"GeneDx"[submitter] AND "PJVK"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 332633	NM_003690.5(PRKRA):c.32C>T (p.Pro11Leu)	PJVK, PRKRA (P11L)	Single nucleotide variant (5 prime UTR variant +1 more)	Dystonic disorder +3 more	GBenign/Likely benign
Select item 332634	NM_003690.5(PRKRA):c.22_23del (p.Ala8fs)	PJVK, PRKRA (A8fs)	Microsatellite (5 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 332635	NM_003690.5(PRKRA):c.1A>C (p.Met1Leu)	PJVK, PRKRA (M1L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +4 more	GBenign/Likely benign
Select item 332637	NM_003690.5(PRKRA):c.-24G>A	PJVK, PRKRA	Single nucleotide variant (5 prime UTR variant)	Dystonic disorder +3 more	GBenign/Likely benign
Select item 1214892	NM_001042702.5(PJVK):c.-22-55C>T	PJVK	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 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 1197111	NM_001042702.5(PJVK):c.87C>A (p.Asp29Glu)	PJVK (D29E +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1327387	NM_001042702.5(PJVK):c.154A>T (p.Thr52Ser)	PJVK (T52S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1214556	NM_001042702.5(PJVK):c.211+39G>A	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216551	NM_001042702.5(PJVK):c.212-272C>T	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194506	NM_001042702.5(PJVK):c.212-247G>T	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1195790	NM_001042702.5(PJVK):c.344C>T (p.Ser115Leu)	PJVK (S115L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1233087	NM_001042702.5(PJVK):c.407+137G>A	PJVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219682	NM_001042702.5(PJVK):c.407+277C>T	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280594	NM_001042702.5(PJVK):c.408-235C>T	PJVK	Single nucleotide variant (intron variant)	not provided	GBenign
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 1297	NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp)	PJVK (R183W +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 59 +2 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 1283969	NM_001042702.5(PJVK):c.549+172del	PJVK	Deletion (intron variant)	not provided	GBenign
Select item 1205582	NM_001042702.5(PJVK):c.550-282dup	PJVK	Duplication (intron variant)	not provided	GLikely benign
Select item 1265222	NM_001042702.5(PJVK):c.550-282del	PJVK	Deletion (intron variant)	not provided	GBenign
Select item 1279627	NM_001042702.5(PJVK):c.550-120C>T	PJVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207278	NM_001042702.5(PJVK):c.550-106T>A	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1704165	NM_001042702.5(PJVK):c.560T>C (p.Met187Thr)	PJVK (M187T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576671	NM_001042702.5(PJVK):c.588C>G (p.Asp196Glu)	PJVK (D196E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1333037	NM_001042702.5(PJVK):c.592G>C (p.Ala198Pro)	PJVK (A198P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1195867	NM_001042702.5(PJVK):c.614C>A (p.Thr205Lys)	PJVK (T205K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205345	NM_001042702.5(PJVK):c.667+64G>T	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220500	NM_001042702.5(PJVK):c.667+187A>G	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210692	NM_001042702.5(PJVK):c.668-285G>T	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222416	NM_001042702.5(PJVK):c.668-80G>T	PJVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 163059	NM_001042702.5(PJVK):c.766A>C (p.Asn256His)	PJVK (N256H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 1192134	NM_001042702.5(PJVK):c.766+40dup	PJVK	Duplication (intron variant)	not provided	GLikely benign
Select item 1274271	NM_001042702.5(PJVK):c.766+31T>C	PJVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192747	NM_001042702.5(PJVK):c.767-211C>T	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175453	NM_001042702.5(PJVK):c.767-201G>A	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257786	NM_001042702.5(PJVK):c.767-134C>A	PJVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245366	NM_001042702.5(PJVK):c.767-111_767-110dup	PJVK	Duplication (intron variant)	not provided	GBenign
Select item 1182983	NM_001042702.5(PJVK):c.767-110dup	PJVK	Duplication (intron variant)	not provided	GBenign
Select item 1259017	NM_001042702.5(PJVK):c.767-110del	PJVK	Deletion (intron variant)	not provided	GBenign
Select item 1247802	NM_001042702.5(PJVK):c.767-119_767-110del	PJVK	Deletion (intron variant)	not provided	GBenign
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 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 1801101	NM_001042702.5(PJVK):c.826G>A (p.Asp276Asn)	PJVK (D117N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1331312	NM_001042702.5(PJVK):c.846C>T (p.Leu282=)	PJVK	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 1065005	NM_001042702.5(PJVK):c.887G>A (p.Arg296Gln)	PJVK (R137Q +3 more)	Single nucleotide variant (missense variant)	Hearing impairment +2 more	GUncertain significance
Select item 2506836	NM_001042702.5(PJVK):c.961_964dup (p.Val322fs)	PJVK (V163fs +3 more)	Duplication (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 1683217	NM_001042702.5(PJVK):c.1050G>C (p.Arg350Ser)	PJVK (R191S +3 more)	Single nucleotide variant (missense variant)	not provided	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 1186671	NM_001042702.5(PJVK):c.206_207del	PJVK	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1210768	NM_001042702.5(PJVK):c.*232A>G	PJVK	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 59