"GeneDx"[submitter] AND "LOC129937586"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 60091	GRCh38/hg38 3q22.1(chr3:132639520-132972626)x1	ACAD11, LOC129937585 +8 more	Copy number loss	See cases	GUncertain significance
Select item 57793	GRCh38/hg38 3q22.1(chr3:132662034-133263499)x3	LOC112903835, LOC112903836 +11 more	Copy number gain	See cases	GUncertain significance
Select item 593900	NM_153240.5(NPHP3):c.276G>C (p.Glu92Asp)	NPHP3-ACAD11, NPHP3-AS1 +2 more (E92D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 193505	NM_153240.5(NPHP3):c.273del (p.Glu90_Tyr91insTer)	LOC129937586, NPHP3-ACAD11 +2 more	Deletion (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 462726	NM_153240.5(NPHP3):c.255G>A (p.Glu85=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
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 514395	NM_153240.5(NPHP3):c.189G>A (p.Gly63=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 262694	NM_153240.5(NPHP3):c.189G>C (p.Gly63=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
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 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 1436592	NM_153240.5(NPHP3):c.155C>A (p.Ala52Glu)	LOC129937586, NPHP3 +2 more (A52E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 96509	NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)	LOC129937586, NPHP3-AS1 +2 more (A52T)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +6 more	GConflicting classifications of pathogenicity
Select item 498043	NM_153240.5(NPHP3):c.151_152delinsTT (p.Ala51Leu)	LOC129937586, NPHP3 +2 more (A51L)	Indel (non-coding transcript variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 498140	NM_153240.5(NPHP3):c.118C>T (p.Leu40=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3343276	NM_153240.5(NPHP3):c.110A>G (p.Lys37Arg)	LOC129937586, NPHP3 +2 more (K37R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 193504	NM_153240.5(NPHP3):c.105G>A (p.Lys35=)	NPHP3-AS1, LOC129937586 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +6 more	GConflicting classifications of pathogenicity
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 167369	NM_153240.5(NPHP3):c.57G>C (p.Thr19=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +6 more	GBenign/Likely benign