ClinVar for MedGen (Select 462004) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582600	NM_001145026.2(PTPRQ):c.2621C>A (p.Ser874Ter)	PTPRQ (S874*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 84A	GLikely pathogenic
Select item 2507417	NM_001145026.2(PTPRQ):c.4534_4536dup (p.Phe1512_Gln1513insPhe)	PTPRQ	Duplication (inframe_insertion)	Autosomal recessive nonsyndromic hearing loss 84A	GUncertain significance
Select item 2501109	NM_001145026.2(PTPRQ):c.3022A>T (p.Asn1008Tyr)	PTPRQ (N1008Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84A	GLikely pathogenic
Select item 2431060	NM_001145026.2(PTPRQ):c.3308_3309del (p.Leu1103fs)	PTPRQ (L1103fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 84A	GLikely pathogenic
Select item 1799534	NM_001145026.2(PTPRQ):c.2726del (p.Glu909fs)	PTPRQ (E909fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 84A	GPathogenic
Select item 1799533	NM_001145026.2(PTPRQ):c.1291C>T (p.Arg431Ter)	PTPRQ (R431*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 84A	GLikely pathogenic
Select item 1289654	NM_001145026.2(PTPRQ):c.1187-27dup	PTPRQ	Duplication (intron variant)	Autosomal recessive nonsyndromic hearing loss 84A +2 more	GBenign
Select item 1278409	NM_001145026.2(PTPRQ):c.6453+21C>T	PTPRQ	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1277989	NM_001145026.2(PTPRQ):c.1187-38T>A	PTPRQ	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1267160	NM_001145026.2(PTPRQ):c.3155-34A>T	PTPRQ	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1245650	NM_001145026.2(PTPRQ):c.5943-6T>C	PTPRQ	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 84A +2 more	GBenign
Select item 1243577	NM_001145026.2(PTPRQ):c.1882+16TTG[7]	PTPRQ	Microsatellite (intron variant)	Autosomal recessive nonsyndromic hearing loss 84A +2 more	GBenign
Select item 1219883	NM_001145026.2(PTPRQ):c.6568G>T (p.Ala2190Ser)	PTPRQ (A2190S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1206469	NM_001145026.2(PTPRQ):c.3607T>C (p.Tyr1203His)	PTPRQ (Y1203H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84A +2 more	GLikely benign
Select item 1193019	NM_001145026.2(PTPRQ):c.1847A>G (p.Gln616Arg)	PTPRQ (Q616R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1185134	NM_001145026.2(PTPRQ):c.6603-3T>G	PTPRQ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1185120	NM_001145026.2(PTPRQ):c.6113C>T (p.Pro2038Leu)	PTPRQ (P2038L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84A	GUncertain significance
Select item 1185114	NM_001145026.2(PTPRQ):c.6526G>A (p.Ala2176Thr)	PTPRQ (A2176T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1185103	NM_001145026.2(PTPRQ):c.6602G>A (p.Ser2201Asn)	PTPRQ (S2201N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84A	GUncertain significance
Select item 1185102	NM_001145026.2(PTPRQ):c.3873+5G>T	PTPRQ	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 84A	GUncertain significance
Select item 1185053	NM_001145026.2(PTPRQ):c.6194_6453+1del	PTPRQ	Deletion (splice acceptor variant +1 more)	Autosomal recessive nonsyndromic hearing loss 84A	GLikely pathogenic
Select item 1178660	NM_001145026.2(PTPRQ):c.6115+23_6115+24dup	PTPRQ	Duplication (intron variant)	Autosomal recessive nonsyndromic hearing loss 84A +2 more	GBenign
Select item 1174974	NM_001145026.2(PTPRQ):c.2505C>G (p.Leu835=)	PTPRQ	Single nucleotide variant (synonymous variant)	Hearing loss, autosomal dominant 73 +2 more	GBenign
Select item 1174737	NM_001145026.2(PTPRQ):c.2371C>A (p.Gln791Lys)	PTPRQ (Q791K)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 73 +2 more	GBenign
Select item 973493	NM_001145026.2(PTPRQ):c.4006C>T (p.Gln1336Ter)	PTPRQ (Q1336*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 84A	GPathogenic
Select item 805264	NM_001145026.2(PTPRQ):c.5061T>C (p.Pro1687=)	PTPRQ	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 84A +2 more	GBenign/Likely benign
Select item 802874	NM_001145026.2(PTPRQ):c.6452_6453+2del	PTPRQ	Deletion (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 84A	GUncertain significance
Select item 682570	NM_001145026.2(PTPRQ):c.2272+15_2272+16insG	PTPRQ	Insertion (intron variant)	Autosomal recessive nonsyndromic hearing loss 84A +2 more	GBenign
Select item 682569	NM_001145026.2(PTPRQ):c.1934T>A (p.Val645Asp)	PTPRQ (V645D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84A +2 more	GBenign
Select item 678764	NM_001145026.2(PTPRQ):c.1233G>A (p.Thr411=)	PTPRQ	Single nucleotide variant (synonymous variant)	Hearing loss, autosomal dominant 73 +2 more	GBenign/Likely benign
Select item 585306	NM_022124.6(CDH23):c.4210-2A>G	CDH23	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1D +3 more	GPathogenic/Likely pathogenic
Select item 423816	NM_001145026.2(PTPRQ):c.6586A>G (p.Met2196Val)	PTPRQ (M2196V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 156333	NM_001145026.2(PTPRQ):c.837T>A (p.Tyr279Ter)	PTPRQ (Y279*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 84A	GPathogenic
Select item 156332	NM_001145026.2(PTPRQ):c.715A>G (p.Arg239Gly)	PTPRQ (R239G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84A	GPathogenic

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Items: 34