ClinVar for MedGen (Select 1627153) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705929	NM_001145026.2(PTPRQ):c.5893C>A (p.Leu1965Met)	PTPRQ (L1965M)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 73	GUncertain significance
Select item 1679944	NM_001145026.2(PTPRQ):c.6299T>G (p.Met2100Arg)	PTPRQ (M2100R)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 73	GUncertain significance
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 1285598	NM_001145026.2(PTPRQ):c.5606A>G (p.Gln1869Arg)	PTPRQ (Q1869R)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 73	GUncertain significance
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 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 1184601	NM_001145026.2(PTPRQ):c.6024+2T>C	PTPRQ	Single nucleotide variant (splice donor variant)	Hearing loss, autosomal dominant 73	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 982616	NM_001145026.2(PTPRQ):c.3G>A (p.Met1Ile)	PTPRQ (M1I)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal dominant 73	GLikely pathogenic
Select item 805264	NM_001145026.2(PTPRQ):c.5061T>C (p.Pro1687=)	PTPRQ	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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)	not provided +2 more	GBenign/Likely benign
Select item 548548	NM_001145026.2(PTPRQ):c.386T>G (p.Ile129Ser)	PTPRQ (I129S)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 73	GUncertain significance
Select item 438482	NM_001145026.2(PTPRQ):c.6881G>A (p.Trp2294Ter)	PTPRQ (W2294*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal dominant 73 +1 more	GConflicting classifications of pathogenicity
Select item 423816	NM_001145026.2(PTPRQ):c.6586A>G (p.Met2196Val)	PTPRQ (M2196V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84A +3 more	GConflicting classifications of pathogenicity

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Items: 22