styphnolobium sporadic - ClinVar - NCBI

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The following term was not found in ClinVar: styphnolobium.
Showing results for Styphnolobium sporadicum. Your search for Styphnolobium sporadicum retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 692090	NM_001330311.2(DVL1):c.737C>T (p.Ser246Phe)	DVL1 (S246F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 224716	NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)	GNB1 (L95P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental delay +7 more	GPathogenic/Likely pathogenic
Select item 1695374	NM_003036.4(SKI):c.350G>A (p.Gly117Asp)	SKI (G117D)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GLikely pathogenic
Select item 1301909	NM_018216.4(PANK4):c.607-53G>A	PANK4	Single nucleotide variant (intron variant)	Cataract 49	GPathogenic
Select item 297781	NM_015102.5(NPHP4):c.*314T>G	NPHP4	Single nucleotide variant (3 prime UTR variant +1 more)	Nephronophthisis 4 +1 more	GBenign
Select item 876727	NM_015102.5(NPHP4):c.*285G>A	NPHP4	Single nucleotide variant (3 prime UTR variant +1 more)	Senior-Loken syndrome 4 +1 more	GUncertain significance
Select item 297782	NM_015102.5(NPHP4):c.*128A>C	NPHP4	Single nucleotide variant (3 prime UTR variant +1 more)	Nephronophthisis 4 +1 more	GBenign
Select item 873895	NM_015102.5(NPHP4):c.*97T>A	NPHP4	Single nucleotide variant (3 prime UTR variant +1 more)	Nephronophthisis 4 +1 more	GUncertain significance
Select item 873896	NM_015102.5(NPHP4):c.*87C>G	NPHP4	Single nucleotide variant (3 prime UTR variant +1 more)	Nephronophthisis 4 +1 more	GUncertain significance
Select item 297783	NM_015102.5(NPHP4):c.*26C>T	NPHP4	Single nucleotide variant (3 prime UTR variant +1 more)	Senior-Loken syndrome 4 +1 more	GUncertain significance
Select item 1948314	NM_015102.5(NPHP4):c.4269C>T (p.Val1423=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 1903077	NM_015102.5(NPHP4):c.4267G>C (p.Val1423Leu)	NPHP4 (V910L +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 843518	NM_015102.5(NPHP4):c.4267G>A (p.Val1423Ile)	NPHP4 (V1423I +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1005319	NM_015102.5(NPHP4):c.4261G>A (p.Val1421Met)	NPHP4 (V1421M +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 531638	NM_015102.5(NPHP4):c.4260C>T (p.Cys1420=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2681745	NM_015102.5(NPHP4):c.4237_4249del (p.Asp1413fs)	NPHP4 (D1413fs +2 more)	Deletion (frameshift variant +1 more)	Nephronophthisis 4	GPathogenic
Select item 1386544	NM_015102.5(NPHP4):c.4249G>A (p.Glu1417Lys)	NPHP4 (E1417K +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2056784	NM_015102.5(NPHP4):c.4246G>A (p.Glu1416Lys)	NPHP4 (E903K +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2082279	NM_015102.5(NPHP4):c.4245C>T (p.Asn1415=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 595255	NM_015102.5(NPHP4):c.4239C>G (p.Asp1413Glu)	NPHP4 (D1413E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 297784	NM_015102.5(NPHP4):c.4237G>A (p.Asp1413Asn)	NPHP4 (D1413N +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +3 more	GBenign/Likely benign
Select item 597200	NM_015102.5(NPHP4):c.4233T>C (p.His1411=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2182921	NM_015102.5(NPHP4):c.4232A>G (p.His1411Arg)	NPHP4 (H898R +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2110277	NM_015102.5(NPHP4):c.4225A>G (p.Asn1409Asp)	NPHP4 (N1409D +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1018258	NM_015102.5(NPHP4):c.4222A>G (p.Ile1408Val)	NPHP4 (I1408V +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 597701	NM_015102.5(NPHP4):c.4221C>T (p.Tyr1407=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 595291	NM_015102.5(NPHP4):c.4220A>G (p.Tyr1407Cys)	NPHP4 (Y1407C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1417313	NM_015102.5(NPHP4):c.4217T>G (p.Ile1406Ser)	NPHP4 (I1406S +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1658802	NM_015102.5(NPHP4):c.4209G>A (p.Glu1403=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 1018521	NM_015102.5(NPHP4):c.4199G>A (p.Gly1400Asp)	NPHP4 (G1400D +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1019523	NM_015102.5(NPHP4):c.4198G>A (p.Gly1400Ser)	NPHP4 (G1400S +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2812382	NM_015102.5(NPHP4):c.4196T>C (p.Val1399Ala)	NPHP4 (V1399A +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1005425	NM_015102.5(NPHP4):c.4195G>A (p.Val1399Met)	NPHP4 (V1399M +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 596153	NM_015102.5(NPHP4):c.4182G>A (p.Ala1394=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1408463	NM_015102.5(NPHP4):c.4181C>T (p.Ala1394Val)	NPHP4 (A882V +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 95686	NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu)	NPHP4 (F1393L +2 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 4 +4 more	GConflicting classifications of pathogenicity
Select item 2145248	NM_015102.5(NPHP4):c.4175A>G (p.Gln1392Arg)	NPHP4 (Q879R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1486799	NM_015102.5(NPHP4):c.4172T>A (p.Leu1391Ter)	NPHP4 (L1391* +2 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis	GUncertain significance
Select item 1559693	NM_015102.5(NPHP4):c.4167C>T (p.Ile1389=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +2 more	GLikely benign
Select item 3019406	NM_015102.5(NPHP4):c.4164C>T (p.Thr1388=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 1036868	NM_015102.5(NPHP4):c.4163C>T (p.Thr1388Ile)	NPHP4 (T876I +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1040125	NM_015102.5(NPHP4):c.4157C>A (p.Thr1386Asn)	NPHP4 (T1386N +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2157110	NM_015102.5(NPHP4):c.4146G>A (p.Gly1382=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 196631	NM_015102.5(NPHP4):c.4145G>A (p.Gly1382Glu)	NPHP4 (G1382E +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +4 more	GUncertain significance
Select item 1441184	NM_015102.5(NPHP4):c.4144G>A (p.Gly1382Arg)	NPHP4 (G869R +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 288025	NM_015102.5(NPHP4):c.4143C>T (p.Val1381=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2114320	NM_015102.5(NPHP4):c.4141G>A (p.Val1381Ile)	NPHP4 (V868I +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 260560	NM_015102.5(NPHP4):c.4141-11C>T	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis 4 +3 more	GConflicting classifications of pathogenicity
Select item 2051222	NM_015102.5(NPHP4):c.4141-12G>A	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2894756	NM_015102.5(NPHP4):c.4140+16G>A	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 1622981	NM_015102.5(NPHP4):c.4140+11dup	NPHP4	Duplication (intron variant)	Nephronophthisis	GBenign
Select item 1136281	NM_015102.5(NPHP4):c.4140+12C>T	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2992711	NM_015102.5(NPHP4):c.4140+11G>A	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2049749	NM_015102.5(NPHP4):c.4140+9G>A	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GUncertain significance
Select item 1427369	NM_015102.5(NPHP4):c.4140+3G>C	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GUncertain significance
Select item 499386	NM_015102.5(NPHP4):c.4118G>A (p.Arg1373Gln)	NPHP4 (R1373Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1448868	NM_015102.5(NPHP4):c.4117C>T (p.Arg1373Trp)	NPHP4 (R1373W +2 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 4 +3 more	GUncertain significance
Select item 974483	NM_015102.5(NPHP4):c.4115T>C (p.Leu1372Pro)	NPHP4 (L1372P +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4	GLikely pathogenic
Select item 215887	NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1146665	NM_015102.5(NPHP4):c.4113G>C (p.Leu1371=)	NPHP4	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 1078467	NM_015102.5(NPHP4):c.4113G>T (p.Leu1371=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 597031	NM_015102.5(NPHP4):c.4107G>A (p.Pro1369=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 500165	NM_015102.5(NPHP4):c.4106C>T (p.Pro1369Leu)	NPHP4 (P1369L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 945361	NM_015102.5(NPHP4):c.4105C>T (p.Pro1369Ser)	NPHP4 (P1369S +2 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 4 +3 more	GUncertain significance
Select item 1135703	NM_015102.5(NPHP4):c.4101C>T (p.Asp1367=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	NPHP4-related disorder +1 more	GLikely benign
Select item 595271	NM_015102.5(NPHP4):c.4099G>A (p.Asp1367Asn)	NPHP4 (D1367N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 2741389	NM_015102.5(NPHP4):c.4098C>T (p.Ser1366=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	NPHP4-related disorder +1 more	GLikely benign
Select item 1525302	NM_015102.5(NPHP4):c.4093C>T (p.His1365Tyr)	NPHP4 (H853Y +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2764941	NM_015102.5(NPHP4):c.4092G>C (p.Leu1364=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 1112750	NM_015102.5(NPHP4):c.4080G>A (p.Arg1360=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 874843	NM_015102.5(NPHP4):c.4076G>A (p.Arg1359Gln)	NPHP4 (R846Q +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 190975	NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp)	NPHP4 (R1359W +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +3 more	GConflicting classifications of pathogenicity
Select item 1977132	NM_015102.5(NPHP4):c.4073C>T (p.Ser1358Phe)	NPHP4 (S845F +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1010230	NM_015102.5(NPHP4):c.4067A>T (p.Tyr1356Phe)	NPHP4 (Y1356F +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2009831	NM_015102.5(NPHP4):c.4065del (p.Tyr1356fs)	NPHP4 (Y843fs +2 more)	Deletion (frameshift variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1120880	NM_015102.5(NPHP4):c.4065C>T (p.Pro1355=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 1941825	NM_015102.5(NPHP4):c.4062C>T (p.Asn1354=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 1061435	NM_015102.5(NPHP4):c.4057A>G (p.Thr1353Ala)	NPHP4 (T1353A +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 852752	NM_015102.5(NPHP4):c.4052C>G (p.Thr1351Ser)	NPHP4 (T1351S +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 596050	NM_015102.5(NPHP4):c.4051A>C (p.Thr1351Pro)	NPHP4 (T1351P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1052230	NM_015102.5(NPHP4):c.4046G>A (p.Arg1349Lys)	NPHP4 (R1349K +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 291157	NM_015102.5(NPHP4):c.4034G>A (p.Gly1345Asp)	NPHP4 (G1345D +2 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 4 +4 more	GUncertain significance
Select item 860396	NM_015102.5(NPHP4):c.4028G>A (p.Gly1343Glu)	NPHP4 (G831E +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2008421	NM_015102.5(NPHP4):c.4026A>G (p.Glu1342=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 1986817	NM_015102.5(NPHP4):c.4024G>A (p.Glu1342Lys)	NPHP4 (E830K +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1013842	NM_015102.5(NPHP4):c.4023C>T (p.Gly1341=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	NPHP4-related disorder +1 more	GLikely benign
Select item 1016708	NM_015102.5(NPHP4):c.4019C>T (p.Ala1340Val)	NPHP4 (A1340V +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1380519	NM_015102.5(NPHP4):c.4018G>A (p.Ala1340Thr)	NPHP4 (A827T +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 594982	NM_015102.5(NPHP4):c.4006A>G (p.Ile1336Val)	NPHP4 (I1336V +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1431959	NM_015102.5(NPHP4):c.3998C>G (p.Ala1333Gly)	NPHP4 (A1333G +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1433510	NM_015102.5(NPHP4):c.3997-3C>T	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GUncertain significance
Select item 1544101	NM_015102.5(NPHP4):c.3997-5C>T	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2710885	NM_015102.5(NPHP4):c.3997-7T>A	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2004534	NM_015102.5(NPHP4):c.3997-12C>T	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 1651451	NM_015102.5(NPHP4):c.3997-12del	NPHP4	Deletion (intron variant)	Nephronophthisis	GBenign
Select item 1578944	NM_015102.5(NPHP4):c.3997-13C>T	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 1129425	NM_015102.5(NPHP4):c.3997-15C>T	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 1591719	NM_015102.5(NPHP4):c.3997-17G>C	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2894638	NM_015102.5(NPHP4):c.3996+17G>C	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign

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