494513[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +488 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	ABI2, AGPS +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
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 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	LOC129935258, LOC129935259 +312 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 583796	NC_000002.11:g.(?_179296804)_(179456251_?)dup	LOC126806421, LOC126806422 +17 more	Duplication	Dystonia 16	GUncertain significance
Select item 332633	NM_003690.5(PRKRA):c.32C>T (p.Pro11Leu)	PJVK, PRKRA (P11L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +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 specified +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 332646	NM_001042702.5(PJVK):c.-303G>A	PJVK	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 59 +1 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 332648	NM_001042702.5(PJVK):c.-263G>A	PJVK	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 59 +1 more	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 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 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 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 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 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 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 332654	NM_001042702.5(PJVK):c.-73C>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 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 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 369319	NM_001042702.5(PJVK):c.-28C>G	PJVK, PRKRA	Single nucleotide variant (5 prime UTR variant)	Dystonic disorder +1 more	GLikely 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 1120092	NM_001042702.5(PJVK):c.1A>G (p.Met1Val)	PJVK (M1V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2702065	NM_001042702.5(PJVK):c.18C>G (p.Thr6=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2746345	NM_001042702.5(PJVK):c.33G>A (p.Lys11=)	PJVK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 287281	NM_001042702.5(PJVK):c.49G>A (p.Gly17Arg)	PJVK (G17R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 43869	NM_001042702.5(PJVK):c.53G>T (p.Arg18Ile)	PJVK (R18I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2719460	NM_001042702.5(PJVK):c.56T>G (p.Leu19Ter)	PJVK (L54* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 43872	NM_001042702.5(PJVK):c.86A>G (p.Asp29Gly)	PJVK (D29G +2 more)	Single nucleotide variant (missense variant +2 more)	PJVK-related condition +3 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 2718001	NM_001042702.5(PJVK):c.93T>G (p.Tyr31Ter)	PJVK (Y66* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2869708	NM_001042702.5(PJVK):c.96A>G (p.Gln32=)	PJVK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3008805	NM_001042702.5(PJVK):c.102A>G (p.Leu34=)	PJVK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 504900	NM_001042702.5(PJVK):c.102A>T (p.Leu34=)	PJVK	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
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 1065014	NM_001042702.5(PJVK):c.113T>C (p.Val38Ala)	PJVK (V38A +2 more)	Single nucleotide variant (missense variant +2 more)	Hearing impairment	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 2683609	NM_001042702.5(PJVK):c.124C>T (p.Arg42Ter)	PJVK (R42* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 2807695	NM_001042702.5(PJVK):c.131_134del (p.Phe44fs)	PJVK (F47fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2705716	NM_001042702.5(PJVK):c.132T>C (p.Phe44=)	PJVK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3017258	NM_001042702.5(PJVK):c.135G>C (p.Leu45=)	PJVK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 796829	NM_001042702.5(PJVK):c.147T>C (p.Tyr49=)	PJVK	Single nucleotide variant (synonymous variant +1 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 560903	NM_001042702.5(PJVK):c.158C>G (p.Ser53Ter)	PJVK (S53* +2 more)	Single nucleotide variant (nonsense +1 more)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 560904	NM_001042702.5(PJVK):c.162_172del (p.Pro55fs)	PJVK (P55fs +2 more)	Deletion (frameshift variant +1 more)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
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 2876175	NM_001042702.5(PJVK):c.171A>G (p.Thr57=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998266	NM_001042702.5(PJVK):c.174G>C (p.Leu58=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2117325	NM_001042702.5(PJVK):c.182T>C (p.Ile61Thr)	PJVK (I61T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2908781	NM_001042702.5(PJVK):c.186C>G (p.Leu62=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2831368	NM_001042702.5(PJVK):c.190_194del (p.Gly64fs)	PJVK (G64fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2181562	NM_001042702.5(PJVK):c.193G>A (p.Asp65Asn)	PJVK (D68N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2993704	NM_001042702.5(PJVK):c.195C>T (p.Asp65=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 179555	NM_001042702.5(PJVK):c.195C>G (p.Asp65Glu)	PJVK (D65E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2803977	NM_001042702.5(PJVK):c.206C>G (p.Ser69Ter)	PJVK (S104* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1683211	NM_001042702.5(PJVK):c.211+9A>C	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834711	NM_001042702.5(PJVK):c.211+15T>C	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693535	NM_001042702.5(PJVK):c.211+18G>A	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2964687	NM_001042702.5(PJVK):c.212-20C>T	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 163061	NM_001042702.5(PJVK):c.212-12C>A	PJVK	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2782761	NM_001042702.5(PJVK):c.212-2A>G	PJVK	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 +2 more	GConflicting classifications of pathogenicity
Select item 2787962	NM_001042702.5(PJVK):c.222T>C (p.Ser74=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2794907	NM_001042702.5(PJVK):c.240T>C (p.Tyr80=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2871333	NM_001042702.5(PJVK):c.249A>G (p.Glu83=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	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)	Autosomal recessive nonsyndromic hearing loss 59 +1 more	GConflicting classifications of pathogenicity
Select item 2795261	NM_001042702.5(PJVK):c.267T>C (p.Tyr89=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2777948	NM_001042702.5(PJVK):c.274C>A (p.Arg92=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2734336	NM_001042702.5(PJVK):c.274C>T (p.Arg92Ter)	PJVK (R127* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 257310	NM_001042702.5(PJVK):c.279T>C (p.Gly93=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2698267	NM_001042702.5(PJVK):c.285T>C (p.His95=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967535	NM_001042702.5(PJVK):c.288T>A (p.Ile96=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 332659	NM_001042702.5(PJVK):c.298G>A (p.Val100Ile)	PJVK (V100I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2875650	NM_001042702.5(PJVK):c.309C>T (p.Asn103=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012023	NM_001042702.5(PJVK):c.321A>G (p.Ser107=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2907690	NM_001042702.5(PJVK):c.336G>A (p.Val112=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1683212	NM_001042702.5(PJVK):c.340G>T (p.Ala114Ser)	PJVK (A114S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 227296	NM_001042702.5(PJVK):c.360C>A (p.Thr120=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 1935986	NM_001042702.5(PJVK):c.391_392insTA (p.Lys131fs)	PJVK (K131fs +2 more)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 163062	NM_001042702.5(PJVK):c.405A>C (p.Thr135=)	PJVK	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 560905	NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter)	PJVK (R136* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 59 +1 more	GPathogenic
Select item 2973326	NM_001042702.5(PJVK):c.407+8_407+11del	PJVK	Deletion (intron variant)	not provided	GLikely benign
Select item 2743564	NM_001042702.5(PJVK):c.407+12A>C	PJVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 163063	NM_001042702.5(PJVK):c.407+15C>G	PJVK	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign

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