"GeneDx"[submitter] AND "C10orf105"[gene] - ClinVar

Search results

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 162905	NM_022124.6(CDH23):c.3230C>T (p.Pro1077Leu)	C10orf105, CDH23 (P1077L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 681868	NM_022124.6(CDH23):c.3231T>G (p.Pro1077=)	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 521399	NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter)	C10orf105, CDH23 (R1081*)	Single nucleotide variant (3 prime UTR variant +1 more)	Pituitary adenoma 5, multiple types +3 more	GPathogenic
Select item 45911	NM_022124.6(CDH23):c.3249G>A (p.Thr1083=)	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GConflicting classifications of pathogenicity
Select item 420498	NM_022124.6(CDH23):c.3250G>T (p.Gly1084Cys)	CDH23, C10orf105 (G1084C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1362422	NM_022124.6(CDH23):c.3254C>T (p.Thr1085Ile)	C10orf105, CDH23 (T1085I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 45913	NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser)	C10orf105, CDH23 (N1098S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 45914	NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile)	C10orf105, CDH23 (V1111I)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 739859	NM_022124.6(CDH23):c.3352G>A (p.Gly1118Ser)	C10orf105, CDH23 (G1118S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 45916	NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe)	C10orf105, CDH23 (I1121F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 45917	NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val)	C10orf105, CDH23 (L1122V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1311716	NM_022124.6(CDH23):c.3366G>T (p.Leu1122Phe)	C10orf105, CDH23 (L1122F)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3343710	NM_022124.6(CDH23):c.3369+6T>A	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1243422	NM_022124.6(CDH23):c.3369+58C>T	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1276189	NM_022124.6(CDH23):c.3369+123G>A	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1216863	NM_022124.6(CDH23):c.3369+269G>A	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 680503	NM_022124.6(CDH23):c.3369+298C>G	CDH23, C10orf105	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 680504	NM_022124.6(CDH23):c.3369+312C>T	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1274931	NM_022124.6(CDH23):c.3370-253C>T	CDH23, C10orf105	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280945	NM_022124.6(CDH23):c.3370-157C>T	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676346	NM_022124.6(CDH23):c.3370-46T>C	C10orf105, CDH23	Single nucleotide variant (intron variant)	Usher syndrome type 1D +2 more	GBenign
Select item 261547	NM_022124.6(CDH23):c.3370-29G>A	C10orf105, CDH23	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2467636	NM_022124.6(CDH23):c.3419G>A (p.Arg1140His)	C10orf105, CDH23 (R1140H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1177634	NM_022124.6(CDH23):c.3430+114T>C	C10orf105, CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GBenign
Select item 1246439	NM_022124.6(CDH23):c.3430+186T>C	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177635	NM_022124.6(CDH23):c.3431-205A>C	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1260528	NM_022124.6(CDH23):c.3431-189C>G	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177636	NM_022124.6(CDH23):c.3431-133T>C	C10orf105, CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GBenign/Likely benign
Select item 45919	NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile)	C10orf105, CDH23 (M1160I)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GConflicting classifications of pathogenicity
Select item 967886	NM_022124.6(CDH23):c.3482G>A (p.Arg1161Gln)	CDH23, C10orf105 (R1161Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 45923	NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile)	C10orf105, CDH23 (V1192I)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 504469	NM_022124.6(CDH23):c.3575_3576delinsGT (p.Val1192Gly)	C10orf105, CDH23 (V1192G)	Indel (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1230807	NM_022124.6(CDH23):c.3579+185C>T	LOC126860953, C10orf105 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234513	NM_022124.6(CDH23):c.3580-240A>G	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 178303	NM_022124.6(CDH23):c.3580-13C>T	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 45924	NM_022124.6(CDH23):c.3580-12C>T	C10orf105, CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign
Select item 1194608	NM_022124.6(CDH23):c.3580-11G>A	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2506668	NM_022124.6(CDH23):c.3607G>A (p.Asp1203Asn)	C10orf105, CDH23 (D1203N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1700851	NM_022124.6(CDH23):c.3608A>G (p.Asp1203Gly)	C10orf105, CDH23 (D1203G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1110918	NM_022124.6(CDH23):c.3618C>T (p.Pro1206=)	C10orf105, CDH23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 45925	NM_022124.6(CDH23):c.3619G>A (p.Val1207Met)	C10orf105, CDH23 (V1207M)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1D +3 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 1073637	NM_022124.6(CDH23):c.3655C>T (p.Arg1219Ter)	C10orf105, CDH23 (R1219*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 45927	NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr)	C10orf105, CDH23 (A1222T)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1D +3 more	GBenign/Likely benign
Select item 45929	NM_022124.6(CDH23):c.3706C>T (p.Arg1236Ter)	C10orf105, CDH23 (R1236*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 966785	NM_022124.6(CDH23):c.3707G>A (p.Arg1236Gln)	C10orf105, CDH23 (R1236Q)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1230238	NM_022124.6(CDH23):c.3715+320G>A	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
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 426618	NM_022124.6(CDH23):c.3764A>T (p.Lys1255Met)	C10orf105, CDH23 (K1255M)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2153868	NM_022124.6(CDH23):c.3778G>A (p.Glu1260Lys)	C10orf105, CDH23 (E1260K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 45930	NM_022124.6(CDH23):c.3801C>T (p.Thr1267=)	C10orf105, CDH23	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GConflicting classifications of pathogenicity
Select item 1214943	NM_022124.6(CDH23):c.3820G>A (p.Glu1274Lys)	C10orf105, CDH23 (E1274K)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 1310817	NM_022124.6(CDH23):c.3842T>C (p.Met1281Thr)	C10orf105, CDH23 (M1281T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 45931	NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser)	C10orf105, CDH23 (N1282S)	Single nucleotide variant (missense variant +1 more)	Meniere disease +4 more	GConflicting classifications of pathogenicity
Select item 284543	NM_022124.6(CDH23):c.3852G>A (p.Ser1284=)	CDH23, C10orf105	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GConflicting classifications of pathogenicity
Select item 162909	NM_022124.6(CDH23):c.3869C>T (p.Pro1290Leu)	CDH23, C10orf105 (P1290L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 45932	NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile)	C10orf105, CDH23 (V1299I)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GConflicting classifications of pathogenicity
Select item 595710	NM_022124.6(CDH23):c.3916G>C (p.Glu1306Gln)	C10orf105, CDH23 (E1306Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 596473	NM_022124.6(CDH23):c.3927G>A (p.Glu1309=)	C10orf105, CDH23	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1102672	NM_022124.6(CDH23):c.3954C>T (p.Tyr1318=)	C10orf105, CDH23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 45935	NM_022124.6(CDH23):c.3999G>A (p.Val1333=)	C10orf105, CDH23	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 4923	NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)	C10orf105, CDH23 (D1341N)	Single nucleotide variant (missense variant +1 more)	Usher syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1707039	NM_022124.6(CDH23):c.4025A>G (p.Asn1342Ser)	C10orf105, CDH23 (N1342S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 857597	NM_022124.6(CDH23):c.4040C>T (p.Thr1347Met)	C10orf105, CDH23 (T1347M)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 45936	NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys)	C10orf105, CDH23 (R1349C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2575872	NM_022124.6(CDH23):c.4051_4053delinsGAT (p.Asn1351Asp)	C10orf105, CDH23 (N1351D)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 45937	NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp)	C10orf105, CDH23 (N1351D)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign
Select item 45938	NM_022124.6(CDH23):c.4068C>G (p.Thr1356=)	C10orf105, CDH23	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 1D +3 more	GConflicting classifications of pathogenicity
Select item 730126	NM_022124.6(CDH23):c.4095C>T (p.Asp1365=)	C10orf105, CDH23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1223886	NM_022124.6(CDH23):c.4105-183G>C	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286953	NM_022124.6(CDH23):c.4105-160C>T	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 725154	NM_022124.6(CDH23):c.4146C>T (p.Gly1382=)	CDH23, C10orf105	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 178602	NM_022124.6(CDH23):c.4203C>T (p.Thr1401=)	C10orf105, CDH23	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GConflicting classifications of pathogenicity
Select item 670326	NM_022124.6(CDH23):c.4206+61T>A	C10orf105, CDH23	Single nucleotide variant (intron variant)	Usher syndrome type 1D +2 more	GBenign
Select item 678773	NM_022124.6(CDH23):c.4206+131T>C	C10orf105, CDH23	Single nucleotide variant (intron variant)	Pituitary adenoma 5, multiple types +3 more	GBenign
Select item 1250770	NM_022124.6(CDH23):c.4207-125G>A	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 136701	NM_022124.6(CDH23):c.4207-18T>C	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1269306	NM_022124.6(CDH23):c.4209+99G>A	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188103	NM_022124.6(CDH23):c.4209+126G>A	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209200	NM_022124.6(CDH23):c.4209+334G>A	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 84