"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "NPHP1"[gen - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2651263	NM_001128178.3(NPHP1):c.*206C>G	NPHP1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 425213	NM_001128178.3(NPHP1):c.1930G>C (p.Gly644Arg)	NPHP1 (G700R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2651264	NM_001128178.3(NPHP1):c.1762-486C>G	NPHP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 695732	NM_001128178.3(NPHP1):c.1701G>C (p.Val567=)	NPHP1	Single nucleotide variant (synonymous variant)	Nephronophthisis +1 more	GLikely benign
Select item 1076772	NM_001128178.3(NPHP1):c.1270-1G>A	NPHP1	Single nucleotide variant (splice acceptor variant)	Joubert syndrome with renal defect +2 more	GPathogenic
Select item 194327	NM_001128178.3(NPHP1):c.1270-4C>T	NPHP1	Single nucleotide variant (intron variant)	Senior-Loken syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 2651265	NM_001128178.3(NPHP1):c.1083+3657G>A	NPHP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 579607	NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)	NPHP1 (R347* +4 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 193569	NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)	NPHP1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 501325	NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met)	NPHP1 (T335M +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis +5 more	GBenign/Likely benign
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 2914090	NM_001128178.3(NPHP1):c.771+145C>T	NPHP1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +2 more	GLikely benign
Select item 1626677	NM_001128178.3(NPHP1):c.684A>G (p.Val228=)	NPHP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1136933	NM_001128178.3(NPHP1):c.558T>G (p.Pro186=)	NPHP1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 3024614	GRCh37/hg19 2q13(chr2:110814357-111177015)x0	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 3024613	GRCh37/hg19 2q13(chr2:110552043-111091471)x1	LIMS3, MALL +2 more	Copy number loss	not provided	GUncertain significance
Select item 2652124	GRCh37/hg19 2q13(chr2:110873265-113090065)x1	ACOXL, ANAPC1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2652123	GRCh37/hg19 2q13(chr2:110873265-110970348)x0	MALL, NPHP1	Copy number loss	not provided	GPathogenic
Select item 2578903	GRCh37/hg19 2q13(chr2:110881368-110962545)x0	NPHP1	Copy number loss	not provided	GPathogenic
Select item 809202	GRCh37/hg19 2q13(chr2:110881368-110962545)x1	NPHP1	Copy number loss	not provided	GUncertain significance
Select item 493590	GRCh37/hg19 2q13(chr2:110862477-110980401)x1	MALL, NPHP1	Copy number loss	not provided	GUncertain significance

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Items: 21