"GeneDx"[submitter] AND "PRDM12"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59135	GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	LOC130002822, LOC130002823 +160 more	Copy number loss	See cases	GPathogenic
Select item 1289053	NC_000009.12:g.130664274A>G	PRDM12	Single nucleotide variant	not provided	GBenign
Select item 1190451	NC_000009.12:g.130664313G>A	PRDM12	Single nucleotide variant	not provided	GLikely benign
Select item 1217535	NC_000009.12:g.130664464C>A	PRDM12	Single nucleotide variant	not provided	GLikely benign
Select item 3365401	NM_021619.3(PRDM12):c.6G>A (p.Met2Ile)	PRDM12 (M2I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175445	NM_021619.3(PRDM12):c.219C>T (p.Ser73=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome +1 more	GLikely benign
Select item 1219476	NM_021619.3(PRDM12):c.223+170C>T	PRDM12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229908	NM_021619.3(PRDM12):c.223+244C>A	PRDM12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213372	NM_021619.3(PRDM12):c.224-254C>T	PRDM12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262354	NM_021619.3(PRDM12):c.224-85C>T	PRDM12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191340	NM_021619.3(PRDM12):c.224-37C>T	PRDM12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218430	NM_021619.3(PRDM12):c.415-279C>G	PRDM12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214123	NM_021619.3(PRDM12):c.415-200C>A	PRDM12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179958	NM_021619.3(PRDM12):c.415-176T>G	PRDM12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1310041	NM_021619.3(PRDM12):c.422A>G (p.Asn141Ser)	PRDM12 (N141S)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome +2 more	GUncertain significance
Select item 475814	NM_021619.3(PRDM12):c.426G>A (p.Glu142=)	PRDM12	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 568097	NM_021619.3(PRDM12):c.440G>A (p.Arg147His)	PRDM12 (R147H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1277556	NM_021619.3(PRDM12):c.570+280G>T	PRDM12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228999	NM_021619.3(PRDM12):c.570+281A>T	PRDM12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217699	NM_021619.3(PRDM12):c.571-36G>A	PRDM12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 451909	NM_021619.3(PRDM12):c.600_606delinsCA (p.Trp201fs)	PRDM12 (W201fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1165169	NM_021619.3(PRDM12):c.648C>T (p.Pro216=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome +1 more	GBenign
Select item 1225621	NM_021619.3(PRDM12):c.682+38A>G	PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome +1 more	GBenign
Select item 1204774	NM_021619.3(PRDM12):c.682+103G>A	PRDM12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239509	NM_021619.3(PRDM12):c.682+162C>T	PRDM12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191660	NM_021619.3(PRDM12):c.683-294T>C	PRDM12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237125	NM_021619.3(PRDM12):c.683-200del	PRDM12	Deletion (intron variant)	not provided	GBenign
Select item 1192913	NM_021619.3(PRDM12):c.683-27CCCCG[5]	LOC130002813, PRDM12	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1199181	NM_021619.3(PRDM12):c.742T>G (p.Cys248Gly)	PRDM12 (C248G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1304516	NM_021619.3(PRDM12):c.775C>G (p.Arg259Gly)	PRDM12 (R259G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1199182	NM_021619.3(PRDM12):c.788G>A (p.Arg263His)	PRDM12 (R263H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3377911	NM_021619.3(PRDM12):c.808C>T (p.Pro270Ser)	PRDM12 (P270S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430206	NM_021619.3(PRDM12):c.811T>G (p.Phe271Val)	PRDM12 (F271V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 475817	NM_021619.3(PRDM12):c.855G>A (p.Thr285=)	PRDM12	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1165170	NM_021619.3(PRDM12):c.978C>T (p.Pro326=)	PRDM12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 475818	NM_021619.3(PRDM12):c.995C>A (p.Ala332Glu)	PRDM12 (A332E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1304751	NM_021619.3(PRDM12):c.1041_1042insCGC (p.Leu347_Ala348insArg)	PRDM12	Insertion (inframe_insertion)	not provided	GBenign
Select item 475813	NM_021619.3(PRDM12):c.1041CGC[13] (p.Ala359dup)	PRDM12	Microsatellite (inframe_insertion)	Congenital insensitivity to pain-hypohidrosis syndrome +1 more	GBenign
Select item 475812	NM_021619.3(PRDM12):c.1041CGC[14] (p.Ala358_Ala359dup)	PRDM12	Microsatellite (inframe_insertion)	not provided +1 more	GBenign
Select item 648392	NM_021619.3(PRDM12):c.1041CGC[11] (p.Ala359del)	PRDM12 (A359del)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 475809	NM_021619.3(PRDM12):c.1041CGC[9] (p.Ala357_Ala359del)	PRDM12	Microsatellite (inframe_deletion)	not provided +2 more	GBenign
Select item 475808	NM_021619.3(PRDM12):c.1041CGC[7] (p.Ala355_Ala359del)	PRDM12	Microsatellite (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 475807	NM_021619.3(PRDM12):c.1041CGC[6] (p.Ala354_Ala359del)	PRDM12	Microsatellite (inframe_deletion)	Congenital insensitivity to pain-hypohidrosis syndrome +1 more	GBenign/Likely benign
Select item 1277097	NM_021619.3(PRDM12):c.*49C>T	PRDM12	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1189759	NM_021619.3(PRDM12):c.*51C>T	PRDM12	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1228883	NM_021619.3(PRDM12):c.*52C>G	PRDM12	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1293991	NM_021619.3(PRDM12):c.*66G>A	PRDM12	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 48