PDXK[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066806, LOC130066807 +334 more	Copy number loss	See cases	GPathogenic
Select item 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	AATBC, ADARB1 +276 more	Copy number loss	See cases	GPathogenic
Select item 144193	GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1	AATBC, ADARB1 +268 more	Copy number loss	See cases	GPathogenic
Select item 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 155502	GRCh38/hg38 21q22.3(chr21:43427322-43837467)x1	AATBC, CSTB +31 more	Copy number loss	See cases	GLikely benign
Select item 59033	GRCh38/hg38 21q22.3(chr21:43651490-43783031)x3	CSTB, HSF2BP +14 more	Copy number gain	See cases	GUncertain significance
Select item 59034	GRCh38/hg38 21q22.3(chr21:43675516-43976023)x3	AATBC, AGPAT3 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1245307	NC_000021.9:g.43718989_43718996dup	LOC130066785, PDXK	Duplication	not provided	GBenign
Select item 1229327	NC_000021.9:g.43719049G>T	LOC130066785, PDXK	Single nucleotide variant	not provided	GBenign
Select item 1248473	NM_003681.5(PDXK):c.-163A>G	LOC130066785, PDXK	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1285764	NM_003681.5(PDXK):c.88-199A>G	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2652724	NM_003681.5(PDXK):c.123C>G (p.Val41=)	PDXK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3352682	NM_003681.5(PDXK):c.142+8G>A	PDXK	Single nucleotide variant (intron variant)	PDXK-related disorder	GLikely benign
Select item 1248707	NM_003681.5(PDXK):c.142+140C>T	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279509	NM_003681.5(PDXK):c.142+171_142+172del	PDXK	Deletion (intron variant)	not provided	GBenign
Select item 1176767	NM_003681.5(PDXK):c.142+3058C>T	PDXK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3239277	NM_003681.5(PDXK):c.142+3165G>A	PDXK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181584	NM_003681.5(PDXK):c.143-202G>A	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231720	NM_003681.5(PDXK):c.143-116A>G	PDXK (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3040150	NM_003681.5(PDXK):c.143-115T>C	PDXK (M1T)	Single nucleotide variant (missense variant +2 more)	PDXK-related disorder	GBenign
Select item 3061003	NM_003681.5(PDXK):c.143-100C>T	PDXK (P6L)	Single nucleotide variant (missense variant +1 more)	PDXK-related disorder	GUncertain significance
Select item 2515429	NM_003681.5(PDXK):c.148G>A (p.Ala50Thr)	PDXK (A50T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388015	NM_003681.5(PDXK):c.220A>G (p.Met74Val)	PDXK (M74V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 812519	NM_003681.5(PDXK):c.225T>A (p.Asn75Lys)	PDXK (N35K +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy	GLikely pathogenic
Select item 1261359	NM_003681.5(PDXK):c.247+198T>C	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3256989	NM_003681.5(PDXK):c.254C>T (p.Thr85Met)	PDXK (T45M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3045920	NM_003681.5(PDXK):c.255G>A (p.Thr85=)	PDXK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2236425	NM_003681.5(PDXK):c.289A>G (p.Ile97Val)	PDXK (I97V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1327004	NM_003681.5(PDXK):c.331+26T>G	PDXK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1243627	NM_003681.5(PDXK):c.331+78G>A	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281595	NM_003681.5(PDXK):c.331+179G>T	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1013193	NM_003681.5(PDXK):c.374C>T (p.Ser125Leu)	PDXK (S125L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2405639	NM_003681.5(PDXK):c.377T>C (p.Met126Thr)	PDXK (M86T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1281094	NM_003681.5(PDXK):c.379-167T>C	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268466	NM_003681.5(PDXK):c.387G>A (p.Pro129=)	PDXK	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy +1 more	GBenign
Select item 2542284	NM_003681.5(PDXK):c.407A>G (p.Tyr136Cys)	PDXK (Y136C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701428	NM_003681.5(PDXK):c.417A>G (p.Lys139=)	PDXK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3055680	NM_003681.5(PDXK):c.426G>A (p.Pro142=)	PDXK	Single nucleotide variant (synonymous variant)	PDXK-related disorder	GBenign
Select item 1294914	NM_003681.5(PDXK):c.464+44A>G	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258034	NM_003681.5(PDXK):c.465-96A>G	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2652725	NM_003681.5(PDXK):c.465-15_489delinsGCA	PDXK	Indel (splice acceptor variant)	not provided	GPathogenic
Select item 2434643	NM_003681.5(PDXK):c.509G>A (p.Arg170Gln)	PDXK (R130Q +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy	GUncertain significance
Select item 1292034	NM_003681.5(PDXK):c.510+154A>G	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249501	NM_003681.5(PDXK):c.510+189TG[9]	PDXK	Microsatellite (intron variant)	not provided	GBenign
Select item 1279451	NM_003681.5(PDXK):c.511-20G>A	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3211111	NM_003681.5(PDXK):c.547G>A (p.Val183Met)	PDXK (V183M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1286429	NM_003681.5(PDXK):c.622+118G>A	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269812	NM_003681.5(PDXK):c.623-233C>A	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1176768	NM_003681.5(PDXK):c.631G>A (p.Ala211Thr)	PDXK (A171T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3211112	NM_003681.5(PDXK):c.638C>G (p.Ser213Cys)	PDXK (S173C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1246998	NM_003681.5(PDXK):c.639C>T (p.Ser213=)	PDXK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2210473	NM_003681.5(PDXK):c.643G>A (p.Val215Met)	PDXK (V175M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 636265	NM_003681.5(PDXK):c.659G>A (p.Arg220Gln)	PDXK (R220Q +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy	GPathogenic
Select item 636264	NM_003681.5(PDXK):c.682G>A (p.Ala228Thr)	PDXK (A228T +1 more)	Single nucleotide variant (missense variant)	PDXK-related disorder	GPathogenic
Select item 1250570	NM_003681.5(PDXK):c.759+105T>C	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175405	NM_003681.5(PDXK):c.760-209G>A	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241161	NM_003681.5(PDXK):c.760-8C>A	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3067349	NM_003681.5(PDXK):c.827C>T (p.Ala276Val)	PDXK (A236V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652726	NM_003681.5(PDXK):c.834C>T (p.Ala278=)	PDXK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2348515	NM_003681.5(PDXK):c.842G>A (p.Gly281Glu)	PDXK (G241E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354030	NM_003681.5(PDXK):c.875G>A (p.Arg292Gln)	PDXK (R252Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048934	NM_003681.5(PDXK):c.*8G>A	PDXK	Single nucleotide variant (3 prime UTR variant)	PDXK-related disorder	GBenign

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