ClinVar for MedGen (Select 462004) - ClinVar

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Items: 30

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25011091.	NM_001145026.2(PTPRQ):c.3022A>T (p.Asn1008Tyr) GRCh37: Chr12:80933591 GRCh38: Chr12:80539812	PTPRQ	N1008Y	Autosomal recessive nonsyndromic hearing loss 84A	Likely pathogenic (Mar 1, 2023)	criteria provided, single submitter
Select item 24310602.	NM_001145026.2(PTPRQ):c.3308_3309del (p.Leu1103fs) GRCh37: Chr12:80935487-80935488 GRCh38: Chr12:80541708-80541709	PTPRQ	L1103fs	Autosomal recessive nonsyndromic hearing loss 84A	Likely pathogenic (Mar 1, 2023)	criteria provided, single submitter
Select item 17995343.	NM_001145026.2(PTPRQ):c.2726del (p.Glu909fs) GRCh37: Chr12:80927841 GRCh38: Chr12:80534062	PTPRQ	E909fs	Autosomal recessive nonsyndromic hearing loss 84A	Pathogenic (Nov 10, 2022)	criteria provided, single submitter
Select item 17995334.	NM_001145026.2(PTPRQ):c.1291C>T (p.Arg431Ter) GRCh37: Chr12:80878316 GRCh38: Chr12:80484537	PTPRQ	R431*	Autosomal recessive nonsyndromic hearing loss 84A	Likely pathogenic (Nov 10, 2022)	criteria provided, single submitter
Select item 12896545.	NM_001145026.2(PTPRQ):c.1187-27dup GRCh37: Chr12:80878181-80878182 GRCh38: Chr12:80484402-80484403	PTPRQ		Hearing loss, autosomal dominant 73, Autosomal recessive nonsyndromic hearing loss 84A, not provided	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12784096.	NM_001145026.2(PTPRQ):c.6453+21C>T GRCh37: Chr12:81063264 GRCh38: Chr12:80669485	PTPRQ		Hearing loss, autosomal dominant 73, not provided, Autosomal recessive nonsyndromic hearing loss 84A	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12779897.	NM_001145026.2(PTPRQ):c.1187-38T>A GRCh37: Chr12:80878174 GRCh38: Chr12:80484395	PTPRQ		Hearing loss, autosomal dominant 73, not provided, Autosomal recessive nonsyndromic hearing loss 84A	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12671608.	NM_001145026.2(PTPRQ):c.3155-34A>T GRCh37: Chr12:80935300 GRCh38: Chr12:80541521	PTPRQ		Autosomal recessive nonsyndromic hearing loss 84A, Hearing loss, autosomal dominant 73, not provided	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12456509.	NM_001145026.2(PTPRQ):c.5943-6T>C GRCh37: Chr12:81043361 GRCh38: Chr12:80649582	PTPRQ		Autosomal recessive nonsyndromic hearing loss 84A, not provided, Hearing loss, autosomal dominant 73	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 124357710.	NM_001145026.2(PTPRQ):c.1882+16TTG[7] GRCh37: Chr12:80889165-80889166 GRCh38: Chr12:80495386-80495387	PTPRQ		not provided, Hearing loss, autosomal dominant 73, Autosomal recessive nonsyndromic hearing loss 84A	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 120646911.	NM_001145026.2(PTPRQ):c.3607T>C (p.Tyr1203His) GRCh37: Chr12:80936029 GRCh38: Chr12:80542250	PTPRQ	Y1203H	not provided, Autosomal recessive nonsyndromic hearing loss 84A, Hearing loss, autosomal dominant 73	Likely benign (Sep 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118513412.	NM_001145026.2(PTPRQ):c.6603-3T>G GRCh37: Chr12:81066945 GRCh38: Chr12:80673166	PTPRQ		not provided	Uncertain significance (Feb 6, 2023)	criteria provided, single submitter
Select item 118512013.	NM_001145026.2(PTPRQ):c.6113C>T (p.Pro2038Leu) GRCh37: Chr12:81046611 GRCh38: Chr12:80652832	PTPRQ	P2038L	Autosomal recessive nonsyndromic hearing loss 84A	Uncertain significance (Jul 1, 2021)	no assertion criteria provided
Select item 118511414.	NM_001145026.2(PTPRQ):c.6526G>A (p.Ala2176Thr) GRCh37: Chr12:81064195 GRCh38: Chr12:80670416	PTPRQ	A2176T	not provided	Likely benign (Aug 26, 2020)	criteria provided, single submitter
Select item 118510315.	NM_001145026.2(PTPRQ):c.6602G>A (p.Ser2201Asn) GRCh37: Chr12:81064271 GRCh38: Chr12:80670492	PTPRQ	S2201N	Autosomal recessive nonsyndromic hearing loss 84A	Uncertain significance (Jul 1, 2021)	no assertion criteria provided
Select item 118510216.	NM_001145026.2(PTPRQ):c.3873+5G>T GRCh37: Chr12:80936665 GRCh38: Chr12:80542886	PTPRQ		Autosomal recessive nonsyndromic hearing loss 84A	Uncertain significance (Jul 1, 2021)	no assertion criteria provided
Select item 118505317.	NM_001145026.2(PTPRQ):c.6194_6453+1del GRCh37: Chr12:81062785-81063242 GRCh38: Chr12:80669006-80669463	PTPRQ		Autosomal recessive nonsyndromic hearing loss 84A	Likely pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 117866018.	NM_001145026.2(PTPRQ):c.6115+23_6115+24dup GRCh37: Chr12:81046635-81046636 GRCh38: Chr12:80652856-80652857	PTPRQ		Hearing loss, autosomal dominant 73, Autosomal recessive nonsyndromic hearing loss 84A, not provided	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117497419.	NM_001145026.2(PTPRQ):c.2505C>G (p.Leu835=) GRCh37: Chr12:80900397 GRCh38: Chr12:80506618	PTPRQ		Hearing loss, autosomal dominant 73, not provided, Autosomal recessive nonsyndromic hearing loss 84A	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117473720.	NM_001145026.2(PTPRQ):c.2371C>A (p.Gln791Lys) GRCh37: Chr12:80899901 GRCh38: Chr12:80506122	PTPRQ	Q791K	Hearing loss, autosomal dominant 73, not provided, Autosomal recessive nonsyndromic hearing loss 84A	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 97349321.	NM_001145026.2(PTPRQ):c.4006C>T (p.Gln1336Ter) GRCh37: Chr12:80940467 GRCh38: Chr12:80546688	PTPRQ	Q1336*	Autosomal recessive nonsyndromic hearing loss 84A	Pathogenic	criteria provided, single submitter
Select item 80526422.	NM_001145026.2(PTPRQ):c.5061T>C (p.Pro1687=) GRCh37: Chr12:81007513 GRCh38: Chr12:80613734	PTPRQ		Hearing loss, autosomal dominant 73, Autosomal recessive nonsyndromic hearing loss 84A, not provided	Benign/Likely benign (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80287423.	NM_001145026.2(PTPRQ):c.6452_6453+2del GRCh37: Chr12:81063242-81063245 GRCh38: Chr12:80669463-80669466	PTPRQ		Autosomal recessive nonsyndromic hearing loss 84A	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 68257024.	NM_001145026.2(PTPRQ):c.2272+15_2272+16insG GRCh37: Chr12:80890325-80890326 GRCh38: Chr12:80496546-80496547	PTPRQ		Hearing loss, autosomal dominant 73, Autosomal recessive nonsyndromic hearing loss 84A, not provided	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 68256925.	NM_001145026.2(PTPRQ):c.1934T>A (p.Val645Asp) GRCh37: Chr12:80889829 GRCh38: Chr12:80496050	PTPRQ	V645D	Autosomal recessive nonsyndromic hearing loss 84A, Hearing loss, autosomal dominant 73, not provided	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67876426.	NM_001145026.2(PTPRQ):c.1233G>A (p.Thr411=) GRCh37: Chr12:80878258 GRCh38: Chr12:80484479	PTPRQ		Hearing loss, autosomal dominant 73, Autosomal recessive nonsyndromic hearing loss 84A, not provided	Benign/Likely benign (Sep 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 58530627.	NM_022124.6(CDH23):c.4210-2A>G GRCh37: Chr10:73498253 GRCh38: Chr10:71738496	CDH23		Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 84A, not provided	Pathogenic/Likely pathogenic (Nov 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42381628.	NM_001145026.2(PTPRQ):c.6586A>G (p.Met2196Val) GRCh37: Chr12:81064255 GRCh38: Chr12:80670476	PTPRQ	M2196V	not provided, Autosomal recessive nonsyndromic hearing loss 84A, Hearing loss, autosomal dominant 73	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 15633329.	NM_001145026.2(PTPRQ):c.837T>A (p.Tyr279Ter) GRCh37: Chr12:80849348 GRCh38: Chr12:80460829	PTPRQ	Y279*	Autosomal recessive nonsyndromic hearing loss 84A	Pathogenic (Apr 9, 2010)	no assertion criteria provided
Select item 15633230.	NM_001145026.2(PTPRQ):c.715A>G (p.Arg239Gly) GRCh37: Chr12:80849470 GRCh38: Chr12:80460707	PTPRQ	R239G	Autosomal recessive nonsyndromic hearing loss 84A	Pathogenic (Apr 9, 2010)	no assertion criteria provided

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Items: 30