"GeneDx"[submitter] AND "GALNT12"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 1316424	NC_000009.12:g.98807646G>T	GALNT12	Single nucleotide variant	not provided	GLikely benign
Select item 1316419	NC_000009.12:g.98807655G>A	GALNT12	Single nucleotide variant	not provided	GLikely benign
Select item 485632	NM_024642.5(GALNT12):c.136G>A (p.Gly46Arg)	GALNT12 (G46R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 485633	NM_024642.5(GALNT12):c.356A>T (p.Glu119Val)	GALNT12 (E119V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1316423	NM_024642.5(GALNT12):c.371+130A>T	GALNT12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267715	NM_024642.5(GALNT12):c.372-94G>C	GALNT12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 416211	NM_024642.5(GALNT12):c.372-7T>A	GALNT12	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 241513	NM_024642.5(GALNT12):c.375C>T (p.Cys125=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1292453	NM_024642.5(GALNT12):c.541+74G>T	GALNT12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292445	NM_024642.5(GALNT12):c.541+124C>T	GALNT12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272810	NM_024642.5(GALNT12):c.541+285G>A	GALNT12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254990	NM_024642.5(GALNT12):c.542-304T>G	GALNT12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 416212	NM_024642.5(GALNT12):c.567T>C (p.Asn189=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 416209	NM_024642.5(GALNT12):c.579A>G (p.Gly193=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1235687	NM_024642.5(GALNT12):c.732-229T>C	GALNT12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234599	NM_024642.5(GALNT12):c.732-171T>G	GALNT12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 241516	NM_024642.5(GALNT12):c.750G>A (p.Ser250=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 241517	NM_024642.5(GALNT12):c.781G>A (p.Asp261Asn)	GALNT12 (D261N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 416222	NM_024642.5(GALNT12):c.840C>T (p.Asp280=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 416216	NM_024642.5(GALNT12):c.897A>G (p.Gln299=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1292594	NM_024642.5(GALNT12):c.917+24C>T	GALNT12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276248	NM_024642.5(GALNT12):c.918-263A>C	GALNT12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270749	NM_024642.5(GALNT12):c.1036-204A>G	GALNT12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260677	NM_024642.5(GALNT12):c.1036-42del	GALNT12	Deletion (intron variant)	not provided	GBenign
Select item 1292448	NM_024642.5(GALNT12):c.1212+128A>T	GALNT12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292449	NM_024642.5(GALNT12):c.1212+178C>G	GALNT12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292451	NM_024642.5(GALNT12):c.1213-113C>G	GALNT12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266802	NM_024642.5(GALNT12):c.1344+61G>T	GALNT12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286913	NM_024642.5(GALNT12):c.1344+135dup	GALNT12	Duplication (intron variant)	not provided	GBenign
Select item 220673	NM_024642.5(GALNT12):c.1392C>G (p.Pro464=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1292452	NM_024642.5(GALNT12):c.1458+58G>T	GALNT12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225776	NM_024642.5(GALNT12):c.1458+189C>T	GALNT12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252700	NM_024642.5(GALNT12):c.1459-327T>A	GALNT12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291110	NM_024642.5(GALNT12):c.1459-234C>A	GALNT12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226410	NM_024642.5(GALNT12):c.1459-216G>A	GALNT12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230332	NM_024642.5(GALNT12):c.1459-105T>A	GALNT12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 221077	NM_024642.5(GALNT12):c.1497C>T (p.Asn499=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 416221	NM_024642.5(GALNT12):c.1605+4G>A	GALNT12	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 1 +2 more	GBenign/Likely benign
Select item 241510	NM_024642.5(GALNT12):c.1677C>T (p.Phe559=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 485634	NM_024642.5(GALNT12):c.1707G>C (p.Ser569=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1270990	NM_024642.5(GALNT12):c.*67A>T	GALNT12	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1264871	NM_024642.5(GALNT12):c.*171A>G	GALNT12	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: 45