261734[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC129929074, LOC129929075 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929144, LOC129929145 +458 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ACAP3, ACOT7 +401 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929237, LOC129929238 +401 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 57390	GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	ACOT7, ACTRT2 +226 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 58041	GRCh38/hg38 1p36.32-36.31(chr1:4799319-6129675)x3	CHD5, KCNAB2 +27 more	Copy number gain	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 151337	GRCh38/hg38 1p36.31(chr1:5554106-5969826)x4	LOC108281186, LOC121677385 +4 more	Copy number gain	See cases	GLikely benign
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 3047954	NM_015102.5(NPHP4):c.4251G>A (p.Glu1417=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	NPHP4-related disorder	GLikely benign
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)	Senior-Loken syndrome 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 498745	NM_015102.5(NPHP4):c.4211T>C (p.Ile1404Thr)	NPHP4 (I1404T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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)	not specified +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 3201661	NM_015102.5(NPHP4):c.4145G>C (p.Gly1382Ala)	NPHP4 (G870A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 3043406	NM_015102.5(NPHP4):c.4141-32G>A	NPHP4	Single nucleotide variant (intron variant)	NPHP4-related disorder	GBenign
Select item 1290771	NM_015102.5(NPHP4):c.4140+162A>C	NPHP4	Single nucleotide variant (intron variant)	not provided	GBenign
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 +2 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)	Nephronophthisis +2 more	GUncertain significance
Select item 1135703	NM_015102.5(NPHP4):c.4101C>T (p.Asp1367=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +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)	Nephronophthisis +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 2607458	NM_015102.5(NPHP4):c.4088A>G (p.His1363Arg)	NPHP4 (H851R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 +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

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