C1865885[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 553631	NM_001384140.1(PCDH15):c.5215A>T (p.Lys1739Ter)	PCDH15 (K1681* +4 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 23 +2 more	GUncertain significance
Select item 229131	NM_001384140.1(PCDH15):c.5105_5108dup (p.Asp1703_Ser1704insTer)	PCDH15	Duplication (nonsense +1 more)	not specified +3 more	GUncertain significance
Select item 1284435	NM_001384140.1(PCDH15):c.4978dup (p.Ser1660fs)	PCDH15 (S1595fs +4 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23 +2 more	GUncertain significance
Select item 1050593	NM_001384140.1(PCDH15):c.4712A>C (p.Glu1571Ala)	PCDH15 (E1506A +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 23 +3 more	GUncertain significance
Select item 552182	NM_001384140.1(PCDH15):c.4708C>T (p.Arg1570Ter)	PCDH15 (R1512* +4 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 23 +2 more	GUncertain significance
Select item 1200919	NM_001384140.1(PCDH15):c.4672-1444_4672-1441dup	PCDH15	Duplication (3 prime UTR variant +1 more)	not provided +3 more	GLikely benign
Select item 227000	NM_001384140.1(PCDH15):c.4672-1640A>G	PCDH15	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GBenign/Likely benign
Select item 552736	NM_001384140.1(PCDH15):c.4671+1420del	PCDH15 (T1644fs +1 more)	Deletion (frameshift variant +2 more)	Usher syndrome type 1D +2 more	GUncertain significance
Select item 880066	NM_001384140.1(PCDH15):c.4368-1519A>G	PCDH15	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23 +3 more	GUncertain significance
Select item 557346	NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs)	PCDH15 (R1887fs +8 more)	Duplication (frameshift variant +1 more)	Usher syndrome type 1F +4 more	GConflicting classifications of pathogenicity
Select item 300167	NM_033056.4(PCDH15):c.5653C>T (p.His1885Tyr)	PCDH15 (H1885Y +8 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1D +3 more	GUncertain significance
Select item 667308	NM_033056.4(PCDH15):c.5642G>T (p.Gly1881Val)	PCDH15 (G1858V +8 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23 +5 more	GUncertain significance
Select item 46505	NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)	PCDH15 (T1869del +8 more)	Microsatellite (inframe_deletion +1 more)	not specified +4 more	GBenign
Select item 554220	NM_033056.4(PCDH15):c.5520dup (p.Val1841fs)	PCDH15 (V1801fs +8 more)	Duplication (frameshift variant +1 more)	Usher syndrome type 1D +2 more	GUncertain significance
Select item 969826	NM_033056.4(PCDH15):c.5404A>G (p.Thr1802Ala)	PCDH15 (T1779A +8 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23 +3 more	GUncertain significance
Select item 46499	NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile)	PCDH15 (V1800I +8 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1F +6 more	GBenign/Likely benign
Select item 989773	NM_033056.4(PCDH15):c.5380A>C (p.Thr1794Pro)	PCDH15 (T1725P +8 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1D +3 more	GUncertain significance
Select item 1334341	NM_033056.4(PCDH15):c.5371CCT[1] (p.Pro1792_Pro1793del)	PCDH15	Microsatellite (inframe_deletion +1 more)	not provided +3 more	GUncertain significance
Select item 300171	NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg)	PCDH15 (P1773R +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 167425	NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del)	PCDH15	Deletion (inframe_deletion +1 more)	not provided +5 more	GBenign/Likely benign
Select item 505300	NM_033056.4(PCDH15):c.4925G>A (p.Gly1642Asp)	PCDH15 (G1642D +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 551989	NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs)	PCDH15 (K1567fs +8 more)	Deletion (frameshift variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 46484	NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser)	PCDH15 (N1617S +8 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1F +5 more	GBenign/Likely benign
Select item 227009	NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser)	PCDH15 (R1604S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 967773	NM_033056.4(PCDH15):c.4810A>G (p.Arg1604Gly)	PCDH15 (R1535G +8 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1D +4 more	GUncertain significance
Select item 847264	NM_033056.4(PCDH15):c.4644_4689dup (p.Arg1564delinsCysArgProIlePheThrGlnAsnThrSerGlnGluTer)	PCDH15	Duplication (nonsense +1 more)	Usher syndrome type 1D +3 more	GPathogenic
Select item 863467	NM_033056.4(PCDH15):c.4616A>T (p.Asn1539Ile)	PCDH15 (N1516I +8 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1D +3 more	GUncertain significance
Select item 965230	NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs)	PCDH15 (S1514fs +8 more)	Duplication (frameshift variant +1 more)	Usher syndrome type 1D +3 more	GPathogenic/Likely pathogenic
Select item 847128	NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer)	PCDH15	Duplication (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 23 +3 more	GPathogenic/Likely pathogenic
Select item 370591	NM_001384140.1(PCDH15):c.4367+1G>A	PCDH15	Single nucleotide variant (splice donor variant)	Usher syndrome type 1D +2 more	GLikely pathogenic
Select item 626268	NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup)	PCDH15	Microsatellite (inframe_insertion)	not provided +5 more	GBenign/Likely benign
Select item 550373	NM_001384140.1(PCDH15):c.4308GCC[2] (p.Pro1441_Pro1443del)	PCDH15	Microsatellite (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 23 +3 more	GUncertain significance
Select item 1406208	NM_001384140.1(PCDH15):c.4246C>A (p.Gln1416Lys)	PCDH15 (Q1391K +8 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +3 more	GUncertain significance
Select item 554510	NM_001384140.1(PCDH15):c.4127C>A (p.Ala1376Asp)	PCDH15 (A1376D +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 23 +2 more	GUncertain significance
Select item 46477	NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys)	PCDH15 (Q1342K +6 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 138586	NM_001384140.1(PCDH15):c.3983+12T>C	PCDH15	Single nucleotide variant (intron variant)	Usher syndrome type 1 +5 more	GBenign/Likely benign
Select item 46475	NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)	PCDH15 (R1273S +6 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 878950	NM_001384140.1(PCDH15):c.3555A>G (p.Ile1185Met)	PCDH15 (I1148M +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +4 more	GUncertain significance
Select item 758754	NM_001384140.1(PCDH15):c.3502-6G>A	PCDH15	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 23 +3 more	GLikely benign
Select item 179960	NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg)	PCDH15 (G1151R +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 23 +5 more	GBenign/Likely benign
Select item 46464	NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)	PCDH15 (R1106* +6 more)	Single nucleotide variant (nonsense)	Rare genetic deafness +5 more	GPathogenic/Likely pathogenic
Select item 1002834	NM_001384140.1(PCDH15):c.3154G>C (p.Gly1052Arg)	PCDH15 (G1015R +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 990231	NM_001384140.1(PCDH15):c.2981T>A (p.Leu994His)	PCDH15 (L1001H +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 23 +2 more	GUncertain significance
Select item 1011092	NM_001384140.1(PCDH15):c.2868+5G>A	PCDH15 (S958N)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1D +3 more	GUncertain significance
Select item 300188	NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met)	PCDH15 (V861M +6 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 990234	NM_001384140.1(PCDH15):c.2291G>T (p.Arg764Leu)	PCDH15 (R693L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 859596	NM_001384140.1(PCDH15):c.2214A>C (p.Gln738His)	PCDH15 (Q750H +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 164921	NM_001384140.1(PCDH15):c.2102C>T (p.Ala701Val)	PCDH15 (A701V +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 23 +4 more	GUncertain significance
Select item 850242	NM_001384140.1(PCDH15):c.2000C>T (p.Thr667Met)	PCDH15 (T672M +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 23 +4 more	GUncertain significance
Select item 177724	NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter)	PCDH15 (R643* +5 more)	Single nucleotide variant (nonsense +1 more)	Rare genetic deafness +4 more	GPathogenic
Select item 300192	NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile)	PCDH15 (V634I +5 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1 +5 more	GConflicting classifications of pathogenicity
Select item 964981	NM_001384140.1(PCDH15):c.1517C>T (p.Thr506Met)	PCDH15 (T513M +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 23 +4 more	GUncertain significance
Select item 1459364	NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter)	PCDH15 (Q467* +5 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1D +3 more	GPathogenic/Likely pathogenic
Select item 46441	NM_001384140.1(PCDH15):c.1339G>A (p.Asp447Asn)	PCDH15 (D447N +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 46439	NM_001384140.1(PCDH15):c.1263T>C (p.Thr421=)	PCDH15	Single nucleotide variant (synonymous variant)	Usher syndrome type 1D +5 more	GBenign
Select item 281800	NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala)	PCDH15 (G407A +3 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 46436	NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser)	PCDH15 (G380S +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 523753	NM_001384140.1(PCDH15):c.833G>A (p.Arg278His)	PCDH15 (R278H +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +5 more	GUncertain significance
Select item 164932	NM_001384140.1(PCDH15):c.734G>A (p.Arg245Gln)	PCDH15 (R245Q +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 4933	NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)	PCDH15 (R245* +3 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1 +5 more	GPathogenic
Select item 164933	NM_001384140.1(PCDH15):c.709C>T (p.Arg237Cys)	PCDH15 (R237C +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 300202	NM_001384140.1(PCDH15):c.594G>A (p.Pro198=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided +5 more	GUncertain significance
Select item 46509	NM_001384140.1(PCDH15):c.593C>T (p.Pro198Leu)	PCDH15 (P198L +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F +5 more	GUncertain significance
Select item 1054973	NM_001384140.1(PCDH15):c.215C>A (p.Thr72Asn)	PCDH15 (T50N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 23 +3 more	GUncertain significance

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Items: 64