C1568247[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 226441	NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)	USH2A (C3307W)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 48509	NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)	USH2A, USH2A-AS1 (G1301V)	Single nucleotide variant	Usher syndrome	GBenign FDA Recognized database
Select item 880066	NM_001384140.1(PCDH15):c.4368-1519A>G	PCDH15	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GUncertain significance
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 1 +3 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 provided +4 more	GBenign
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 +5 more	GBenign/Likely benign
Select item 300171	NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg)	PCDH15 (P1773R +8 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1F +4 more	GUncertain significance
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)	Autosomal recessive nonsyndromic hearing loss 23 +5 more	GBenign/Likely benign
Select item 46477	NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys)	PCDH15 (Q1342K +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F +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)	Usher syndrome type 1D +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 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 300188	NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met)	PCDH15 (V861M +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 23 +6 more	GUncertain significance
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 46441	NM_001384140.1(PCDH15):c.1339G>A (p.Asp447Asn)	PCDH15 (D447N +5 more)	Single nucleotide variant (missense variant)	not specified +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 1F +5 more	GBenign
Select item 281800	NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala)	PCDH15 (G407A +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +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)	Usher syndrome type 1 +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 1 +5 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 1F +5 more	GPathogenic
Select item 300202	NM_001384140.1(PCDH15):c.594G>A (p.Pro198=)	PCDH15	Single nucleotide variant (synonymous variant)	Usher syndrome type 1D +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)	Inborn genetic diseases +5 more	GUncertain significance
Select item 45899	NM_022124.6(CDH23):c.269G>A (p.Arg90Gln)	CDH23, CDH23-AS1 (R90Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 969101	NM_022124.6(CDH23):c.415G>A (p.Val139Ile)	CDH23, CDH23-AS1 (V139I)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +4 more	GUncertain significance
Select item 4928	NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)	CDH23 (P240L)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 228502	NM_022124.6(CDH23):c.752C>T (p.Pro251Leu)	CDH23 (P251L)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1015132	NM_022124.6(CDH23):c.778G>T (p.Ala260Ser)	CDH23 (A260S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GUncertain significance
Select item 618006	NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)	CDH23 (A328T)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +4 more	GConflicting classifications of pathogenicity
Select item 852140	NM_022124.6(CDH23):c.1213G>A (p.Val405Ile)	CDH23 (V405I)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +3 more	GConflicting classifications of pathogenicity
Select item 1006937	NM_022124.6(CDH23):c.1270G>A (p.Val424Met)	CDH23 (V424M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GConflicting classifications of pathogenicity
Select item 959161	NM_022124.6(CDH23):c.1305G>C (p.Glu435Asp)	CDH23 (E435D)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 45872	NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala)	CDH23 (G490A)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +5 more	GBenign
Select item 228485	NM_022124.6(CDH23):c.1672G>A (p.Val558Met)	CDH23 (V558M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 991909	NM_022124.6(CDH23):c.1699G>A (p.Val567Met)	CDH23 (V567M)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +3 more	GUncertain significance
Select item 178301	NM_022124.6(CDH23):c.1867G>A (p.Val623Ile)	CDH23 (V623I)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 968565	NM_022124.6(CDH23):c.1874G>A (p.Arg625His)	CDH23 (R625H)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +3 more	GUncertain significance
Select item 194889	NM_022124.6(CDH23):c.1919C>T (p.Thr640Met)	CDH23 (T640M)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +4 more	GUncertain significance
Select item 96024	NM_022124.6(CDH23):c.1981G>A (p.Val661Met)	CDH23 (V661M)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 967826	NM_022124.6(CDH23):c.2122T>G (p.Ser708Ala)	CDH23 (S708A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +4 more	GUncertain significance
Select item 991917	NM_022124.6(CDH23):c.2189C>T (p.Thr730Ile)	CDH23 (T730I)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +2 more	GUncertain significance
Select item 162894	NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)	CDH23 (V746I)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 967827	NM_022124.6(CDH23):c.2251G>A (p.Gly751Arg)	CDH23 (G751R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GUncertain significance
Select item 45891	NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)	CDH23 (H755Y)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 300415	NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp)	CDH23 (R842W)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 953296	NM_022124.6(CDH23):c.2745C>G (p.Ile915Met)	CDH23 (I915M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 849045	NM_022124.6(CDH23):c.2804G>A (p.Arg935His)	CDH23 (R935H)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +3 more	GUncertain significance
Select item 989819	NM_022124.6(CDH23):c.2863C>A (p.Arg955Ser)	CDH23 (R955S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 970376	NM_022124.6(CDH23):c.2864G>A (p.Arg955His)	CDH23 (R955H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 505137	NM_022124.6(CDH23):c.2870G>A (p.Arg957His)	CDH23 (R957H)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 966408	NM_022124.6(CDH23):c.2953G>C (p.Val985Leu)	CDH23 (V985L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 618010	NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)	CDH23 (E1006K)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +5 more	GPathogenic/Likely pathogenic
Select item 166811	NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)	CDH23 (V1008M)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 930069	NM_022124.6(CDH23):c.3115G>A (p.Val1039Met)	CDH23 (V1039M)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 228489	NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr)	CDH23 (D1040Y)	Single nucleotide variant (missense variant)	CDH23-related disorder +5 more	GUncertain significance
Select item 196040	NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val)	CDH23 (L1058V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 45912	NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)	C10orf105, CDH23 (V1088M)	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 1D +5 more	GConflicting classifications of pathogenicity
Select item 989823	NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg)	C10orf105, CDH23 (S1110R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 45918	NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys)	C10orf105, CDH23 (E1133K)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1D +4 more	GConflicting classifications of pathogenicity
Select item 4927	NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)	C10orf105, CDH23 (T1209A)	Single nucleotide variant (missense variant +1 more)	Usher syndrome	GBenign FDA Recognized database
Select item 228480	NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys)	C10orf105, CDH23 (R1247C)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 45934	NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp)	C10orf105, CDH23 (G1329D)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 178685	NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp)	C10orf105, CDH23 (R1334W)	Single nucleotide variant (missense variant +1 more)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 1009489	NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp)	CDH23 (R1417W)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 45943	NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter)	CDH23 (R1437*)	Single nucleotide variant (nonsense)	Usher syndrome type 1D +4 more	GPathogenic
Select item 45947	NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val)	CDH23 (A1464V)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +4 more	GConflicting classifications of pathogenicity
Select item 179731	NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val)	CDH23 (I1469V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 879773	NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln)	CDH23 (R1507Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 957346	NM_022124.6(CDH23):c.4617+5G>C	CDH23	Single nucleotide variant (intron variant)	Usher syndrome type 1D +3 more	GUncertain significance
Select item 970776	NM_022124.6(CDH23):c.4621G>A (p.Val1541Met)	CDH23 (V1541M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 45957	NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)	CDH23 (V1620M)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +4 more	GBenign/Likely benign
Select item 838454	NM_022124.6(CDH23):c.4864G>A (p.Val1622Met)	CDH23 (V1622M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 862333	NM_022124.6(CDH23):c.5116C>T (p.Arg1706Cys)	CDH23 (R1706C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 859233	NM_022124.6(CDH23):c.5117G>A (p.Arg1706His)	CDH23 (R1706H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 4916	NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)	CDH23 (R1746Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +9 more	GPathogenic
Select item 812254	NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)	CDH23 (R1771*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 444220	NM_022124.6(CDH23):c.5363C>T (p.Pro1788Leu)	CDH23 (P1788L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 45977	NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp)	CDH23 (R1804W)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 45976	NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)	CDH23 (D1806E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +4 more	GBenign/Likely benign
Select item 444221	NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr)	CDH23 (A1898T)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis +4 more	GUncertain significance
Select item 422021	NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser)	CDH23 (N1982S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 300449	NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val)	CDH23 (L2002V)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +4 more	GUncertain significance
Select item 46001	NM_022124.6(CDH23):c.6050-9G>A	CDH23	Single nucleotide variant (intron variant)	not provided +4 more	GPathogenic
Select item 228499	NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)	CDH23 (D2218E)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +4 more	GConflicting classifications of pathogenicity
Select item 990290	NM_022124.6(CDH23):c.6808C>T (p.Arg2270Cys)	CDH23 (R2270C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 505846	NM_022124.6(CDH23):c.6829+3A>G	CDH23	Single nucleotide variant (intron variant)	not specified +4 more	GUncertain significance
Select item 840016	NM_022124.6(CDH23):c.6869C>T (p.Thr2290Met)	CDH23 (T50M +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +3 more	GUncertain significance
Select item 46021	NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)	CDH23 (R2304Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +5 more	GConflicting classifications of pathogenicity
Select item 96026	NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu)	CDH23 (S2350L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GConflicting classifications of pathogenicity
Select item 729529	NM_022124.6(CDH23):c.7113C>T (p.Thr2371=)	CDH23	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 505041	NM_022124.6(CDH23):c.7177G>A (p.Val2393Met)	CDH23 (V2393M +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 990294	NM_022124.6(CDH23):c.7295G>A (p.Gly2432Asp)	CDH23 (G192D +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 504515	NM_022124.6(CDH23):c.7466G>A (p.Arg2489His)	CDH23 (R2489H +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 46032	NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)	CDH23 (E2490K +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 162943	NM_022124.6(CDH23):c.7552G>A (p.Val2518Met)	CDH23 (V2518M +1 more)	Single nucleotide variant (missense variant)	Hearing impairment +6 more	GUncertain significance
Select item 837238	NM_022124.6(CDH23):c.7634C>T (p.Thr2545Ile)	CDH23 (T2545I +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +4 more	GUncertain significance
Select item 935741	NM_022124.6(CDH23):c.7822C>T (p.Arg2608Cys)	CDH23 (R2608C +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 944185	NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg)	CDH23 (G2617R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 735477	NM_022124.6(CDH23):c.8121G>T (p.Pro2707=)	CDH23	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign

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