LOC130059603, LOC130059604 +227 more	Copy number loss	See cases	GPathogenic
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 3060449	NM_003791.4(MBTPS1):c.*7G>A	MBTPS1	Single nucleotide variant (3 prime UTR variant)	MBTPS1-related disorder	GBenign
Select item 1334154	NM_003791.4(MBTPS1):c.3157T>C (p.Ter1053Arg)	MBTPS1	Single nucleotide variant (stop lost)	Spondyloepiphyseal dysplasia, kondo-fu type	GPathogenic
Select item 2209249	NM_003791.4(MBTPS1):c.3152C>T (p.Ser1051Leu)	MBTPS1 (S1051L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124142	NM_003791.4(MBTPS1):c.3149C>A (p.Pro1050His)	MBTPS1 (P1050H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2074689	NM_003791.4(MBTPS1):c.3137C>T (p.Pro1046Leu)	MBTPS1 (P1046L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978694	NM_003791.4(MBTPS1):c.3127C>G (p.Gln1043Glu)	MBTPS1 (Q1043E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984403	NM_003791.4(MBTPS1):c.3114G>A (p.Pro1038=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2098661	NM_003791.4(MBTPS1):c.3102G>C (p.Arg1034Ser)	MBTPS1 (R1034S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018275	NM_003791.4(MBTPS1):c.3084G>A (p.Pro1028=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2042072	NM_003791.4(MBTPS1):c.3083C>T (p.Pro1028Leu)	MBTPS1 (P1028L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2108917	NM_003791.4(MBTPS1):c.3049T>C (p.Phe1017Leu)	MBTPS1 (F1017L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888092	NM_003791.4(MBTPS1):c.3018C>T (p.Ala1006=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2373642	NM_003791.4(MBTPS1):c.2978G>A (p.Arg993His)	MBTPS1 (R993H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1975066	NM_003791.4(MBTPS1):c.2977C>T (p.Arg993Cys)	MBTPS1 (R993C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1629994	NM_003791.4(MBTPS1):c.2963-12G>A	MBTPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1600366	NM_003791.4(MBTPS1):c.2963-17C>T	MBTPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1609182	NM_003791.4(MBTPS1):c.2963-18C>G	MBTPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1913115	NM_003791.4(MBTPS1):c.2963-19A>G	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897697	NM_003791.4(MBTPS1):c.2962+11G>A	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907669	NM_003791.4(MBTPS1):c.2962+10C>T	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1991409	NM_003791.4(MBTPS1):c.2962+8C>A	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096591	NM_003791.4(MBTPS1):c.2962+4A>T	MBTPS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1328912	NM_003791.4(MBTPS1):c.2959G>A (p.Gly987Arg)	MBTPS1 (G987R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 715864	NM_003791.4(MBTPS1):c.2950G>A (p.Asp984Asn)	MBTPS1 (D984N)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 812671	NM_003791.4(MBTPS1):c.2948G>A (p.Trp983Ter)	MBTPS1 (W983*)	Single nucleotide variant (nonsense)	Spondyloepiphyseal dysplasia, kondo-fu type +1 more	GPathogenic
Select item 2226102	NM_003791.4(MBTPS1):c.2944G>A (p.Ala982Thr)	MBTPS1 (A982T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1641346	NM_003791.4(MBTPS1):c.2941G>A (p.Gly981Ser)	MBTPS1 (G981S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3022242	NM_003791.4(MBTPS1):c.2940C>T (p.Ser980=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067824	NM_003791.4(MBTPS1):c.2927C>T (p.Ser976Phe)	MBTPS1 (S976F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3293576	NM_003791.4(MBTPS1):c.2906G>A (p.Arg969His)	MBTPS1 (R969H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2181306	NM_003791.4(MBTPS1):c.2901G>A (p.Ser967=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065874	NM_003791.4(MBTPS1):c.2896C>T (p.Arg966Ter)	MBTPS1 (R966*)	Single nucleotide variant (nonsense)	Spondyloepiphyseal dysplasia, kondo-fu type	GLikely pathogenic
Select item 1910539	NM_003791.4(MBTPS1):c.2874C>G (p.Asp958Glu)	MBTPS1 (D958E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046584	NM_003791.4(MBTPS1):c.2861C>G (p.Ser954Cys)	MBTPS1 (S954C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3001978	NM_003791.4(MBTPS1):c.2856A>G (p.Leu952=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047668	NM_003791.4(MBTPS1):c.2832-5T>C	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989678	NM_003791.4(MBTPS1):c.2831+17G>A	MBTPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2954994	NM_003791.4(MBTPS1):c.2831+15G>A	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967557	NM_003791.4(MBTPS1):c.2831+12C>T	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551674	NM_003791.4(MBTPS1):c.2831+11G>A	MBTPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2582788	NM_003791.4(MBTPS1):c.2831+5G>T	MBTPS1	Single nucleotide variant (intron variant)	Spondyloepiphyseal dysplasia, kondo-fu type	GUncertain significance
Select item 2088086	NM_003791.4(MBTPS1):c.2827C>G (p.Pro943Ala)	MBTPS1 (P943A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940604	NM_003791.4(MBTPS1):c.2826G>T (p.Ala942=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1558899	NM_003791.4(MBTPS1):c.2826G>A (p.Ala942=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2192643	NM_003791.4(MBTPS1):c.2823G>A (p.Thr941=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914875	NM_003791.4(MBTPS1):c.2822C>T (p.Thr941Met)	MBTPS1 (T941M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3293577	NM_003791.4(MBTPS1):c.2820G>C (p.Glu940Asp)	MBTPS1 (E940D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3022929	NM_003791.4(MBTPS1):c.2817C>T (p.Asn939=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2215792	NM_003791.4(MBTPS1):c.2803C>A (p.Pro935Thr)	MBTPS1 (P935T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2869512	NM_003791.4(MBTPS1):c.2799C>G (p.Ala933=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600003	NM_003791.4(MBTPS1):c.2787C>T (p.Arg929=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3124140	NM_003791.4(MBTPS1):c.2786G>A (p.Arg929His)	MBTPS1 (R929H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2315116	NM_003791.4(MBTPS1):c.2785C>T (p.Arg929Cys)	MBTPS1 (R929C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2160035	NM_003791.4(MBTPS1):c.2757A>G (p.Pro919=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2542525	NM_003791.4(MBTPS1):c.2731G>A (p.Val911Ile)	MBTPS1 (V911I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124139	NM_003791.4(MBTPS1):c.2728A>G (p.Lys910Glu)	MBTPS1 (K910E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124137	NM_003791.4(MBTPS1):c.2709C>G (p.Asn903Lys)	MBTPS1 (N903K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710100	NM_003791.4(MBTPS1):c.2705-9T>A	MBTPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2186870	NM_003791.4(MBTPS1):c.2698A>G (p.Met900Val)	MBTPS1 (M900V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2695143	NM_003791.4(MBTPS1):c.2685C>G (p.Val895=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1642907	NM_003791.4(MBTPS1):c.2681C>T (p.Ser894Leu)	MBTPS1 (S894L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2877271	NM_003791.4(MBTPS1):c.2675C>T (p.Ala892Val)	MBTPS1 (A892V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298670	NM_003791.4(MBTPS1):c.2628G>A (p.Pro876=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081783	NM_003791.4(MBTPS1):c.2613G>A (p.Ser871=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189967	NM_003791.4(MBTPS1):c.2610A>G (p.Thr870=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053909	NM_003791.4(MBTPS1):c.2601C>A (p.Leu867=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961911	NM_003791.4(MBTPS1):c.2599C>G (p.Leu867Val)	MBTPS1 (L867V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2008964	NM_003791.4(MBTPS1):c.2598C>T (p.Leu866=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902886	NM_003791.4(MBTPS1):c.2595C>T (p.Ala865=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052223	NM_003791.4(MBTPS1):c.2574C>G (p.Asp858Glu)	MBTPS1 (D858E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2897283	NM_003791.4(MBTPS1):c.2573-4G>A	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770780	NM_003791.4(MBTPS1):c.2573-4G>T	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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