87178[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 58869	GRCh38/hg38 2p16.1(chr2:55426587-56072649)x3	CFAP36, EFEMP1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 147996	GRCh38/hg38 2p16.1(chr2:55570578-60519844)x1	BCL11A, CCDC85A +83 more	Copy number loss	See cases	GPathogenic
Select item 1251542	NM_033109.5(PNPT1):c.*298TAGA[1]	PNPT1	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1246923	NM_033109.5(PNPT1):c.260_261del	PNPT1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1201859	NM_033109.5(PNPT1):c.*159T>A	PNPT1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1261362	NM_033109.5(PNPT1):c.*71T>C	PNPT1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 215003	NM_033109.5(PNPT1):c.*11dup	PNPT1	Duplication (3 prime UTR variant)	Combined oxidative phosphorylation defect type 13 +2 more	GBenign
Select item 3252580	NM_033109.5(PNPT1):c.2351G>T (p.Ter784Leu)	PNPT1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2032181	NM_033109.5(PNPT1):c.2349G>A (p.Gln783=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1476883	NM_033109.5(PNPT1):c.2348del (p.Gln783fs)	PNPT1 (Q783fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1350931	NM_033109.5(PNPT1):c.2345C>G (p.Ser782Cys)	PNPT1 (S782C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1476968	NM_033109.5(PNPT1):c.2336C>T (p.Ser779Leu)	PNPT1 (S779L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387511	NM_033109.5(PNPT1):c.2335T>C (p.Ser779Pro)	PNPT1 (S779P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872434	NM_033109.5(PNPT1):c.2334A>G (p.Ser778=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094816	NM_033109.5(PNPT1):c.2323_2326dup (p.Ser776fs)	PNPT1 (S776fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3369868	NM_033109.5(PNPT1):c.2321C>G (p.Pro774Arg)	PNPT1 (P774R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170183	NM_033109.5(PNPT1):c.2321C>T (p.Pro774Leu)	PNPT1 (P774L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484453	NM_033109.5(PNPT1):c.2303G>T (p.Ser768Ile)	PNPT1 (S768I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844783	NM_033109.5(PNPT1):c.2301T>C (p.Ser767=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1809855	NM_033109.5(PNPT1):c.2298_2300del (p.Arg766del)	PNPT1 (R766del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1409136	NM_033109.5(PNPT1):c.2293G>A (p.Asp765Asn)	PNPT1 (D765N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1989180	NM_033109.5(PNPT1):c.2291A>G (p.Asn764Ser)	PNPT1 (N764S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714480	NM_033109.5(PNPT1):c.2278G>C (p.Val760Leu)	PNPT1 (V760L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969650	NM_033109.5(PNPT1):c.2275G>T (p.Val759Leu)	PNPT1 (V759L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496936	NM_033109.5(PNPT1):c.2275G>A (p.Val759Met)	PNPT1 (V759M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041719	NM_033109.5(PNPT1):c.2274C>A (p.Thr758=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1533562	NM_033109.5(PNPT1):c.2274C>T (p.Thr758=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1995703	NM_033109.5(PNPT1):c.2272A>C (p.Thr758Pro)	PNPT1 (T758P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1528656	NM_033109.5(PNPT1):c.2271A>C (p.Thr757=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1316014	NM_033109.5(PNPT1):c.2261C>T (p.Ser754Leu)	PNPT1 (S754L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663712	NM_033109.5(PNPT1):c.2259G>T (p.Gln753His)	PNPT1 (Q753H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1632120	NM_033109.5(PNPT1):c.2253G>A (p.Val751=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2121462	NM_033109.5(PNPT1):c.2245C>A (p.Arg749=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1695433	NM_033109.5(PNPT1):c.2234T>C (p.Met745Thr)	PNPT1	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356016	NM_033109.5(PNPT1):c.2231G>A (p.Arg744Lys)	PNPT1 (R744K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1432684	NM_033109.5(PNPT1):c.2224G>A (p.Asp742Asn)	PNPT1 (D742N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1398674	NM_033109.5(PNPT1):c.2223C>T (p.Ala741=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 996028	NM_033109.5(PNPT1):c.2213G>A (p.Arg738His)	PNPT1 (R738H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1367904	NM_033109.5(PNPT1):c.2212C>T (p.Arg738Cys)	PNPT1 (R738C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1447058	NM_033109.5(PNPT1):c.2207T>G (p.Phe736Cys)	PNPT1 (F736C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1536458	NM_033109.5(PNPT1):c.2197-17_2197-16del	PNPT1	Deletion (intron variant)	not provided	GLikely benign
Select item 1656202	NM_033109.5(PNPT1):c.2197-18T>G	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199004	NM_033109.5(PNPT1):c.2197-35G>C	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206447	NM_033109.5(PNPT1):c.2197-62A>G	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673767	NM_033109.5(PNPT1):c.2196+284G>A	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1563774	NM_033109.5(PNPT1):c.2196+16C>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2046042	NM_033109.5(PNPT1):c.2196+12C>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1448254	NM_033109.5(PNPT1):c.2196+6T>C	PNPT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1500229	NM_033109.5(PNPT1):c.2188G>A (p.Glu730Lys)	PNPT1 (E730K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908084	NM_033109.5(PNPT1):c.2181T>C (p.Val727=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1569590	NM_033109.5(PNPT1):c.2166C>T (p.Ala722=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2008672	NM_033109.5(PNPT1):c.2150T>C (p.Ile717Thr)	PNPT1 (I717T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418558	NM_033109.5(PNPT1):c.2149-13dup	PNPT1	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2871056	NM_033109.5(PNPT1):c.2149-5T>C	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1620564	NM_033109.5(PNPT1):c.2149-5del	PNPT1	Deletion (intron variant)	not provided	GBenign
Select item 378407	NM_033109.5(PNPT1):c.2149-11T>G	PNPT1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1579226	NM_033109.5(PNPT1):c.2149-14_2149-13del	PNPT1	Deletion (intron variant)	not provided	GLikely benign
Select item 1655399	NM_033109.5(PNPT1):c.2149-14A>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 384772	NM_033109.5(PNPT1):c.2149-18T>A	PNPT1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 381397	NM_033109.5(PNPT1):c.2149-19T>C	PNPT1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1242442	NM_033109.5(PNPT1):c.2149-304C>A	PNPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2035453	NM_033109.5(PNPT1):c.2148+20T>A	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1647834	NM_033109.5(PNPT1):c.2148+20T>C	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1927783	NM_033109.5(PNPT1):c.2148+19T>C	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1486046	NM_033109.5(PNPT1):c.2148+16T>G	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852090	NM_033109.5(PNPT1):c.2148+14T>C	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1937896	NM_033109.5(PNPT1):c.2148+8G>C	PNPT1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 489141	NM_033109.5(PNPT1):c.2148+6A>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1034187	NM_033109.5(PNPT1):c.2147A>G (p.Lys716Arg)	PNPT1 (K716R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1467957	NM_033109.5(PNPT1):c.2144G>A (p.Arg715Gln)	PNPT1 (R715Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 587377	NM_033109.5(PNPT1):c.2137G>T (p.Asp713Tyr)	PNPT1 (D713Y)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 13	GPathogenic
Select item 2844422	NM_033109.5(PNPT1):c.2136T>C (p.Leu712=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802644	NM_033109.5(PNPT1):c.2133A>G (p.Gln711=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826377	NM_033109.5(PNPT1):c.2131C>T (p.Gln711Ter)	PNPT1 (Q711*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2077758	NM_033109.5(PNPT1):c.2129C>T (p.Thr710Ile)	PNPT1 (T710I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1637815	NM_033109.5(PNPT1):c.2112G>A (p.Ala704=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582501	NM_033109.5(PNPT1):c.2106G>C (p.Met702Ile)	PNPT1 (M702I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 70	GUncertain significance
Select item 2446494	NM_033109.5(PNPT1):c.2105T>C (p.Met702Thr)	PNPT1 (M702T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1509530	NM_033109.5(PNPT1):c.2075C>T (p.Thr692Ile)	PNPT1 (T692I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060549	NM_033109.5(PNPT1):c.2072A>C (p.Asp691Ala)	PNPT1 (D691A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2006512	NM_033109.5(PNPT1):c.2070-5T>G	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138741	NM_033109.5(PNPT1):c.2070-5T>C	PNPT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2077492	NM_033109.5(PNPT1):c.2070-12del	PNPT1	Deletion (intron variant)	not provided	GLikely benign
Select item 2879213	NM_033109.5(PNPT1):c.2070-15T>C	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 381282	NM_033109.5(PNPT1):c.2070-16A>C	PNPT1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1652291	NM_033109.5(PNPT1):c.2070-20_2070-17del	PNPT1	Deletion (intron variant)	not provided	GLikely benign
Select item 1249508	NM_033109.5(PNPT1):c.2070-98T>C	PNPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1924850	NM_033109.5(PNPT1):c.2069+19C>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1695428	NM_033109.5(PNPT1):c.2069+3A>G	PNPT1	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 25	GPathogenic
Select item 2582577	NM_033109.5(PNPT1):c.2067C>T (p.Ile689=)	PNPT1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 70	GUncertain significance
Select item 2108896	NM_033109.5(PNPT1):c.2064A>T (p.Glu688Asp)	PNPT1 (E688D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 668368	NM_033109.5(PNPT1):c.2058A>C (p.Ile686=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966863	NM_033109.5(PNPT1):c.2049C>T (p.Thr683=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2531761	NM_033109.5(PNPT1):c.2048C>T (p.Thr683Ile)	PNPT1 (T683I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 797844	NM_033109.5(PNPT1):c.2043A>G (p.Val681=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1015538	NM_033109.5(PNPT1):c.2039C>T (p.Ala680Val)	PNPT1 (A680V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113226	NM_033109.5(PNPT1):c.2014C>T (p.Gln672Ter)	PNPT1 (Q672*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3000760	NM_033109.5(PNPT1):c.2014-2A>G	PNPT1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic

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