27030[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 59606	GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1	ADAMTS12, AGXT2 +116 more	Copy number loss	See cases	GPathogenic
Select item 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 1695122	NM_001012339.3(DNAJC21):c.-171del	DNAJC21, LOC129993790	Deletion (5 prime UTR variant)	not provided	GUncertain significance
Select item 3037808	NM_001012339.3(DNAJC21):c.-7T>G	DNAJC21	Single nucleotide variant (5 prime UTR variant)	DNAJC21-related disorder	GLikely benign
Select item 2882549	NM_001012339.3(DNAJC21):c.6G>A (p.Lys2=)	DNAJC21, LOC129993792	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1634335	NM_001012339.3(DNAJC21):c.12C>T (p.His4=)	DNAJC21, LOC129993792	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2091860	NM_001012339.3(DNAJC21):c.13T>G (p.Tyr5Asp)	DNAJC21, LOC129993792 (Y5D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807142	NM_001012339.3(DNAJC21):c.15T>G (p.Tyr5Ter)	LOC129993792, DNAJC21 (Y5*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2891321	NM_001012339.3(DNAJC21):c.21G>T (p.Ala7=)	DNAJC21, LOC129993792	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1381698	NM_001012339.3(DNAJC21):c.23T>G (p.Leu8Arg)	DNAJC21, LOC129993792 (L8R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074816	NM_001012339.3(DNAJC21):c.25G>A (p.Gly9Arg)	DNAJC21, LOC129993792 (G9R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081833	NM_001012339.3(DNAJC21):c.28G>T (p.Val10Leu)	DNAJC21, LOC129993792 (V10L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3084546	NM_001012339.3(DNAJC21):c.32G>T (p.Arg11Leu)	DNAJC21, LOC129993792 (R11L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2062915	NM_001012339.3(DNAJC21):c.32G>C (p.Arg11Pro)	DNAJC21, LOC129993792 (R11P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354212	NM_001012339.3(DNAJC21):c.35_36delinsAG (p.Arg12Gln)	DNAJC21, LOC129993792 (R12Q)	Indel (missense variant)	not provided	GUncertain significance
Select item 1475927	NM_001012339.3(DNAJC21):c.43A>C (p.Ser15Arg)	DNAJC21, LOC129993792 (S15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094655	NM_001012339.3(DNAJC21):c.50A>T (p.Glu17Val)	DNAJC21, LOC129993792 (E17V)	Single nucleotide variant (missense variant)	DNAJC21-related disorder +1 more	GUncertain significance
Select item 798856	NM_001012339.3(DNAJC21):c.50A>G (p.Glu17Gly)	DNAJC21, LOC129993792 (E17G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 717195	NM_001012339.3(DNAJC21):c.51G>A (p.Glu17=)	DNAJC21, LOC129993792	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840038	NM_001012339.3(DNAJC21):c.57C>T (p.Leu19=)	DNAJC21, LOC129993792	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 222063	NM_001012339.3(DNAJC21):c.94C>G (p.Pro32Ala)	DNAJC21, LOC129993792 (P32A)	Single nucleotide variant (missense variant)	Bone marrow failure syndrome 3 +1 more	GPathogenic
Select item 1949835	NM_001012339.3(DNAJC21):c.96G>T (p.Pro32=)	DNAJC21, LOC129993792	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2806396	NM_001012339.3(DNAJC21):c.97+1G>T	DNAJC21, LOC129993792	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1349241	NM_001012339.3(DNAJC21):c.97+1G>C	DNAJC21, LOC129993792	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2186567	NM_001012339.3(DNAJC21):c.97+4A>G	DNAJC21, LOC129993792	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 724583	NM_001012339.3(DNAJC21):c.97+5G>A	LOC129993792, DNAJC21	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2959934	NM_001012339.3(DNAJC21):c.97+12T>A	DNAJC21, LOC129993792	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168765	NM_001012339.3(DNAJC21):c.97+12T>G	DNAJC21, LOC129993792	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1942371	NM_001012339.3(DNAJC21):c.97+14C>T	DNAJC21, LOC129993792	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941638	NM_001012339.3(DNAJC21):c.97+15C>T	DNAJC21, LOC129993792	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959160	NM_001012339.3(DNAJC21):c.97+16G>T	DNAJC21, LOC129993792	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1965711	NM_001012339.3(DNAJC21):c.97+20C>T	DNAJC21, LOC129993792	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1481068	NM_001012339.3(DNAJC21):c.98-19A>G	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658586	NM_001012339.3(DNAJC21):c.98-16T>C	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695074	NM_001012339.3(DNAJC21):c.98-13G>A	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663492	NM_001012339.3(DNAJC21):c.98-10A>T	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 617607	NM_001012339.3(DNAJC21):c.100A>G (p.Lys34Glu)	DNAJC21 (K34E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 1981059	NM_001012339.3(DNAJC21):c.101A>G (p.Lys34Arg)	DNAJC21 (K34R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1666698	NM_001012339.3(DNAJC21):c.117C>T (p.Ala39=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1437621	NM_001012339.3(DNAJC21):c.118G>A (p.Ala40Thr)	DNAJC21 (A40T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339571	NM_001012339.3(DNAJC21):c.148C>T (p.Gln50Ter)	DNAJC21 (Q50*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1390276	NM_001012339.3(DNAJC21):c.175C>T (p.Pro59Ser)	DNAJC21 (P59S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1661089	NM_001012339.3(DNAJC21):c.189A>G (p.Ala63=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 762942	NM_001012339.3(DNAJC21):c.191+8T>C	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164684	NM_001012339.3(DNAJC21):c.191+10A>G	DNAJC21	Single nucleotide variant (intron variant)	Bone marrow failure syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 1604718	NM_001012339.3(DNAJC21):c.191+11C>T	DNAJC21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1654440	NM_001012339.3(DNAJC21):c.191+12G>T	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864141	NM_001012339.3(DNAJC21):c.191+18C>G	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1613406	NM_001012339.3(DNAJC21):c.191+18C>T	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900514	NM_001012339.3(DNAJC21):c.192-19G>A	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666559	NM_001012339.3(DNAJC21):c.192-14T>G	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839257	NM_001012339.3(DNAJC21):c.192-9G>C	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2015553	NM_001012339.3(DNAJC21):c.192-4T>A	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1493426	NM_001012339.3(DNAJC21):c.192-3C>A	DNAJC21	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2419259	NM_001012339.3(DNAJC21):c.198T>C (p.Asp66=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2215909	NM_001012339.3(DNAJC21):c.203A>G (p.His68Arg)	DNAJC21 (H68R)	Single nucleotide variant (missense variant)	Bone marrow failure syndrome 3 +1 more	GUncertain significance
Select item 2021093	NM_001012339.3(DNAJC21):c.213C>T (p.Ala71=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1425044	NM_001012339.3(DNAJC21):c.214C>G (p.Leu72Val)	DNAJC21 (L72V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 732646	NM_001012339.3(DNAJC21):c.222A>G (p.Lys74=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1357982	NM_001012339.3(DNAJC21):c.230T>C (p.Phe77Ser)	DNAJC21 (F77S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1390681	NM_001012339.3(DNAJC21):c.238G>A (p.Glu80Lys)	DNAJC21 (E80K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452422	NM_001012339.3(DNAJC21):c.247G>T (p.Asp83Tyr)	DNAJC21 (D83Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1372084	NM_001012339.3(DNAJC21):c.253A>G (p.Ser85Gly)	DNAJC21 (S85G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2900657	NM_001012339.3(DNAJC21):c.255C>T (p.Ser85=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1469617	NM_001012339.3(DNAJC21):c.268C>T (p.Arg90Cys)	DNAJC21 (R90C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1547970	NM_001012339.3(DNAJC21):c.270C>T (p.Arg90=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1353226	NM_001012339.3(DNAJC21):c.271T>C (p.Tyr91His)	DNAJC21 (Y91H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 764001	NM_001012339.3(DNAJC21):c.279C>T (p.Thr93=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2159235	NM_001012339.3(DNAJC21):c.280G>A (p.Val94Ile)	DNAJC21 (V94I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1392677	NM_001012339.3(DNAJC21):c.280G>T (p.Val94Phe)	DNAJC21 (V94F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2536817	NM_001012339.3(DNAJC21):c.290A>T (p.Tyr97Phe)	DNAJC21 (Y97F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1365071	NM_001012339.3(DNAJC21):c.290A>C (p.Tyr97Ser)	DNAJC21 (Y97S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181302	NM_001012339.3(DNAJC21):c.314del (p.Lys105fs)	DNAJC21 (K105fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2853285	NM_001012339.3(DNAJC21):c.315+1G>T	DNAJC21	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2027515	NM_001012339.3(DNAJC21):c.316-18T>A	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1548885	NM_001012339.3(DNAJC21):c.316-14T>A	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2093252	NM_001012339.3(DNAJC21):c.316-3dup	DNAJC21	Duplication (intron variant)	not provided	GBenign
Select item 784050	NM_001012339.3(DNAJC21):c.316-8T>G	DNAJC21	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2585147	NM_001012339.3(DNAJC21):c.316-2A>C	DNAJC21	Single nucleotide variant (splice acceptor variant)	Bone marrow failure syndrome 3	GLikely pathogenic
Select item 1448657	NM_001012339.3(DNAJC21):c.326C>T (p.Thr109Met)	DNAJC21 (T109M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2194452	NM_001012339.3(DNAJC21):c.327G>C (p.Thr109=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731093	NM_001012339.3(DNAJC21):c.327G>A (p.Thr109=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1448091	NM_001012339.3(DNAJC21):c.332A>G (p.Tyr111Cys)	DNAJC21 (Y111C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1534566	NM_001012339.3(DNAJC21):c.334C>T (p.Arg112Cys)	DNAJC21 (R112C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1021219	NM_001012339.3(DNAJC21):c.335G>A (p.Arg112His)	DNAJC21 (R112H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1548034	NM_001012339.3(DNAJC21):c.337A>T (p.Asn113Tyr)	DNAJC21 (N113Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1452644	NM_001012339.3(DNAJC21):c.340del (p.Val114fs)	DNAJC21 (V114fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2816354	NM_001012339.3(DNAJC21):c.345del (p.Phe115fs)	DNAJC21 (F115fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2986127	NM_001012339.3(DNAJC21):c.348A>G (p.Glu116=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1404822	NM_001012339.3(DNAJC21):c.352A>G (p.Ile118Val)	DNAJC21 (I118V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1194636	NM_001012339.3(DNAJC21):c.370G>C (p.Glu124Gln)	DNAJC21 (E124Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1446309	NM_001012339.3(DNAJC21):c.377T>C (p.Val126Ala)	DNAJC21 (V126A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1637849	NM_001012339.3(DNAJC21):c.378G>T (p.Val126=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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