ClinVar for Gene (Select 23163) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3099582	NM_138619.4(GGA3):c.993G>C (p.Glu331Asp)	GGA3 (E259D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099581	NM_138619.4(GGA3):c.952A>G (p.Ser318Gly)	GGA3 (S196G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099580	NM_138619.4(GGA3):c.800G>A (p.Ser267Asn)	GGA3 (S145N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099579	NM_138619.4(GGA3):c.734G>A (p.Arg245Lys)	GGA3 (R212K +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3099578	NM_138619.4(GGA3):c.479C>T (p.Pro160Leu)	GGA3 (P88L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099577	NM_138619.4(GGA3):c.265T>C (p.Phe89Leu)	GGA3 (F17L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099576	NM_138619.4(GGA3):c.263G>A (p.Arg88His)	GGA3 (R88H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099575	NM_138619.4(GGA3):c.256A>G (p.Lys86Glu)	GGA3 (K14E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099574	NM_138619.4(GGA3):c.1880T>C (p.Val627Ala)	GGA3 (V505A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099572	NM_138619.4(GGA3):c.1698T>A (p.Ser566Arg)	GGA3 (S494R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099571	NM_138619.4(GGA3):c.1562A>G (p.Gln521Arg)	GGA3 (Q399R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099570	NM_138619.4(GGA3):c.1525G>C (p.Gly509Arg)	GGA3 (G387R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099569	NM_138619.4(GGA3):c.1472C>T (p.Ala491Val)	GGA3 (A419V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099568	NM_138619.4(GGA3):c.1420G>A (p.Val474Ile)	GGA3 (V352I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099567	NM_138619.4(GGA3):c.11C>T (p.Ala4Val)	GGA3 (A4V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3099566	NM_138619.4(GGA3):c.1159C>G (p.Leu387Val)	GGA3, LOC125316793 (L387V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099565	NM_138619.4(GGA3):c.1123G>C (p.Glu375Gln)	GGA3, LOC125316793 (E253Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063507	GRCh37/hg19 17q25.1(chr17:72875847-73484159)x3	ARMC7, ATP5PD +19 more	Copy number gain	not specified	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 2995840	NM_015971.4(MRPS7):c.83+16G>T	GGA3, MRPS7	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 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 2648250	NM_138619.4(GGA3):c.656A>G (p.Glu219Gly)	GGA3 (E147G +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2606936	NM_138619.4(GGA3):c.1366A>G (p.Ser456Gly)	GGA3 (S334G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601629	NM_138619.4(GGA3):c.409A>G (p.Met137Val)	GGA3 (M137V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595688	NM_138619.4(GGA3):c.2128G>A (p.Glu710Lys)	GGA3 (E638K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2557937	NM_138619.4(GGA3):c.1286T>A (p.Phe429Tyr)	GGA3 (F396Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555061	NM_138619.4(GGA3):c.1285T>G (p.Phe429Val)	GGA3 (F357V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529261	NM_138619.4(GGA3):c.1519G>A (p.Ala507Thr)	GGA3 (A385T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516876	NM_138619.4(GGA3):c.1862G>A (p.Arg621Gln)	GGA3 (R499Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498731	GRCh37/hg19 17q25.1(chr17:72864876-73328878)x1	ARMC7, ATP5PD +19 more	Copy number loss	not provided	GUncertain significance
Select item 2495844	NM_138619.4(GGA3):c.1789C>T (p.Leu597Phe)	GGA3 (L475F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494659	NM_138619.4(GGA3):c.1639G>A (p.Ala547Thr)	GGA3 (A425T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469012	NM_138619.4(GGA3):c.1278C>G (p.Asp426Glu)	GGA3 (D354E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405790	NM_138619.4(GGA3):c.159G>T (p.Lys53Asn)	GGA3 (K53N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2404221	NM_138619.4(GGA3):c.737A>T (p.Glu246Val)	GGA3 (E124V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400893	NM_138619.4(GGA3):c.869T>C (p.Ile290Thr)	GGA3 (I168T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390221	NM_138619.4(GGA3):c.1436C>T (p.Ala479Val)	GGA3 (A357V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2389985	NM_138619.4(GGA3):c.485C>G (p.Pro162Arg)	GGA3 (P162R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383095	NM_138619.4(GGA3):c.1390C>T (p.Pro464Ser)	GGA3 (P392S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356283	NM_138619.4(GGA3):c.1258C>T (p.Leu420Phe)	GGA3 (L348F +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343081	NM_138619.4(GGA3):c.1807G>A (p.Asp603Asn)	GGA3 (D481N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341398	NM_138619.4(GGA3):c.1720C>G (p.Pro574Ala)	GGA3 (P541A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330836	NM_138619.4(GGA3):c.1618C>G (p.Leu540Val)	GGA3 (L468V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321873	NM_138619.4(GGA3):c.1174G>A (p.Glu392Lys)	GGA3, LOC125316793 (E320K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313694	NM_138619.4(GGA3):c.2008A>C (p.Ile670Leu)	GGA3 (I548L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306824	NM_138619.4(GGA3):c.1724A>G (p.Lys575Arg)	GGA3 (K503R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302743	NM_138619.4(GGA3):c.2162G>A (p.Gly721Glu)	GGA3 (G688E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302244	NM_138619.4(GGA3):c.182A>G (p.Glu61Gly)	GGA3 (E61G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
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 2286531	NM_138619.4(GGA3):c.1846G>C (p.Glu616Gln)	GGA3 (E583Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284583	NM_138619.4(GGA3):c.1337T>C (p.Leu446Pro)	GGA3 (L413P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261416	NM_138619.4(GGA3):c.796G>A (p.Ala266Thr)	GGA3 (A233T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257144	NM_138619.4(GGA3):c.356A>T (p.Tyr119Phe)	GGA3 (Y47F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255700	NM_138619.4(GGA3):c.703T>C (p.Tyr235His)	GGA3 (Y202H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234505	NM_138619.4(GGA3):c.2060A>C (p.Lys687Thr)	GGA3 (K615T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229758	NM_138619.4(GGA3):c.1534G>A (p.Ala512Thr)	GGA3 (A390T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2224020	NM_138619.4(GGA3):c.778C>T (p.Arg260Trp)	GGA3 (R188W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2062928	NM_024844.5(NUP85):c.1399C>T (p.Arg467Cys)	NUP85, GGA3 (R467C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044867	NM_024844.5(NUP85):c.1625G>A (p.Arg542His)	GGA3, NUP85 (R496H +2 more)	Single nucleotide variant (missense variant)	not provided	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 1526586	GRCh37/hg19 17q25.1(chr17:73049227-73533226)	ARMC7, CASKIN2 +14 more	Copy number loss	not specified	GUncertain significance
Select item 1377280	NC_000017.10:g.(?_73204602)_(73515148_?)dup	CASKIN2, GGA3 +7 more	Duplication	not provided	GUncertain significance
Select item 1340452	GRCh37/hg19 17q25.1(chr17:73045938-73310951)x3	ARMC7, GGA3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1318189	NM_015971.4(MRPS7):c.83+22dup	GGA3, MRPS7	Duplication (intron variant)	not provided	GLikely benign
Select item 1316110	NM_015971.4(MRPS7):c.83+23C>T	MRPS7, GGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296485	NM_015971.4(MRPS7):c.83+29G>T	GGA3, MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263999	NM_015971.4(MRPS7):c.83+23_83+24del	GGA3, MRPS7	Deletion (intron variant)	Combined oxidative phosphorylation deficiency 34 +1 more	GBenign
Select item 1258115	NM_015971.4(MRPS7):c.83+137G>T	GGA3, MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251728	NM_015971.4(MRPS7):c.83+21_83+22del	GGA3, MRPS7	Deletion (intron variant)	not provided	GBenign
Select item 1231509	NM_015971.4(MRPS7):c.83+23del	GGA3, MRPS7	Deletion (intron variant)	not provided	GBenign
Select item 1227959	NM_015971.3(MRPS7):c.-169G>T	GGA3, MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1030881	NM_024844.5(NUP85):c.1465T>C (p.Trp489Arg)	GGA3, NUP85 (W443R +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 17	GUncertain significance
Select item 815952	GRCh37/hg19 17q25.1(chr17:73218219-73443987)x3	GGA3, GRB2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815951	GRCh37/hg19 17q25.1(chr17:72945415-73414786)x3	ARMC7, ATP5PD +15 more	Copy number gain	not provided	GUncertain significance
Select item 775389	NM_138619.4(GGA3):c.1966T>C (p.Leu656=)	GGA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712747	NM_138619.4(GGA3):c.105G>A (p.Gln35=)	GGA3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 676154	NM_015971.4(MRPS7):c.83+23C>G	GGA3, MRPS7	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency 34 +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 671366	NM_015971.4(MRPS7):c.83+245T>G	GGA3, MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 590318	NM_024844.5(NUP85):c.1741G>C (p.Ala581Pro)	GGA3, NUP85 (A581P +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 17	GLikely pathogenic
Select item 590316	NM_024844.5(NUP85):c.1933C>T (p.Arg645Trp)	GGA3, NUP85 (R645W +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 17	GLikely pathogenic
Select item 590315	NM_024844.5(NUP85):c.1430C>T (p.Ala477Val)	NUP85, GGA3 (A477V +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 17	GUncertain significance
Select item 564472	GRCh37/hg19 17q25.1(chr17:73057756-73429731)x3	ARMC7, GGA3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 564471	GRCh37/hg19 17q25.1(chr17:72962625-73281784)x3	ARMC7, ATP5PD +13 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 511632	NM_015971.4(MRPS7):c.66T>C (p.Ala22=)	GGA3, MRPS7	Single nucleotide variant (synonymous variant +1 more)	MRPS7-related disorder +2 more	GLikely benign
Select item 507137	NM_015971.3(MRPS7):c.-50G>A	GGA3, MRPS7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 493579	GRCh37/hg19 17q25.1(chr17:72901452-73518861)x3	ARMC7, ATP5PD +20 more	Copy number gain	not provided	GUncertain significance
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
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 379995	NM_015971.4(MRPS7):c.5C>T (p.Ala2Val)	GGA3, MRPS7 (A2V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign

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