"GeneDx"[submitter] AND "NPHP1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 59742	GRCh38/hg38 2q13(chr2:109936618-110452159)x1	LIMS3-LOC440895, LIMS4 +13 more	Copy number loss	See cases	GBenign
Select item 144831	GRCh38/hg38 2q13(chr2:109959903-110360538)x3	LIMS3-LOC440895, LIMS4 +12 more	Copy number gain	See cases	GBenign
Select item 152507	GRCh38/hg38 2q13(chr2:110076063-110209066)x3	LOC126806305, LOC126806306 +3 more	Copy number gain	See cases	GBenign
Select item 144830	GRCh38/hg38 2q13(chr2:110076063-110257869)x3	LOC126806305, LOC126806306 +6 more	Copy number gain	See cases	GBenign
Select item 59744	GRCh38/hg38 2q13(chr2:110084138-110611314)x1	LIMS4, LINC01106 +12 more	Copy number loss	See cases	GBenign
Select item 144825	GRCh38/hg38 2q13(chr2:110104900-110209066)x3	LOC126806305, LOC126806306 +2 more	Copy number gain	See cases	GLikely benign
Select item 968322	NM_001128178.3(NPHP1):c.2018G>A (p.Arg673Lys)	NPHP1 (R673K +4 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +4 more	GUncertain significance
Select item 219983	NM_001128178.3(NPHP1):c.1950G>A (p.Leu650=)	NPHP1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 523832	NM_001128178.3(NPHP1):c.1857G>A (p.Trp619Ter)	NPHP1 (W675* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 288529	NM_001128178.3(NPHP1):c.1787C>T (p.Thr596Met)	NPHP1 (T652M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1187312	NM_001128178.3(NPHP1):c.1762-96C>T	NPHP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280130	NM_001128178.3(NPHP1):c.1716+76_1716+77insGTCATCTG	NPHP1	Insertion (intron variant)	not provided	GBenign
Select item 1315299	NM_001128178.3(NPHP1):c.1706A>T (p.Asp569Val)	NPHP1 (D506V +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis +1 more	GUncertain significance
Select item 963737	NM_001128178.3(NPHP1):c.1666G>T (p.Ala556Ser)	NPHP1 (A493S +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1219292	NM_001128178.3(NPHP1):c.1643-46T>C	NPHP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1256770	NM_001128178.3(NPHP1):c.1643-302A>C	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201589	NM_001128178.3(NPHP1):c.1642+197C>T	NPHP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237969	NM_001128178.3(NPHP1):c.1642+148G>A	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1704854	NM_001128178.3(NPHP1):c.1592A>G (p.Gln531Arg)	NPHP1 (Q468R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303342	NM_001128178.3(NPHP1):c.1589G>A (p.Arg530Gln)	NPHP1 (R467Q +4 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 1 +4 more	GUncertain significance
Select item 1230517	NM_001128178.3(NPHP1):c.1529+224C>T	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266326	NM_001128178.3(NPHP1):c.1529+38T>A	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255708	NM_001128178.3(NPHP1):c.1529+19C>T	NPHP1	Single nucleotide variant (intron variant)	Nephronophthisis +2 more	GBenign
Select item 385557	NM_001128178.3(NPHP1):c.1524A>G (p.Val508=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis +4 more	GLikely benign
Select item 972326	NM_001128178.3(NPHP1):c.1523T>G (p.Val508Gly)	NPHP1 (V563G +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis +4 more	GUncertain significance
Select item 330730	NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)	NPHP1 (R546K +4 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 3375616	NM_001128178.3(NPHP1):c.1396G>C (p.Gly466Arg)	NPHP1 (G403R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 255707	NM_001128178.3(NPHP1):c.1353-47T>C	NPHP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1220238	NM_001128178.3(NPHP1):c.1353-58C>T	NPHP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246871	NM_001128178.3(NPHP1):c.1353-95_1353-90del	NPHP1	Deletion (intron variant)	not provided	GBenign
Select item 1272194	NM_001128178.3(NPHP1):c.1353-116C>T	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185728	NM_001128178.3(NPHP1):c.1352+130T>C	NPHP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1328750	NM_001128178.3(NPHP1):c.1346C>T (p.Pro449Leu)	NPHP1 (P386L +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis +1 more	GUncertain significance
Select item 3370183	NM_001128178.3(NPHP1):c.1315A>G (p.Lys439Glu)	NPHP1 (K376E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 194327	NM_001128178.3(NPHP1):c.1270-4C>T	NPHP1	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1218558	NM_001128178.3(NPHP1):c.1269+335T>C	NPHP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251760	NM_001128178.3(NPHP1):c.1269+274G>T	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270233	NM_001128178.3(NPHP1):c.1269+240A>C	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193731	NM_001128178.3(NPHP1):c.1269+170G>A	NPHP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250820	NM_001128178.3(NPHP1):c.1159-61C>T	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249197	NM_001128178.3(NPHP1):c.1159-140A>T	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230392	NM_001128178.3(NPHP1):c.1159-304G>A	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212585	NM_001128178.3(NPHP1):c.1159-347C>T	NPHP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266328	NM_001128178.3(NPHP1):c.1084-208C>A	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262597	NM_001128178.3(NPHP1):c.1083+77T>G	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259358	NM_001128178.3(NPHP1):c.955-208dup	NPHP1	Duplication (intron variant)	not provided	GBenign
Select item 1267323	NM_001128178.3(NPHP1):c.955-237C>G	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282598	NM_001128178.3(NPHP1):c.955-339A>G	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213626	NM_001128178.3(NPHP1):c.954+224_954+227del	NPHP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1225203	NM_001128178.3(NPHP1):c.954+139T>C	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 287345	NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)	NPHP1 (T374I +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis 1 +4 more	GConflicting classifications of pathogenicity
Select item 193568	NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly)	NPHP1 (A370G +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis +4 more	GUncertain significance
Select item 1273669	NM_001128178.3(NPHP1):c.860-34T>A	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255705	NM_001128178.3(NPHP1):c.860-47G>A	NPHP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1254186	NM_001128178.3(NPHP1):c.860-210A>G	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205581	NM_001128178.3(NPHP1):c.860-285A>C	NPHP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 255704	NM_001128178.3(NPHP1):c.859+34A>C	NPHP1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3510	NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)	NPHP1 (G343R +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis +4 more	GPathogenic
Select item 288369	NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)	NPHP1 (M324T +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis +4 more	GConflicting classifications of pathogenicity
Select item 199003	NM_001128178.3(NPHP1):c.772-17G>A	NPHP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1188643	NM_001128178.3(NPHP1):c.772-118C>T	NPHP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220782	NM_001128178.3(NPHP1):c.771+423C>T	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213088	NM_001128178.3(NPHP1):c.771+313C>T	NPHP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239130	NM_001128178.3(NPHP1):c.771+186dup	NPHP1	Duplication (intron variant)	not provided	GBenign
Select item 1202842	NM_001128178.3(NPHP1):c.771+201G>T	NPHP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 198704	NM_001128178.3(NPHP1):c.771+134G>A	NPHP1 (G302E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 330735	NM_001128178.3(NPHP1):c.771+89A>G	NPHP1 (N287S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 198703	NM_001128178.3(NPHP1):c.771+59G>A	NPHP1 (R277Q)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +5 more	GBenign/Likely benign
Select item 129815	NM_001128178.3(NPHP1):c.771+39C>T	NPHP1	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign
Select item 1702836	NM_001128178.3(NPHP1):c.771+19G>A	NPHP1 (V264I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 92720	NM_001128178.3(NPHP1):c.771+2C>T	NPHP1 (A258V)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +5 more	GConflicting classifications of pathogenicity
Select item 235470	NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val)	NPHP1 (A230V +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 1 +6 more	GBenign/Likely benign
Select item 92719	NM_001128178.3(NPHP1):c.654G>A (p.Glu218=)	NPHP1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 198410	NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup)	NPHP1	Microsatellite (inframe_insertion)	Nephronophthisis +6 more	GUncertain significance
Select item 1307141	NM_001128178.3(NPHP1):c.645A>C (p.Glu215Asp)	NPHP1 (E153D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1194783	NM_001128178.3(NPHP1):c.625-82G>C	NPHP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227469	NM_001128178.3(NPHP1):c.625-329C>T	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186764	NM_001128178.3(NPHP1):c.624+48G>A	NPHP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243079	NM_001128178.3(NPHP1):c.624+35dup	NPHP1	Duplication (intron variant)	not provided	GBenign
Select item 1950693	NM_001128178.3(NPHP1):c.604G>T (p.Val202Phe)	NPHP1 (V202F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1211328	NM_001128178.3(NPHP1):c.523-323G>A	NPHP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272264	NM_001128178.3(NPHP1):c.523-328T>C	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1722828	NM_001128178.3(NPHP1):c.488T>A (p.Phe163Tyr)	NPHP1 (F101Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594808	NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser)	NPHP1 (G154S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 595361	NM_001128178.3(NPHP1):c.439G>A (p.Glu147Lys)	NPHP1 (E147K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 197652	NM_001128178.3(NPHP1):c.415GAAGAG[1] (p.Glu141_Glu142del)	NPHP1	Microsatellite (inframe_deletion)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1708895	NM_001128178.3(NPHP1):c.419A>G (p.Glu140Gly)	NPHP1 (E140G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698205	NM_001128178.3(NPHP1):c.374A>T (p.Asp125Val)	NPHP1 (D125V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1190912	NM_001128178.3(NPHP1):c.329+291T>C	NPHP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194482	NM_001128178.3(NPHP1):c.329+139G>T	NPHP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295348	NM_001128178.3(NPHP1):c.329+133T>C	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198713	NM_001128178.3(NPHP1):c.329+88T>G	NPHP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188319	NM_001128178.3(NPHP1):c.329+76C>T	NPHP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 596843	NM_001128178.3(NPHP1):c.308T>C (p.Ile103Thr)	NPHP1 (I103T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 384306	NM_001128178.3(NPHP1):c.267G>A (p.Leu89=)	NPHP1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 167377	NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)	NPHP1 (Y78H)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1218961	NM_001128178.3(NPHP1):c.205-145A>G	NPHP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278720	NM_001128178.3(NPHP1):c.204+100G>A	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign

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