51081[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 1227959	NM_015971.3(MRPS7):c.-169G>T	GGA3, MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 507137	NM_015971.3(MRPS7):c.-50G>A	GGA3, MRPS7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 379995	NM_015971.4(MRPS7):c.5C>T (p.Ala2Val)	GGA3, MRPS7 (A2V)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 34 +2 more	GBenign
Select item 3209718	NM_015971.4(MRPS7):c.11C>G (p.Pro4Arg)	GGA3, MRPS7 (P4R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1911358	NM_015971.4(MRPS7):c.21G>C (p.Lys7Asn)	GGA3, MRPS7 (K7N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3013826	NM_015971.4(MRPS7):c.25G>A (p.Ala9Thr)	GGA3, MRPS7 (A9T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 390699	NM_015971.4(MRPS7):c.27C>T (p.Ala9=)	GGA3, MRPS7	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 380587	NM_015971.4(MRPS7):c.47C>T (p.Ala16Val)	GGA3, MRPS7 (A16V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2887868	NM_015971.4(MRPS7):c.62G>A (p.Arg21Gln)	GGA3, MRPS7 (R21Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 511632	NM_015971.4(MRPS7):c.66T>C (p.Ala22=)	GGA3, MRPS7	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2299136	NM_015971.4(MRPS7):c.80C>T (p.Pro27Leu)	GGA3, MRPS7 (P27L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2995840	NM_015971.4(MRPS7):c.83+16G>T	MRPS7, GGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994666	NM_015971.4(MRPS7):c.83+23_83+25del	GGA3, MRPS7	Microsatellite (intron variant)	not provided	GBenign
Select item 1318189	NM_015971.4(MRPS7):c.83+22dup	GGA3, MRPS7	Duplication (intron variant)	not provided	GLikely benign
Select item 1251728	NM_015971.4(MRPS7):c.83+21_83+22del	GGA3, MRPS7	Deletion (intron variant)	not provided	GBenign
Select item 1263999	NM_015971.4(MRPS7):c.83+23_83+24del	GGA3, MRPS7	Deletion (intron variant)	not provided +1 more	GBenign
Select item 676153	NM_015971.4(MRPS7):c.83+22G>C	GGA3, MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316110	NM_015971.4(MRPS7):c.83+23C>T	GGA3, MRPS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231509	NM_015971.4(MRPS7):c.83+23del	MRPS7, GGA3	Deletion (intron variant)	not provided	GBenign
Select item 676154	NM_015971.4(MRPS7):c.83+23C>G	MRPS7, GGA3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1296485	NM_015971.4(MRPS7):c.83+29G>T	GGA3, MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258115	NM_015971.4(MRPS7):c.83+137G>T	GGA3, MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671366	NM_015971.4(MRPS7):c.83+245T>G	GGA3, MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275632	NM_015971.4(MRPS7):c.84-99C>T	MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678338	NM_015971.4(MRPS7):c.84-80C>T	MRPS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677495	NM_015971.4(MRPS7):c.84-74T>C	MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 422926	NM_015971.4(MRPS7):c.84-7dup	MRPS7	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 388894	NM_015971.4(MRPS7):c.84-14T>C	MRPS7	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1318954	NM_015971.4(MRPS7):c.84-8C>A	MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 386929	NM_015971.4(MRPS7):c.84-8C>T	MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 382414	NM_015971.4(MRPS7):c.84-8C>G	MRPS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955881	NM_015971.4(MRPS7):c.84-7C>A	MRPS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996660	NM_015971.4(MRPS7):c.95T>G (p.Val32Gly)	MRPS7 (V32G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392386	NM_015971.4(MRPS7):c.117T>C (p.Pro39=)	MRPS7	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1539518	NM_015971.4(MRPS7):c.123C>T (p.Phe41=)	MRPS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2492443	NM_015971.4(MRPS7):c.144G>C (p.Lys48Asn)	MRPS7 (K48N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2895082	NM_015971.4(MRPS7):c.189A>G (p.Lys63=)	MRPS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049945	NM_015971.4(MRPS7):c.199G>C (p.Glu67Gln)	MRPS7 (E67Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1952438	NM_015971.4(MRPS7):c.224A>T (p.Lys75Ile)	MRPS7 (K75I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2260618	NM_015971.4(MRPS7):c.251C>T (p.Ser84Phe)	MRPS7 (S84F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2071544	NM_015971.4(MRPS7):c.268G>A (p.Val90Ile)	MRPS7 (V90I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791098	NM_015971.4(MRPS7):c.275+20_275+21del	MRPS7	Deletion (intron variant)	not provided	GLikely benign
Select item 1935433	NM_015971.4(MRPS7):c.294G>A (p.Met98Ile)	MRPS7 (M98I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2535618	NM_015971.4(MRPS7):c.334A>G (p.Ile112Val)	MRPS7 (I112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1621256	NM_015971.4(MRPS7):c.339+12T>C	MRPS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990932	NM_015971.4(MRPS7):c.339+16del	MRPS7	Deletion (intron variant)	not provided	GLikely benign
Select item 2960661	NM_015971.4(MRPS7):c.339+16C>T	MRPS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275692	NM_015971.4(MRPS7):c.339+135C>T	MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671368	NM_015971.4(MRPS7):c.339+153T>C	MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287778	NM_015971.4(MRPS7):c.339+214dup	MRPS7	Duplication (intron variant)	not provided	GBenign
Select item 2278508	NM_015971.4(MRPS7):c.341C>T (p.Thr114Ile)	MRPS7 (T114I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1706435	NM_015971.4(MRPS7):c.373A>T (p.Lys125Ter)	MRPS7 (K125*)	Single nucleotide variant (nonsense)	Sensorineural hearing loss disorder +1 more	GLikely pathogenic
Select item 1899818	NM_015971.4(MRPS7):c.385G>A (p.Ala129Thr)	MRPS7 (A129T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3209735	NM_015971.4(MRPS7):c.404C>A (p.Ala135Glu)	MRPS7 (A135E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2904312	NM_015971.4(MRPS7):c.412G>A (p.Glu138Lys)	MRPS7 (E138K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180201	NM_015971.4(MRPS7):c.428C>G (p.Thr143Ser)	MRPS7 (T143S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3048339	NM_015971.4(MRPS7):c.438T>C (p.His146=)	MRPS7	Single nucleotide variant (synonymous variant)	MRPS7-related disorder	GLikely benign
Select item 3296132	NM_015971.4(MRPS7):c.457G>A (p.Glu153Lys)	MRPS7 (E153K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 515639	NM_015971.4(MRPS7):c.507+18G>T	MRPS7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1316754	NM_015971.4(MRPS7):c.507+248T>C	MRPS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317575	NM_015971.4(MRPS7):c.508-146C>T	MRPS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 382643	NM_015971.4(MRPS7):c.508-10T>C	MRPS7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2143113	NM_015971.4(MRPS7):c.508-6A>G	MRPS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 382075	NM_015971.4(MRPS7):c.508-4C>T	MRPS7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1029419	NM_015971.4(MRPS7):c.508-1G>A	MRPS7	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation deficiency 34	GUncertain significance
Select item 3051064	NM_015971.4(MRPS7):c.513T>C (p.Pro171=)	MRPS7	Single nucleotide variant (synonymous variant)	MRPS7-related disorder	GLikely benign
Select item 1642977	NM_015971.4(MRPS7):c.522A>C (p.Leu174=)	MRPS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3209737	NM_015971.4(MRPS7):c.523C>G (p.Pro175Ala)	MRPS7 (P175A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1354344	NM_015971.4(MRPS7):c.526G>T (p.Asp176Tyr)	MRPS7 (D176Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3296134	NM_015971.4(MRPS7):c.530G>A (p.Arg177Gln)	MRPS7 (R177Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2059765	NM_015971.4(MRPS7):c.533G>A (p.Arg178His)	MRPS7 (R178H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1349478	NM_015971.4(MRPS7):c.536G>A (p.Arg179His)	MRPS7 (R179H)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +3 more	GConflicting classifications of pathogenicity
Select item 3296133	NM_015971.4(MRPS7):c.538C>G (p.Arg180Gly)	MRPS7 (R180G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209741	NM_015971.4(MRPS7):c.538C>T (p.Arg180Cys)	MRPS7 (R180C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1922690	NM_015971.4(MRPS7):c.539G>A (p.Arg180His)	MRPS7 (R180H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 489402	NM_015971.4(MRPS7):c.550A>G (p.Met184Val)	MRPS7 (M184V)	Single nucleotide variant (missense variant)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 2374886	NM_015971.4(MRPS7):c.574C>T (p.Arg192Trp)	MRPS7 (R192W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2184680	NM_015971.4(MRPS7):c.575G>A (p.Arg192Gln)	MRPS7 (R192Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1317391	NM_015971.4(MRPS7):c.576G>T (p.Arg192=)	MRPS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978872	NM_015971.4(MRPS7):c.582A>G (p.Lys194=)	MRPS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1252103	NM_015971.4(MRPS7):c.593G>A (p.Arg198Gln)	MRPS7 (R198Q)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2106819	NM_015971.4(MRPS7):c.597A>G (p.Thr199=)	MRPS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2714153	NM_015971.4(MRPS7):c.605C>T (p.Pro202Leu)	MRPS7 (P202L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380071	NM_015971.4(MRPS7):c.624G>A (p.Lys208=)	MRPS7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 382372	NM_015971.4(MRPS7):c.645C>T (p.Asn215=)	MRPS7	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3209752	NM_015971.4(MRPS7):c.652C>T (p.Pro218Ser)	MRPS7 (P218S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 512314	NM_015971.4(MRPS7):c.654C>G (p.Pro218=)	MRPS7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2515772	NM_015971.4(MRPS7):c.655G>A (p.Val219Met)	MRPS7 (V219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3000847	NM_015971.4(MRPS7):c.686T>C (p.Met229Thr)	MRPS7 (M229T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315693	NM_015971.4(MRPS7):c.688G>A (p.Ala230Thr)	MRPS7 (A230T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2648251	NM_015971.4(MRPS7):c.699C>T (p.Asn233=)	MRPS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2726975	NM_015971.4(MRPS7):c.701G>A (p.Arg234His)	MRPS7 (R234H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892285	NM_015971.4(MRPS7):c.704C>T (p.Ala235Val)	MRPS7 (A235V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317527	NM_015971.4(MRPS7):c.*266T>C	MRPS7	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1260559	NM_015971.4(MRPS7):c.*289T>C	MRPS7	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3063507	GRCh37/hg19 17q25.1(chr17:72875847-73484159)x3	ARMC7, ATP5PD +19 more	Copy number gain	not specified	GUncertain significance
Select item 2684855	GRCh37/hg19 17q25.1(chr17:73259444-73533226)x3	CASKIN2, GRB2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic

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