"GeneDx"[submitter] AND "DNAJC12"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 1286374	NM_021800.3(DNAJC12):c.*142A>G	DNAJC12	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1221004	NM_021800.3(DNAJC12):c.*72T>C	DNAJC12	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1291651	NM_021800.3(DNAJC12):c.503-277T>C	DNAJC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282692	NM_021800.3(DNAJC12):c.502+132A>G	DNAJC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228916	NM_021800.3(DNAJC12):c.502+114T>C	DNAJC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280177	NM_021800.3(DNAJC12):c.502+51T>C	DNAJC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 870654	NM_021800.3(DNAJC12):c.502+1G>C	DNAJC12	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2056666	NM_021800.3(DNAJC12):c.416A>G (p.Glu139Gly)	DNAJC12 (E139G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185914	NM_021800.3(DNAJC12):c.410_413del (p.Lys137fs)	DNAJC12 (K137fs)	Microsatellite (frameshift variant)	Hyperphenylalaninemia due to DNAJC12 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 768367	NM_021800.3(DNAJC12):c.387T>G (p.Cys129Trp)	DNAJC12 (C129W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768368	NM_021800.3(DNAJC12):c.372G>T (p.Met124Ile)	DNAJC12 (M124I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1228286	NM_021800.3(DNAJC12):c.298-266G>A	DNAJC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170480	NM_021800.3(DNAJC12):c.297+18T>G	DNAJC12	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1169625	NM_021800.3(DNAJC12):c.243C>T (p.Ser81=)	DNAJC12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1305071	NM_021800.3(DNAJC12):c.224A>G (p.Tyr75Cys)	DNAJC12 (Y75C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1308740	NM_021800.3(DNAJC12):c.164C>T (p.Thr55Ile)	DNAJC12 (T55I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1261797	NM_021800.3(DNAJC12):c.157+135A>G	DNAJC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 694071	NM_021800.3(DNAJC12):c.85del (p.Gln29fs)	DNAJC12 (Q29fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 786161	NM_021800.3(DNAJC12):c.79-9T>G	DNAJC12	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1238074	NM_021800.3(DNAJC12):c.79-56C>T	DNAJC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220673	NM_021800.3(DNAJC12):c.79-250T>C	DNAJC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284055	NM_021800.3(DNAJC12):c.79-269C>T	DNAJC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289022	NM_021800.3(DNAJC12):c.-17C>T	DNAJC12	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1220168	NM_021800.3(DNAJC12):c.-55G>A	DNAJC12	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1239992	NC_000010.11:g.67838376T>C	DNAJC12	Single nucleotide variant	not provided	GBenign

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Items: 26