1729[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 147816	GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1	DELE1, DIAPH1 +123 more	Copy number loss	See cases	GUncertain significance
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	LOC129994934, LOC129994935 +313 more	Copy number gain	See cases	GPathogenic
Select item 351253	NM_005219.5(DIAPH1):c.1765_1766dup	DIAPH1	Duplication (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 351254	NM_005219.5(DIAPH1):c.*1703AG[6]	DIAPH1	Microsatellite (3 prime UTR variant)	Nonsyndromic Hearing Loss, Mixed	GUncertain significance
Select item 351255	NM_005219.5(DIAPH1):c.*1654C>G	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GUncertain significance
Select item 351256	NM_005219.5(DIAPH1):c.*1637G>C	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GLikely benign
Select item 351257	NM_005219.5(DIAPH1):c.*1622TCC[1]	DIAPH1	Microsatellite (3 prime UTR variant)	Nonsyndromic Hearing Loss, Mixed	GLikely benign
Select item 351258	NM_005219.5(DIAPH1):c.*1607C>T	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GBenign
Select item 351259	NM_005219.5(DIAPH1):c.*1597G>A	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GBenign
Select item 351260	NM_005219.5(DIAPH1):c.*1557C>T	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GLikely benign
Select item 351261	NM_005219.5(DIAPH1):c.*1544A>G	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GUncertain significance
Select item 903903	NM_005219.5(DIAPH1):c.*1533C>T	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GUncertain significance
Select item 351262	NM_005219.5(DIAPH1):c.*1444T>G	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GUncertain significance
Select item 351263	NM_005219.5(DIAPH1):c.*1395C>T	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GUncertain significance
Select item 351264	NM_005219.5(DIAPH1):c.*1364T>C	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GBenign
Select item 351265	NM_005219.5(DIAPH1):c.*1347C>G	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GBenign
Select item 351266	NM_005219.5(DIAPH1):c.*1337C>T	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GUncertain significance
Select item 351267	NM_005219.5(DIAPH1):c.*1322C>G	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GLikely benign
Select item 905790	NM_005219.5(DIAPH1):c.*1309A>T	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GUncertain significance
Select item 351268	NM_005219.5(DIAPH1):c.*1304A>G	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GBenign
Select item 351269	NM_005219.5(DIAPH1):c.*1041G>A	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GBenign
Select item 351270	NM_005219.5(DIAPH1):c.*1006T>C	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GUncertain significance
Select item 351272	NM_005219.5(DIAPH1):c.*933T>A	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GBenign
Select item 351271	NM_005219.5(DIAPH1):c.*932dup	DIAPH1	Duplication (3 prime UTR variant)	Nonsyndromic Hearing Loss, Mixed	GUncertain significance
Select item 906296	NM_005219.5(DIAPH1):c.*870G>A	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GUncertain significance
Select item 906297	NM_005219.5(DIAPH1):c.*867G>A	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GUncertain significance
Select item 906298	NM_005219.5(DIAPH1):c.*811A>C	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GUncertain significance
Select item 351273	NM_005219.5(DIAPH1):c.*755T>C	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GLikely benign
Select item 351274	NM_005219.5(DIAPH1):c.*734C>T	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GLikely benign
Select item 906299	NM_005219.5(DIAPH1):c.*724C>T	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GUncertain significance
Select item 351275	NM_005219.5(DIAPH1):c.*709C>T	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GLikely benign
Select item 351276	NM_005219.5(DIAPH1):c.*701T>C	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GUncertain significance
Select item 907311	NM_005219.5(DIAPH1):c.*644C>T	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GUncertain significance
Select item 351277	NM_005219.5(DIAPH1):c.*618G>C	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GBenign
Select item 351278	NM_005219.5(DIAPH1):c.*533G>A	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GUncertain significance
Select item 907312	NM_005219.5(DIAPH1):c.*521G>A	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GUncertain significance
Select item 351279	NM_005219.5(DIAPH1):c.*367C>G	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GConflicting classifications of pathogenicity
Select item 907313	NM_005219.5(DIAPH1):c.*332T>G	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GUncertain significance
Select item 907314	NM_005219.5(DIAPH1):c.*325G>C	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GLikely benign
Select item 351280	NM_005219.5(DIAPH1):c.*254G>A	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GUncertain significance
Select item 351281	NM_005219.5(DIAPH1):c.*236T>C	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GUncertain significance
Select item 976574	NM_005219.5(DIAPH1):c.*224G>A	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GLikely benign
Select item 351282	NM_005219.5(DIAPH1):c.*217C>T	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GLikely benign
Select item 351283	NM_005219.5(DIAPH1):c.124_126del	DIAPH1	Deletion (3 prime UTR variant)	Nonsyndromic Hearing Loss, Mixed	GLikely benign
Select item 976575	NM_005219.5(DIAPH1):c.*88C>T	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 351284	NM_005219.5(DIAPH1):c.*39G>A	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GUncertain significance
Select item 351285	NM_005219.5(DIAPH1):c.*16C>T	DIAPH1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 1	GLikely benign
Select item 1185939	NM_005219.5(DIAPH1):c.*5G>T	DIAPH1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2197126	NM_005219.5(DIAPH1):c.3818A>C (p.Ter1273Ser)	DIAPH1	Single nucleotide variant (stop lost +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2088128	NM_005219.5(DIAPH1):c.3818A>G (p.Ter1273=)	DIAPH1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 1466418	NM_005219.5(DIAPH1):c.3818A>T (p.Ter1273Leu)	DIAPH1	Single nucleotide variant (stop lost +1 more)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 1311416	NM_005219.5(DIAPH1):c.3812C>T (p.Ala1271Val)	DIAPH1 (A1262V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 542357	NM_005219.5(DIAPH1):c.3811G>T (p.Ala1271Ser)	DIAPH1 (A1271S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 1019918	NM_005219.5(DIAPH1):c.3809G>T (p.Arg1270Leu)	DIAPH1 (R1261L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 542360	NM_005219.5(DIAPH1):c.3809G>A (p.Arg1270His)	DIAPH1 (R1261H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1478549	NM_005219.5(DIAPH1):c.3808C>T (p.Arg1270Cys)	DIAPH1 (R1261C +1 more)	Single nucleotide variant (missense variant +1 more)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 1383423	NM_005219.5(DIAPH1):c.3803T>C (p.Val1268Ala)	DIAPH1 (V1259A +1 more)	Single nucleotide variant (missense variant +1 more)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2931951	NM_005219.5(DIAPH1):c.3799T>C (p.Leu1267=)	DIAPH1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 1509860	NM_005219.5(DIAPH1):c.3793A>T (p.Lys1265Ter)	DIAPH1 (K1256* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 1158471	NM_005219.5(DIAPH1):c.3792C>T (p.Ala1264=)	DIAPH1	Single nucleotide variant (synonymous variant +1 more)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GLikely benign
Select item 758245	NM_005219.5(DIAPH1):c.3783T>C (p.Leu1261=)	DIAPH1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 1473045	NM_005219.5(DIAPH1):c.3781C>T (p.Leu1261Phe)	DIAPH1 (L1252F +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 796837	NM_005219.5(DIAPH1):c.3777A>G (p.Thr1259=)	DIAPH1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GConflicting classifications of pathogenicity
Select item 2939292	NM_005219.5(DIAPH1):c.3775A>G (p.Thr1259Ala)	DIAPH1 (T1259A +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 1518689	NM_005219.5(DIAPH1):c.3772C>T (p.Pro1258Ser)	DIAPH1 (P1249S +1 more)	Single nucleotide variant (missense variant +1 more)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 655958	NM_005219.5(DIAPH1):c.3767C>T (p.Thr1256Ile)	DIAPH1 (T1247I +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 178606	NM_005219.5(DIAPH1):c.3765G>A (p.Glu1255=)	DIAPH1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +2 more	GBenign
Select item 966429	NM_005219.5(DIAPH1):c.3764A>G (p.Glu1255Gly)	DIAPH1 (E1246G +1 more)	Single nucleotide variant (missense variant +1 more)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 1035998	NM_005219.5(DIAPH1):c.3758A>G (p.Asn1253Ser)	DIAPH1 (N1253S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2935207	NM_005219.5(DIAPH1):c.3750G>A (p.Val1250=)	DIAPH1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 1525301	NM_005219.5(DIAPH1):c.3748G>A (p.Val1250Met)	DIAPH1 (V1250M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 1392230	NM_005219.5(DIAPH1):c.3748G>C (p.Val1250Leu)	DIAPH1 (V1241L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 905856	NM_005219.5(DIAPH1):c.3736G>T (p.Val1246Phe)	DIAPH1 (V1237F +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1	GUncertain significance
Select item 542362	NM_005219.5(DIAPH1):c.3727A>G (p.Met1243Val)	DIAPH1 (M1243V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 1657715	NM_005219.5(DIAPH1):c.3726C>G (p.Ala1242=)	DIAPH1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2953888	NM_005219.5(DIAPH1):c.3711G>A (p.Leu1237=)	DIAPH1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 2943468	NM_005219.5(DIAPH1):c.3709C>A (p.Leu1237Met)	DIAPH1 (L1228M +1 more)	Single nucleotide variant (missense variant +1 more)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 2948756	NM_005219.5(DIAPH1):c.3706G>C (p.Glu1236Gln)	DIAPH1 (E1236Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 1686622	NM_005219.5(DIAPH1):c.3706G>T (p.Glu1236Ter)	DIAPH1 (E1227* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 1511434	NM_005219.5(DIAPH1):c.3705G>A (p.Ser1235=)	DIAPH1	Single nucleotide variant (synonymous variant +1 more)	DIAPH1-related condition +2 more	GLikely benign
Select item 2355083	NM_005219.5(DIAPH1):c.3704C>T (p.Ser1235Leu)	DIAPH1 (S1235L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 228573	NM_005219.5(DIAPH1):c.3704C>G (p.Ser1235Trp)	DIAPH1 (S1235W +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +2 more	GUncertain significance
Select item 475709	NM_005219.5(DIAPH1):c.3701C>T (p.Ala1234Val)	DIAPH1 (A1225V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 1719660	NM_005219.5(DIAPH1):c.3694C>G (p.Leu1232Val)	DIAPH1 (L1223V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2135112	NM_005219.5(DIAPH1):c.3693T>C (p.Ser1231=)	DIAPH1 (L1249P)	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 762519	NM_005219.5(DIAPH1):c.3690A>T (p.Thr1230=)	DIAPH1 (H1248L)	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GLikely benign
Select item 1482514	NM_005219.5(DIAPH1):c.3689C>T (p.Thr1230Ile)	DIAPH1 (T1230I +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 1520949	NM_005219.5(DIAPH1):c.3680G>A (p.Cys1227Tyr)	DIAPH1 (C1227Y +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 953644	NM_005219.5(DIAPH1):c.3679T>C (p.Cys1227Arg)	DIAPH1 (C1227R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2921530	NM_005219.5(DIAPH1):c.3678G>A (p.Gly1226=)	DIAPH1 (G1244D)	Single nucleotide variant (synonymous variant +1 more)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GLikely benign
Select item 862223	NM_005219.5(DIAPH1):c.3677G>A (p.Gly1226Glu)	DIAPH1 (G1244S +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 2197386	NM_005219.5(DIAPH1):c.3676G>A (p.Gly1226Arg)	DIAPH1 (G1217R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 475708	NM_005219.5(DIAPH1):c.3675C>T (p.Ala1225=)	DIAPH1 (P1243L)	Single nucleotide variant (synonymous variant +1 more)	DIAPH1-related condition +3 more	GLikely benign
Select item 2945268	NM_005219.5(DIAPH1):c.3673G>T (p.Ala1225Ser)	DIAPH1 (A1225S +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 936414	NM_005219.5(DIAPH1):c.3671A>G (p.Lys1224Arg)	DIAPH1 (K1224R +2 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 1045751	NM_005219.5(DIAPH1):c.3665A>G (p.Asn1222Ser)	DIAPH1 (N1213S +2 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance

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