9969[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 57542	GRCh38/hg38 17q23.1-23.2(chr17:60043448-62148729)x1	APPBP2, APPBP2-DT +61 more	Copy number loss	See cases	GPathogenic
Select item 57455	GRCh38/hg38 17q23.1-23.2(chr17:60095339-62237942)x1	APPBP2, APPBP2-DT +56 more	Copy number loss	See cases	GPathogenic
Select item 146527	GRCh38/hg38 17q23.2(chr17:60255192-62237942)x1	APPBP2, APPBP2-DT +49 more	Copy number loss	See cases	GPathogenic
Select item 151771	GRCh38/hg38 17q23.2-23.3(chr17:61631101-63219455)x1	BRIP1, EFCAB3 +39 more	Copy number loss	See cases	GLikely pathogenic
Select item 1338831	GRCh38/hg38 17q23.2(chr17:61778623-62006540)	BRIP1, INTS2 +5 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 150506	GRCh38/hg38 17q23.2(chr17:61813473-62026326)x1	BRIP1, INTS2 +4 more	Copy number loss	See cases	GUncertain significance
Select item 151513	GRCh38/hg38 17q23.2(chr17:61859764-61943694)x3	BRIP1, INTS2 +3 more	Copy number gain	See cases	GUncertain significance
Select item 3341401	NM_005121.3(MED13):c.6472A>G (p.Ile2158Val)	MED13 (I2158V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 3294001	NM_005121.3(MED13):c.6469C>T (p.Pro2157Ser)	MED13 (P2157S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293997	NM_005121.3(MED13):c.6463T>A (p.Cys2155Ser)	MED13 (C2155S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648004	NM_005121.3(MED13):c.6458G>A (p.Arg2153His)	MED13 (R2153H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2525863	NM_005121.3(MED13):c.6450G>T (p.Gln2150His)	MED13 (Q2150H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1704822	NM_005121.3(MED13):c.6426G>A (p.Trp2142Ter)	MED13 (W2142*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2498716	NM_005121.3(MED13):c.6410A>G (p.Tyr2137Cys)	MED13 (Y2137C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304723	NM_005121.3(MED13):c.6398T>G (p.Val2133Gly)	MED13 (V2133G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 779026	NM_005121.3(MED13):c.6393-8C>G	MED13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2579157	NM_005121.3(MED13):c.6319G>A (p.Val2107Met)	MED13 (V2107M)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 3345503	NM_005121.3(MED13):c.6291G>T (p.Lys2097Asn)	MED13 (K2097N)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance
Select item 2430462	NM_005121.3(MED13):c.6283T>A (p.Phe2095Ile)	MED13 (F2095I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2273329	NM_005121.3(MED13):c.6240G>C (p.Trp2080Cys)	MED13 (W2080C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124921	NM_005121.3(MED13):c.6196G>T (p.Gly2066Cys)	MED13 (G2066C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1197072	NM_005121.3(MED13):c.6178C>G (p.Gln2060Glu)	MED13 (Q2060E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1189232	NM_005121.3(MED13):c.6160dup (p.Glu2054fs)	MED13 (E2054fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1479415	NM_005121.3(MED13):c.6145A>G (p.Thr2049Ala)	MED13 (T2049A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631043	NM_005121.3(MED13):c.6127_6129dup (p.Thr2043_Asp2044insThr)	MED13	Duplication (inframe_insertion)	MED13-related disorder	GUncertain significance
Select item 3252292	NM_005121.3(MED13):c.6121C>G (p.Gln2041Glu)	MED13 (Q2041E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578440	NM_005121.3(MED13):c.6117G>A (p.Lys2039=)	MED13	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2461993	NM_005121.3(MED13):c.6112G>A (p.Gly2038Ser)	MED13 (G2038S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 777207	NM_005121.3(MED13):c.6110C>T (p.Ala2037Val)	MED13 (A2037V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2374700	NM_005121.3(MED13):c.6089A>G (p.His2030Arg)	MED13 (H2030R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675682	NM_005121.3(MED13):c.6063T>G (p.Gly2021=)	MED13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3372499	NM_005121.3(MED13):c.6058A>C (p.Thr2020Pro)	MED13 (T2020P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812099	NM_005121.3(MED13):c.6058A>G (p.Thr2020Ala)	MED13 (T2020A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598777	NM_005121.3(MED13):c.6047C>T (p.Pro2016Leu)	MED13 (P2016L)	Single nucleotide variant (missense variant)	CDK8-kinase module-associated disorder	GLikely pathogenic
Select item 778133	NM_005121.3(MED13):c.6033C>T (p.Ile2011=)	MED13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1312443	NM_005121.3(MED13):c.6032T>C (p.Ile2011Thr)	MED13 (I2011T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985374	NM_005121.3(MED13):c.5969-1G>A	MED13	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GPathogenic
Select item 2230537	NM_005121.3(MED13):c.5966A>G (p.Asn1989Ser)	MED13 (N1989S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768902	NM_005121.3(MED13):c.5928T>C (p.Tyr1976=)	MED13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3340480	NM_005121.3(MED13):c.5879T>C (p.Ile1960Thr)	MED13 (I1960T)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 1303323	NM_005121.3(MED13):c.5870G>A (p.Cys1957Tyr)	MED13 (C1957Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499742	NM_005121.3(MED13):c.5846T>G (p.Leu1949Arg)	MED13 (L1949R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252624	NM_005121.3(MED13):c.5843A>G (p.Gln1948Arg)	MED13 (Q1948R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633277	NM_005121.3(MED13):c.5824C>G (p.Leu1942Val)	MED13 (L1942V)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance
Select item 768903	NM_005121.3(MED13):c.5820G>A (p.Thr1940=)	MED13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3293990	NM_005121.3(MED13):c.5819C>T (p.Thr1940Met)	MED13 (T1940M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221469	NM_005121.3(MED13):c.5816G>C (p.Ser1939Thr)	MED13 (S1939T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221468	NM_005121.3(MED13):c.5815A>C (p.Ser1939Arg)	MED13 (S1939R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222743	NM_005121.3(MED13):c.5813G>C (p.Arg1938Thr)	MED13 (R1938T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539268	NM_005121.3(MED13):c.5794A>G (p.Thr1932Ala)	MED13 (T1932A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1313873	NM_005121.3(MED13):c.5794A>C (p.Thr1932Pro)	MED13 (T1932P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311368	NM_005121.3(MED13):c.5788G>C (p.Val1930Leu)	MED13 (V1930L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 739202	NM_005121.3(MED13):c.5783-8A>G	MED13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3065079	NM_005121.3(MED13):c.5779C>G (p.Pro1927Ala)	MED13 (P1927A)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2232956	NM_005121.3(MED13):c.5772TAT[1] (p.Ile1925del)	MED13 (I1925del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 2573032	NM_005121.3(MED13):c.5774T>C (p.Ile1925Thr)	MED13 (I1925T)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 3341946	NM_005121.3(MED13):c.5757G>T (p.Pro1919=)	MED13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1700231	NM_005121.3(MED13):c.5683_5684del (p.Met1895fs)	MED13 (M1895fs)	Deletion (frameshift variant)	See cases +1 more	GPathogenic/Likely pathogenic
Select item 2635881	NM_005121.3(MED13):c.5645G>A (p.Arg1882His)	MED13 (R1882H)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance
Select item 620178	NM_005121.3(MED13):c.5627G>A (p.Trp1876Ter)	MED13 (W1876*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 735243	NM_005121.3(MED13):c.5623+7T>C	MED13	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 3124919	NM_005121.3(MED13):c.5591G>A (p.Arg1864His)	MED13 (R1864H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242254	NM_005121.3(MED13):c.5541C>A (p.Cys1847Ter)	MED13 (C1847*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder 61	GLikely pathogenic
Select item 2326246	NM_005121.3(MED13):c.5527C>G (p.Leu1843Val)	MED13 (L1843V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502044	NM_005121.3(MED13):c.5497del (p.Ser1833fs)	MED13 (S1833fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3124918	NM_005121.3(MED13):c.5489G>A (p.Arg1830Gln)	MED13 (R1830Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1298713	NM_005121.3(MED13):c.5481-4A>G	MED13	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2237003	NM_005121.3(MED13):c.5474C>T (p.Pro1825Leu)	MED13 (P1825L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2630245	NM_005121.3(MED13):c.5470G>A (p.Val1824Ile)	MED13 (V1824I)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance
Select item 2634082	NM_005121.3(MED13):c.5467G>A (p.Asp1823Asn)	MED13 (D1823N)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance
Select item 3048916	NM_005121.3(MED13):c.5430A>G (p.Leu1810=)	MED13	Single nucleotide variant (synonymous variant)	MED13-related disorder	GLikely benign
Select item 3054179	NM_005121.3(MED13):c.5400A>G (p.Gln1800=)	MED13	Single nucleotide variant (synonymous variant)	MED13-related disorder	GLikely benign
Select item 1698241	NM_005121.3(MED13):c.5366T>G (p.Val1789Gly)	MED13 (V1789G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1333934	NM_005121.3(MED13):c.5339T>C (p.Phe1780Ser)	MED13 (F1780S)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 3234041	NM_005121.3(MED13):c.5321C>G (p.Thr1774Arg)	MED13 (T1774R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 3026998	NM_005121.3(MED13):c.5266T>G (p.Cys1756Gly)	MED13 (C1756G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 710115	NM_005121.3(MED13):c.5259A>G (p.Arg1753=)	MED13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1701859	NM_005121.3(MED13):c.5255A>G (p.Asp1752Gly)	MED13 (D1752G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 975433	NM_005121.3(MED13):c.5248A>G (p.Ser1750Gly)	MED13 (S1750G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 995857	NM_005121.3(MED13):c.5245A>G (p.Arg1749Gly)	MED13 (R1749G)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2429005	NM_005121.3(MED13):c.5240C>T (p.Ala1747Val)	MED13 (A1747V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3344042	NM_005121.3(MED13):c.5231T>C (p.Met1744Thr)	MED13 (M1744T)	Single nucleotide variant (missense variant)	MED13-related disorder	GUncertain significance
Select item 3369651	NM_005121.3(MED13):c.5226A>T (p.Leu1742Phe)	MED13 (L1742F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648005	NM_005121.3(MED13):c.5211C>G (p.Gly1737=)	MED13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2403945	NM_005121.3(MED13):c.5197A>C (p.Lys1733Gln)	MED13 (K1733Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1708092	NM_005121.3(MED13):c.5168G>A (p.Arg1723Gln)	MED13 (R1723Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 3026590	NM_005121.3(MED13):c.5165G>C (p.Cys1722Ser)	MED13 (C1722S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620179	NM_005121.3(MED13):c.5161C>T (p.Gln1721Ter)	MED13 (Q1721*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2231837	NM_005121.3(MED13):c.5150C>T (p.Ser1717Leu)	MED13 (S1717L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 817070	NM_005121.3(MED13):c.5149del (p.Ser1717fs)	MED13 (S1717fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3363512	NM_005121.3(MED13):c.5127G>T (p.Gln1709His)	MED13 (Q1709H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579488	NM_005121.3(MED13):c.5116A>T (p.Ile1706Phe)	MED13 (I1706F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429875	NM_005121.3(MED13):c.5112A>C (p.Arg1704Ser)	MED13 (R1704S)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
Select item 1694855	NM_005121.3(MED13):c.5065A>G (p.Ile1689Val)	MED13 (I1689V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2606431	NM_005121.3(MED13):c.5036C>G (p.Pro1679Arg)	MED13 (P1679R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287183	NM_005121.3(MED13):c.5002C>T (p.Arg1668Ter)	MED13 (R1668*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2648006	NM_005121.3(MED13):c.4998A>G (p.Leu1666=)	MED13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3372242	NM_005121.3(MED13):c.4969A>G (p.Asn1657Asp)	MED13 (N1657D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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