ClinVar for Gene (Select 64115) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3189140	NM_022153.2(VSIR):c.86C>T (p.Pro29Leu)	CDH23, VSIR (P29L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3189139	NM_022153.2(VSIR):c.637C>T (p.Leu213Phe)	CDH23, VSIR (L213F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189138	NM_022153.2(VSIR):c.494A>C (p.Glu165Ala)	CDH23, VSIR (E165A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189137	NM_022153.2(VSIR):c.336C>A (p.Asp112Glu)	CDH23, VSIR (D112E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189136	NM_022153.2(VSIR):c.232G>A (p.Gly78Ser)	CDH23, VSIR (G78S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685381	GRCh37/hg19 10q22.1(chr10:73321269-74612651)x1	ANAPC16, ASCC1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2426729	NC_000010.10:g.(?_73464648)_(73768229_?)dup	C10orf105, CDH23 +3 more	Duplication	not provided	GUncertain significance
Select item 2424542	NC_000010.10:g.(?_73499381)_(73862745_?)dup	ASCC1, CDH23 +4 more	Duplication	Sphingolipid activator protein 1 deficiency	GUncertain significance
Select item 1684840	NM_022153.2(VSIR):c.839C>T (p.Ser280Leu)	CDH23, VSIR (S280L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 12 +4 more	GBenign/Likely benign
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1459529	NC_000010.10:g.(?_73381150)_(73553170_?)del	C10orf105, CDH23 +1 more	Deletion	not provided	GPathogenic
Select item 1443769	NC_000010.10:g.(?_73490206)_(73768229_?)dup	C10orf105, CDH23 +3 more	Duplication	not provided	GUncertain significance
Select item 931440	NM_022153.2(VSIR):c.694C>T (p.Arg232Trp)	CDH23, VSIR (R232W)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 802587	NM_022153.2(VSIR):c.20T>C (p.Leu7Pro)	CDH23, LOC130004038 +1 more (L7P)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa-deafness syndrome	GBenign
Select item 802586	NM_022153.2(VSIR):c.561T>G (p.Asp187Glu)	CDH23, VSIR (D187E)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa-deafness syndrome	GBenign
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563719	GRCh37/hg19 10q22.1(chr10:73321268-73554051)x1	VSIR, C10orf105 +1 more	Copy number loss	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 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 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 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 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

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Links from Gene

Items: 29