ClinVar for MedGen (Select 387899) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234990	NM_001042702.5(PJVK):c.240T>A (p.Tyr80Ter)	PJVK (Y115* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 59	GLikely pathogenic
Select item 3065609	NM_001042702.5(PJVK):c.505T>A (p.Cys169Ser)	PJVK (C10S +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 59	GUncertain significance
Select item 2734336	NM_001042702.5(PJVK):c.274C>T (p.Arg92Ter)	PJVK (R127* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 2720001	NM_001042702.5(PJVK):c.1028G>C (p.Cys343Ser)	PJVK (C343S +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 59 +1 more	GPathogenic
Select item 2628078	NM_001042702.5(PJVK):c.370G>A (p.Val124Met)	PJVK (V124M +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 59	GUncertain significance
Select item 1329507	NM_001042702.5(PJVK):c.950del (p.Phe317fs)	PJVK (F158fs +3 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 59	GPathogenic
Select item 1329506	NM_001042702.5(PJVK):c.880C>G (p.His294Asp)	PJVK (H135D +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 59	GPathogenic
Select item 1329505	NM_001042702.5(PJVK):c.880del (p.His294fs)	PJVK (H135fs +3 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 59	GPathogenic
Select item 1329504	NM_001042702.5(PJVK):c.671T>G (p.Leu224Arg)	PJVK (L224R +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 59	GPathogenic
Select item 1299236	NM_001042702.5(PJVK):c.946A>C (p.Asn316His)	PJVK (N157H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1185642	NM_001042702.5(PJVK):c.880C>A (p.His294Asn)	PJVK (H135N +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 59	GUncertain significance
Select item 894510	NM_001042702.5(PJVK):c.525T>G (p.Ala175=)	PJVK	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 59	GUncertain significance
Select item 894509	NM_001042702.5(PJVK):c.450C>T (p.Ser150=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 59	GUncertain significance
Select item 894114	NM_001042702.5(PJVK):c.297C>T (p.Asp99=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 894113	NM_001042702.5(PJVK):c.216T>C (p.Ile72=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 59 +1 more	GConflicting classifications of pathogenicity
Select item 893090	NM_001042702.5(PJVK):c.*20G>A	PJVK	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 59	GUncertain significance
Select item 893089	NM_001042702.5(PJVK):c.887G>C (p.Arg296Pro)	PJVK (R299P +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 59	GUncertain significance
Select item 893044	NM_001042702.5(PJVK):c.-84C>T	PJVK	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 59	GUncertain significance
Select item 893043	NM_001042702.5(PJVK):c.-232A>G	PJVK	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 59	GUncertain significance
Select item 562095	NM_001042702.5(PJVK):c.905ACA[1] (p.Asn303del)	PJVK (N303del +3 more)	Microsatellite (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 59 +1 more	GPathogenic/Likely pathogenic
Select item 560905	NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter)	PJVK (R136* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 499356	NM_001042702.5(PJVK):c.548G>A (p.Arg183Gln)	PJVK (R183Q +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 369319	NM_001042702.5(PJVK):c.-28C>G	PJVK, PRKRA	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GLikely benign
Select item 332661	NM_001042702.5(PJVK):c.778A>G (p.Met260Val)	PJVK (M260V +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 59 +1 more	GConflicting classifications of pathogenicity
Select item 332660	NM_001042702.5(PJVK):c.753C>A (p.Ile251=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 59	GUncertain significance
Select item 332659	NM_001042702.5(PJVK):c.298G>A (p.Val100Ile)	PJVK (V100I +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 59 +2 more	GUncertain significance
Select item 332658	NM_001042702.5(PJVK):c.-22-6T>A	PJVK	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 332657	NM_001042702.5(PJVK):c.-45T>A	PJVK	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 59 +1 more	GUncertain significance
Select item 332656	NM_001042702.5(PJVK):c.-49G>T	PJVK	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 59	GUncertain significance
Select item 332655	NM_001042702.5(PJVK):c.-64C>T	PJVK	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 59	GUncertain significance
Select item 332654	NM_001042702.5(PJVK):c.-73C>T	PJVK	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 332653	NM_001042702.5(PJVK):c.-82C>T	PJVK	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 59	GUncertain significance
Select item 332652	NM_001042702.5(PJVK):c.-112G>T	PJVK	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 59	GUncertain significance
Select item 332651	NM_001042702.5(PJVK):c.-124G>A	PJVK	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 59	GUncertain significance
Select item 332650	NM_001042702.5(PJVK):c.-201C>G	PJVK	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 59	GUncertain significance
Select item 332649	NM_001042702.5(PJVK):c.-234C>T	PJVK	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 59	GUncertain significance
Select item 332648	NM_001042702.5(PJVK):c.-263G>A	PJVK	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 59 +2 more	GUncertain significance
Select item 332647	NM_001042702.5(PJVK):c.-283C>G	PJVK	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 59	GUncertain significance
Select item 332646	NM_001042702.5(PJVK):c.-303G>A	PJVK	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 59 +2 more	GUncertain significance
Select item 290802	NM_001042702.5(PJVK):c.250T>A (p.Ser84Thr)	PJVK (S84T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 288934	NM_001042702.5(PJVK):c.794G>A (p.Arg265His)	PJVK (R265H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 226561	NM_001042702.5(PJVK):c.*2A>C	PJVK	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 178339	NM_001042702.5(PJVK):c.766+8T>C	PJVK	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 163062	NM_001042702.5(PJVK):c.405A>C (p.Thr135=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 163061	NM_001042702.5(PJVK):c.212-12C>A	PJVK	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 43873	NM_001042702.5(PJVK):c.874G>A (p.Gly292Arg)	PJVK (G292R +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 59 +2 more	GBenign/Likely benign
Select item 43872	NM_001042702.5(PJVK):c.86A>G (p.Asp29Gly)	PJVK (D29G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 43871	NM_001042702.5(PJVK):c.793C>T (p.Arg265Cys)	PJVK (R265C +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 59 +2 more	GConflicting classifications of pathogenicity
Select item 43870	NM_001042702.5(PJVK):c.793C>G (p.Arg265Gly)	PJVK (R265G +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 43868	NM_001042702.5(PJVK):c.437G>A (p.Arg146His)	PJVK (R146H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1303	NM_001042702.5(PJVK):c.122del (p.Lys41fs)	PJVK (K41fs +2 more)	Deletion (frameshift variant +2 more)	Autosomal recessive nonsyndromic hearing loss 59	GPathogenic
Select item 1302	NM_001042702.5(PJVK):c.988del (p.Val330fs)	PJVK (V171fs +3 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 59	GPathogenic
Select item 1301	NM_001042702.5(PJVK):c.726del (p.Phe242fs)	PJVK (F83fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 59	GPathogenic
Select item 1300	NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter)	PJVK (R167* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1299	NM_001042702.5(PJVK):c.113dup (p.Lys41fs)	PJVK (K44fs +2 more)	Duplication (frameshift variant +2 more)	Autosomal recessive nonsyndromic hearing loss 59	GPathogenic
Select item 1298	NM_001042702.5(PJVK):c.161C>T (p.Thr54Ile)	PJVK (T54I +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 59	GPathogenic
Select item 1297	NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp)	PJVK (R183W +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

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Items: 57