"GeneDx"[submitter] AND "PNPT1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3369868	NM_033109.5(PNPT1):c.2321C>G (p.Pro774Arg)	PNPT1 (P774R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809855	NM_033109.5(PNPT1):c.2298_2300del (p.Arg766del)	PNPT1 (R766del)	Deletion (inframe_deletion)	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 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 1432684	NM_033109.5(PNPT1):c.2224G>A (p.Asp742Asn)	PNPT1 (D742N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996028	NM_033109.5(PNPT1):c.2213G>A (p.Arg738His)	PNPT1 (R738H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 70 +2 more	GConflicting classifications of pathogenicity
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 418558	NM_033109.5(PNPT1):c.2149-13dup	PNPT1	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
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 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 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 2446494	NM_033109.5(PNPT1):c.2105T>C (p.Met702Thr)	PNPT1 (M702T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138741	NM_033109.5(PNPT1):c.2070-5T>C	PNPT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1249508	NM_033109.5(PNPT1):c.2070-98T>C	PNPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668368	NM_033109.5(PNPT1):c.2058A>C (p.Ile686=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1499515	NM_033109.5(PNPT1):c.1982G>A (p.Arg661Lys)	PNPT1 (R661K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3338713	NM_033109.5(PNPT1):c.1963A>G (p.Ser655Gly)	PNPT1 (S655G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 215011	NM_033109.5(PNPT1):c.1960C>T (p.Pro654Ser)	PNPT1 (P654S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138740	NM_033109.5(PNPT1):c.1938G>A (p.Thr646=)	PNPT1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 390259	NM_033109.5(PNPT1):c.1929T>C (p.Asp643=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1315706	NM_033109.5(PNPT1):c.1913C>T (p.Thr638Ile)	PNPT1 (T638I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1386876	NM_033109.5(PNPT1):c.1907G>A (p.Gly636Asp)	PNPT1 (G636D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 680918	NM_033109.5(PNPT1):c.1907-17C>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266033	NM_033109.5(PNPT1):c.1907-137A>G	PNPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683578	NM_033109.5(PNPT1):c.1907-267T>C	PNPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225151	NM_033109.5(PNPT1):c.1907-314del	PNPT1	Deletion (intron variant)	not provided	GBenign
Select item 421605	NM_033109.5(PNPT1):c.1906+10delinsCAT	PNPT1	Indel (intron variant)	not specified	GLikely benign
Select item 2502754	NM_033109.5(PNPT1):c.1846A>G (p.Lys616Glu)	PNPT1 (K616E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1448220	NM_033109.5(PNPT1):c.1834G>T (p.Val612Phe)	PNPT1 (V612F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1263324	NM_033109.5(PNPT1):c.1823-221C>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179807	NM_033109.5(PNPT1):c.1823-226C>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671594	NM_033109.5(PNPT1):c.1822+225A>G	PNPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1338885	NM_033109.5(PNPT1):c.1795T>A (p.Ser599Thr)	PNPT1 (S599T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 444496	NM_033109.5(PNPT1):c.1771A>C (p.Lys591Gln)	PNPT1 (K591Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 138739	NM_033109.5(PNPT1):c.1768A>G (p.Asn590Asp)	PNPT1 (N590D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1500231	NM_033109.5(PNPT1):c.1758A>C (p.Leu586Phe)	PNPT1 (L586F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 675931	NM_033109.5(PNPT1):c.1756T>C (p.Leu586=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 676182	NM_033109.5(PNPT1):c.1739-150A>G	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669543	NM_033109.5(PNPT1):c.1738+271G>A	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667459	NM_033109.5(PNPT1):c.1738+179C>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671593	NM_033109.5(PNPT1):c.1738+93A>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671739	NM_033109.5(PNPT1):c.1738+37C>G	PNPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 138738	NM_033109.5(PNPT1):c.1738+9G>C	PNPT1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1216666	NM_033109.5(PNPT1):c.1725T>C (p.Ile575=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2577597	NM_033109.5(PNPT1):c.1717G>C (p.Glu573Gln)	PNPT1 (E573Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1031031	NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly)	PNPT1 (A559G)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 13 +2 more	GUncertain significance
Select item 215002	NM_033109.5(PNPT1):c.1674+20del	PNPT1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 215001	NM_033109.5(PNPT1):c.1632C>T (p.Asp544=)	PNPT1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 972897	NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser)	PNPT1 (N540S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 13 +2 more	GConflicting classifications of pathogenicity
Select item 1250010	NM_033109.5(PNPT1):c.1603-291_1603-288del	PNPT1	Deletion (intron variant)	not provided	GBenign
Select item 1255351	NM_033109.5(PNPT1):c.1602+189T>A	PNPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211004	NM_033109.5(PNPT1):c.1602+150A>G	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 209184	NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg)	PNPT1 (T531R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1188471	NM_033109.5(PNPT1):c.1583G>A (p.Arg528His)	PNPT1 (R528H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1193887	NM_033109.5(PNPT1):c.1566T>A (p.Gly522=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 215015	NM_033109.5(PNPT1):c.1563G>A (p.Lys521=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 209185	NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)	PNPT1 (V509I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3252514	NM_033109.5(PNPT1):c.1520C>G (p.Ala507Gly)	PNPT1 (A507G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 215010	NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)	PNPT1 (A507S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +5 more	GConflicting classifications of pathogenicity
Select item 389795	NM_033109.5(PNPT1):c.1496-10C>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683569	NM_033109.5(PNPT1):c.1496-223G>A	PNPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671592	NM_033109.5(PNPT1):c.1495+219G>A	PNPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221375	NM_033109.5(PNPT1):c.1495+55_1495+80del	PNPT1	Deletion (intron variant)	not provided	GBenign
Select item 676597	NM_033109.5(PNPT1):c.1495+12A>G	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1331289	NM_033109.5(PNPT1):c.1471G>A (p.Gly491Arg)	PNPT1 (G491R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1218282	NM_033109.5(PNPT1):c.1470C>T (p.Gly490=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 215009	NM_033109.5(PNPT1):c.1453A>G (p.Met485Val)	PNPT1 (M485V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 513285	NM_033109.5(PNPT1):c.1442-4A>G	PNPT1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1199451	NM_033109.5(PNPT1):c.1442-44A>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674130	NM_033109.5(PNPT1):c.1442-159T>A	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3375569	NM_033109.5(PNPT1):c.1408A>T (p.Ile470Leu)	PNPT1 (I470L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138737	NM_033109.5(PNPT1):c.1390C>A (p.Arg464=)	PNPT1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1195522	NM_033109.5(PNPT1):c.1382T>C (p.Val461Ala)	PNPT1 (V461A)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 682394	NM_033109.5(PNPT1):c.1374G>A (p.Leu458=)	PNPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 548987	NM_033109.5(PNPT1):c.1361C>G (p.Ala454Gly)	PNPT1 (A454G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1411827	NM_033109.5(PNPT1):c.1357C>T (p.Leu453Phe)	PNPT1 (L453F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1193151	NM_033109.5(PNPT1):c.1285-59A>G	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671591	NM_033109.5(PNPT1):c.1285-207G>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671590	NM_033109.5(PNPT1):c.1285-227G>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291420	NM_033109.5(PNPT1):c.1284+421C>T	PNPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201921	NM_033109.5(PNPT1):c.1284+217T>C	PNPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671589	NM_033109.5(PNPT1):c.1284+131del	PNPT1	Deletion (intron variant)	not provided	GLikely benign
Select item 1268376	NM_033109.5(PNPT1):c.1284+116A>G	PNPT1	Single nucleotide variant (intron variant)	not provided	GBenign

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