LOC105378311[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
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	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 148171	GRCh38/hg38 10q21.1(chr10:53051023-54726415)x1	LOC105378311, MIR548F1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 149395	GRCh38/hg38 10q21.1(chr10:53051046-54726547)x1	LOC105378311, MIR548F1 +1 more	Copy number loss	See cases	GPathogenic
Select item 150846	GRCh38/hg38 10q21.1(chr10:53308026-56420041)x3	LOC105378311, LOC126860936 +8 more	Copy number gain	See cases	GLikely benign
Select item 148078	GRCh38/hg38 10q21.1(chr10:53366596-56420041)x4	LOC105378311, LOC126860936 +8 more	Copy number gain	See cases	GUncertain significance
Select item 57887	GRCh38/hg38 10q21.1(chr10:53477144-54916701)x3	LOC105378311, MIR548F1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 438248	Single allele	LOC105378311, MIR548F1 +1 more	Deletion	Usher syndrome	GLikely pathogenic
Select item 58725	GRCh38/hg38 10q21.1(chr10:54287239-57268543)x1	LOC105378311, LOC126860936 +10 more	Copy number loss	See cases	GPathogenic
Select item 164883	NM_033056.3(PCDH15):c.(?_-15)_(876_?)del	LOC105378311, MIR548F1 +1 more	Deletion	Rare genetic deafness	GPathogenic
Select item 1321407	NM_001384140.1(PCDH15):c.157+41381G>C	PCDH15, LOC105378311	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2503840	NM_001384140.1(PCDH15):c.157+41373T>C	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1218969	NM_001384140.1(PCDH15):c.157+301G>A	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253647	NM_001384140.1(PCDH15):c.157+198A>C	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261924	NM_001384140.1(PCDH15):c.157+75G>A	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2816468	NM_001384140.1(PCDH15):c.157+20T>C	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2092695	NM_001384140.1(PCDH15):c.157+12T>G	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2113765	NM_001384140.1(PCDH15):c.157+9G>A	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1669272	NM_001384140.1(PCDH15):c.157+9G>T	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2069179	NM_001384140.1(PCDH15):c.157+7G>A	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1677308	NM_001384140.1(PCDH15):c.157+3_157+6del	LOC105378311, PCDH15	Deletion (splice donor variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23	GUncertain significance
Select item 46444	NM_001384140.1(PCDH15):c.157+3A>G	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	Usher syndrome type 1F +3 more	GBenign
Select item 370790	NM_001384140.1(PCDH15):c.157+1G>C	LOC105378311, PCDH15	Single nucleotide variant (splice donor variant +1 more)	Usher syndrome type 1F	GLikely pathogenic
Select item 1584555	NM_001384140.1(PCDH15):c.153G>T (p.Arg51=)	LOC105378311, PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1700995	NM_001384140.1(PCDH15):c.152G>A (p.Arg51Gln)	LOC105378311, PCDH15 (R51Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 546237	NM_001384140.1(PCDH15):c.149G>T (p.Ser50Ile)	LOC105378311, PCDH15 (S50I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 880274	NM_001384140.1(PCDH15):c.146A>G (p.Glu49Gly)	LOC105378311, PCDH15 (E49G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 554937	NM_001384140.1(PCDH15):c.145G>T (p.Glu49Ter)	LOC105378311, PCDH15 (E49* +1 more)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1F +2 more	GPathogenic/Likely pathogenic
Select item 1543070	NM_001384140.1(PCDH15):c.144A>G (p.Glu48=)	LOC105378311, PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 691400	NM_001384140.1(PCDH15):c.139G>A (p.Asp47Asn)	LOC105378311, PCDH15 (D47N +1 more)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 553924	NM_001384140.1(PCDH15):c.139del (p.Asp47fs)	LOC105378311, PCDH15 (D47fs +1 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 1F +1 more	GPathogenic/Likely pathogenic
Select item 450626	NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala)	LOC105378311, PCDH15 (V44A +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23 +2 more	GConflicting classifications of pathogenicity
Select item 3240051	NM_001384140.1(PCDH15):c.127_130del (p.Ile43fs)	LOC105378311, PCDH15 (I43fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23	GLikely pathogenic
Select item 229132	NM_001384140.1(PCDH15):c.128T>C (p.Ile43Thr)	LOC105378311, PCDH15 (I43T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2777020	NM_001384140.1(PCDH15):c.126C>T (p.Thr42=)	LOC105378311, PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1573233	NM_001384140.1(PCDH15):c.126C>A (p.Thr42=)	LOC105378311, PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2791931	NM_001384140.1(PCDH15):c.123T>C (p.Ala41=)	LOC105378311, PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2743226	NM_001384140.1(PCDH15):c.120A>G (p.Pro40=)	LOC105378311, PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971988	NM_001384140.1(PCDH15):c.117A>T (p.Pro39=)	LOC105378311, PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2112802	NM_001384140.1(PCDH15):c.111A>C (p.Gly37=)	LOC105378311, PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2707043	NM_001384140.1(PCDH15):c.110del (p.Gly37fs)	LOC105378311, PCDH15 (G37fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1666452	NM_001384140.1(PCDH15):c.108G>A (p.Arg36=)	LOC105378311, PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2004771	NM_001384140.1(PCDH15):c.96C>T (p.Cys32=)	LOC105378311, PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 797799	NM_001384140.1(PCDH15):c.93T>C (p.Asp31=)	LOC105378311, PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2730733	NM_001384140.1(PCDH15):c.92A>T (p.Asp31Val)	LOC105378311, PCDH15 (D31V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1669893	NM_001384140.1(PCDH15):c.92-7T>C	PCDH15, LOC105378311	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1108702	NM_001384140.1(PCDH15):c.92-8C>G	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1089021	NM_001384140.1(PCDH15):c.92-8C>T	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 504670	NM_001384140.1(PCDH15):c.92-10C>T	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1219971	NM_001384140.1(PCDH15):c.92-13T>C	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913193	NM_001384140.1(PCDH15):c.92-18G>A	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 993430	NM_001384140.1(PCDH15):c.92-18del	LOC105378311, PCDH15	Deletion (intron variant)	not provided	GLikely benign
Select item 2704505	NM_001384140.1(PCDH15):c.92-19G>A	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177592	NM_001384140.1(PCDH15):c.92-52T>G	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1193608	NM_001384140.1(PCDH15):c.92-131T>A	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298186	NM_001384140.1(PCDH15):c.92-165G>A	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206738	NM_001384140.1(PCDH15):c.92-178G>C	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264686	NM_001384140.1(PCDH15):c.92-444C>T	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197591	NM_001384140.1(PCDH15):c.92-483A>G	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 445899	NM_001384140.1(PCDH15):c.92-493A>T	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 793999	NM_001384140.1(PCDH15):c.92-501C>T	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 552740	NM_001384140.1(PCDH15):c.92-515T>G	LOC105378311, PCDH15 (Y34*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 932235	NM_001384140.1(PCDH15):c.92-528C>T	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	Usher syndrome type 1F	GUncertain significance
Select item 1188036	NM_001384140.1(PCDH15):c.92-816C>T	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 632934	NM_001384140.1(PCDH15):c.92-13796_92-13795insC	PCDH15, LOC105378311	Insertion (intron variant)	not specified	GBenign
Select item 3338139	NM_001384140.1(PCDH15):c.92-24483A>G	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance

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Items: 67