C10orf105[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC126860963, LOC126860964 +1008 more	Copy number gain	See cases	GPathogenic
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 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	ADAMTS14, ADK +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	ADAMTS14, ADK +580 more	Copy number gain	See cases	GPathogenic
Select item 2779192	NM_001164375.3(C10orf105):c.*3291A>T	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1089791	NM_001164375.3(C10orf105):c.*3280G>A	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2031216	NM_001164375.3(C10orf105):c.*3278G>C	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 798951	NM_001164375.3(C10orf105):c.*3278G>A	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1446664	NM_001164375.3(C10orf105):c.*3275T>A	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 595857	NM_022124.6(CDH23):c.3221-2A>G	CDH23, C10orf105	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2750893	NM_022124.6(CDH23):c.3222C>T (p.Asp1074=)	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1124557	NM_022124.6(CDH23):c.3225C>T (p.Asn1075=)	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2188393	NM_022124.6(CDH23):c.3226G>A (p.Gly1076Ser)	C10orf105, CDH23 (G1076S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1013285	NM_022124.6(CDH23):c.3226G>C (p.Gly1076Arg)	C10orf105, CDH23 (G1076R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1591215	NM_022124.6(CDH23):c.3228C>A (p.Gly1076=)	C10orf105, CDH23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1119614	NM_022124.6(CDH23):c.3228C>G (p.Gly1076=)	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2104316	NM_022124.6(CDH23):c.3230C>G (p.Pro1077Arg)	C10orf105, CDH23 (P1077R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
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 provided +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 1524508	NM_022124.6(CDH23):c.3232G>C (p.Val1078Leu)	C10orf105, CDH23 (V1078L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1119239	NM_022124.6(CDH23):c.3240G>A (p.Lys1080=)	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)	not provided +2 more	GPathogenic
Select item 842718	NM_022124.6(CDH23):c.3242G>A (p.Arg1081Gln)	C10orf105, CDH23 (R1081Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2836626	NM_022124.6(CDH23):c.3243A>C (p.Arg1081=)	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1501251	NM_022124.6(CDH23):c.3248C>G (p.Thr1083Arg)	C10orf105, CDH23 (T1083R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 843647	NM_022124.6(CDH23):c.3248C>T (p.Thr1083Met)	C10orf105, CDH23 (T1083M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 45911	NM_022124.6(CDH23):c.3249G>A (p.Thr1083=)	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 420498	NM_022124.6(CDH23):c.3250G>T (p.Gly1084Cys)	C10orf105, CDH23 (G1084C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1945691	NM_022124.6(CDH23):c.3251G>A (p.Gly1084Asp)	C10orf105, CDH23 (G1084D)	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 1550531	NM_022124.6(CDH23):c.3261C>G (p.Thr1087=)	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1082831	NM_022124.6(CDH23):c.3261C>T (p.Thr1087=)	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 45912	NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)	C10orf105, CDH23 (V1088M)	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 12 +6 more	GConflicting classifications of pathogenicity
Select item 1353534	NM_022124.6(CDH23):c.3266T>C (p.Phe1089Ser)	C10orf105, CDH23 (F1089S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1143293	NM_022124.6(CDH23):c.3267C>T (p.Phe1089=)	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2996152	NM_022124.6(CDH23):c.3282T>C (p.Asp1094=)	C10orf105, CDH23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1089681	NM_022124.6(CDH23):c.3285G>T (p.Val1095=)	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 794166	NM_022124.6(CDH23):c.3285G>C (p.Val1095=)	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	CDH23-related condition +1 more	GLikely benign
Select item 2680451	NM_022124.6(CDH23):c.3292_3295dup (p.Arg1099fs)	C10orf105, CDH23 (R1099fs)	Duplication (3 prime UTR variant +1 more)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 45913	NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser)	C10orf105, CDH23 (N1098S)	Single nucleotide variant (3 prime UTR variant +1 more)	CDH23-related condition +3 more	GBenign/Likely benign
Select item 1445882	NM_022124.6(CDH23):c.3295C>T (p.Arg1099Trp)	C10orf105, CDH23 (R1099W)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1417433	NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln)	C10orf105, CDH23 (R1099Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Pituitary adenoma 5, multiple types +3 more	GUncertain significance
Select item 228490	NM_022124.6(CDH23):c.3299C>T (p.Pro1100Leu)	C10orf105, CDH23 (P1100L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 166812	NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val)	CDH23, C10orf105 (I1101V)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 666804	NM_022124.6(CDH23):c.3305T>A (p.Phe1102Tyr)	C10orf105, CDH23 (F1102Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1106484	NM_022124.6(CDH23):c.3318C>T (p.Ser1106=)	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2819985	NM_022124.6(CDH23):c.3321T>A (p.Tyr1107Ter)	C10orf105, CDH23 (Y1107*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1089684	NM_022124.6(CDH23):c.3324G>A (p.Glu1108=)	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 179203	NM_022124.6(CDH23):c.3326C>T (p.Ala1109Val)	C10orf105, CDH23 (A1109V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1926770	NM_022124.6(CDH23):c.3327C>T (p.Ala1109=)	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 228492	NM_022124.6(CDH23):c.3328A>G (p.Ser1110Gly)	C10orf105, CDH23 (S1110G)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 1119847	NM_022124.6(CDH23):c.3330C>T (p.Ser1110=)	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 989823	NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg)	C10orf105, CDH23 (S1110R)	Single nucleotide variant (3 prime UTR variant +1 more)	Pituitary adenoma 5, multiple types +3 more	GConflicting classifications of pathogenicity
Select item 636161	NM_022124.6(CDH23):c.3331G>T (p.Val1111Phe)	C10orf105, CDH23 (V1111F)	Single nucleotide variant (3 prime UTR variant +1 more)	Vitreoretinopathy	GUncertain significance
Select item 45914	NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile)	C10orf105, CDH23 (V1111I)	Single nucleotide variant (3 prime UTR variant +1 more)	CDH23-Related Disorders +5 more	GConflicting classifications of pathogenicity
Select item 45915	NM_022124.6(CDH23):c.3337G>C (p.Glu1113Gln)	CDH23, C10orf105 (E1113Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1133498	NM_022124.6(CDH23):c.3339G>A (p.Glu1113=)	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 795302	NM_022124.6(CDH23):c.3342C>T (p.Asp1114=)	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2828404	NM_022124.6(CDH23):c.3345C>T (p.Ile1115=)	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1474175	NM_022124.6(CDH23):c.3347C>T (p.Pro1116Leu)	C10orf105, CDH23 (P1116L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 989824	NM_022124.6(CDH23):c.3351A>G (p.Glu1117=)	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1185587	NM_022124.6(CDH23):c.3353del (p.Gly1118fs)	CDH23, C10orf105 (G1118fs)	Deletion (3 prime UTR variant +1 more)	Usher syndrome type 1D	GPathogenic
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 2167747	NM_022124.6(CDH23):c.3353G>T (p.Gly1118Val)	C10orf105, CDH23 (G1118V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 45916	NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe)	CDH23, C10orf105 (I1121F)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1722214	NM_022124.6(CDH23):c.3362T>A (p.Ile1121Asn)	C10orf105, CDH23 (I1121N)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
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)	not provided	GUncertain significance
Select item 1906272	NM_022124.6(CDH23):c.3369+9_3369+31dup	CDH23, C10orf105	Duplication (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 865909	NM_022124.6(CDH23):c.3369+1G>A	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 1112508	NM_001164375.3(C10orf105):c.*3112G>A	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 300424	NM_001164375.3(C10orf105):c.*3111C>T	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 2833404	NM_001164375.3(C10orf105):c.*3104G>C	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1243422	NM_001164375.3(C10orf105):c.*3065G>A	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1276189	NM_001164375.3(C10orf105):c.*3000C>T	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1216863	NM_001164375.3(C10orf105):c.*2854C>T	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 680503	NM_001164375.3(C10orf105):c.*2825G>C	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 680504	NM_001164375.3(C10orf105):c.*2811G>A	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2640571	NM_001164375.3(C10orf105):c.*490C>T	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2226696	NM_001164375.3(C10orf105):c.170C>T (p.Thr57Met)	C10orf105, CDH23 (T57M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2640572	NM_001164375.3(C10orf105):c.78C>T (p.Pro26=)	C10orf105, CDH23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GBenign
Select item 261547	NM_022124.6(CDH23):c.3370-29G>A	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3023845	NM_022124.6(CDH23):c.3370-20C>G	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901566	NM_022124.6(CDH23):c.3370-20C>T	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1530500	NM_022124.6(CDH23):c.3370-19G>A	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914392	NM_022124.6(CDH23):c.3370-18T>C	CDH23, C10orf105	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1570272	NM_022124.6(CDH23):c.3370-15C>T	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1621814	NM_022124.6(CDH23):c.3370-12A>G	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793828	NM_022124.6(CDH23):c.3370-9C>T	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663984	NM_022124.6(CDH23):c.3370-5C>T	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185615	NM_022124.6(CDH23):c.3371T>G (p.Leu1124Arg)	C10orf105, CDH23 (L1124R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 1378730	NM_022124.6(CDH23):c.3375del (p.Ala1126fs)	C10orf105, CDH23 (A1126fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1097818	NM_022124.6(CDH23):c.3381G>A (p.Thr1127=)	C10orf105, CDH23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 754628	NM_022124.6(CDH23):c.3381G>T (p.Thr1127=)	C10orf105, CDH23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1133198	NM_022124.6(CDH23):c.3384C>T (p.Asp1128=)	C10orf105, CDH23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1713929	NM_022124.6(CDH23):c.3388G>A (p.Asp1130Asn)	C10orf105, CDH23 (D1130N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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