"Fulgent Genetics, Fulgent Genetics"[submitter] AND "NPHP3-AS1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 390921	NM_153240.5(NPHP3):c.393+18C>T	NPHP3, NPHP3-ACAD11 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia 1 +4 more	GLikely benign
Select item 1046540	NM_153240.5(NPHP3):c.346G>A (p.Glu116Lys)	NPHP3, NPHP3-ACAD11 +1 more (E116K)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +3 more	GUncertain significance
Select item 343392	NM_153240.5(NPHP3):c.332C>T (p.Ser111Phe)	NPHP3, NPHP3-ACAD11 +1 more (S111F)	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia 1 +3 more	GUncertain significance
Select item 597212	NM_153240.5(NPHP3):c.323A>C (p.Glu108Ala)	NPHP3, NPHP3-ACAD11 +1 more (E108A)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +5 more	GUncertain significance
Select item 1624803	NM_153240.5(NPHP3):c.237G>A (p.Ser79=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GLikely benign
Select item 291105	NM_153240.5(NPHP3):c.233G>T (p.Gly78Val)	LOC129937586, NPHP3 +2 more (G78V)	Single nucleotide variant (non-coding transcript variant +1 more)	Meckel-Gruber syndrome +6 more	GUncertain significance
Select item 1421374	NM_153240.5(NPHP3):c.224A>G (p.Lys75Arg)	LOC129937586, NPHP3 +2 more (K75R)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1034512	NM_153240.5(NPHP3):c.209T>C (p.Leu70Pro)	LOC129937586, NPHP3 +2 more (L70P)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +4 more	GUncertain significance
Select item 949984	NM_153240.5(NPHP3):c.188G>A (p.Gly63Glu)	LOC129937586, NPHP3 +2 more (G63E)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +4 more	GUncertain significance
Select item 1398189	NM_153240.5(NPHP3):c.185G>A (p.Arg62His)	LOC129937586, NPHP3 +2 more (R62H)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 432989	NM_153240.5(NPHP3):c.169_174dup (p.Pro57_Gly58dup)	NPHP3-ACAD11, NPHP3-AS1 +2 more	Duplication (non-coding transcript variant +1 more)	not provided +4 more	GUncertain significance
Select item 1057389	NM_153240.5(NPHP3):c.161G>A (p.Gly54Glu)	LOC129937586, NPHP3 +2 more (G54E)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 502325	NM_153240.5(NPHP3):c.155CAG[1] (p.Ala53del)	LOC129937586, NPHP3 +2 more (A53del)	Microsatellite (non-coding transcript variant +1 more)	Nephronophthisis +4 more	GUncertain significance
Select item 594322	NM_153240.5(NPHP3):c.158C>G (p.Ala53Gly)	LOC129937586, NPHP3 +2 more (A53G)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +4 more	GUncertain significance
Select item 1500050	NM_153240.5(NPHP3):c.155C>T (p.Ala52Val)	NPHP3-ACAD11, NPHP3-AS1 +2 more (A52V)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 858100	NM_153240.5(NPHP3):c.146C>T (p.Ala49Val)	LOC129937586, NPHP3 +2 more (A49V)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 700840	NM_153240.5(NPHP3):c.141A>T (p.Arg47=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia 1 +3 more	GLikely benign
Select item 999142	NM_153240.5(NPHP3):c.116G>T (p.Arg39Leu)	NPHP3-ACAD11, NPHP3-AS1 +2 more (R39L)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related disorder +4 more	GUncertain significance
Select item 497620	NM_153240.5(NPHP3):c.87G>T (p.Glu29Asp)	NPHP3, NPHP3-ACAD11 +2 more (E29D)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +5 more	GUncertain significance
Select item 1386222	NM_153240.5(NPHP3):c.76G>A (p.Glu26Lys)	LOC129937586, NPHP3 +2 more (E26K)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +3 more	GUncertain significance
Select item 500896	NM_153240.5(NPHP3):c.65C>T (p.Ala22Val)	NPHP3-AS1, LOC129937586 +2 more (A22V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +5 more	GUncertain significance
Select item 1408555	NM_153240.5(NPHP3):c.1dup (p.Met1fs)	NPHP3, NPHP3-ACAD11 +1 more (M1fs)	Duplication (non-coding transcript variant +2 more)	Nephronophthisis +3 more	GUncertain significance

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Items: 22