"GALNT12-related condition"[Disease/phenotype] AND "PreventionGenetics - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3060701	NM_024642.5(GALNT12):c.-10T>C	GALNT12	Single nucleotide variant (5 prime UTR variant)	GALNT12-related condition	GLikely benign
Select item 3029558	NM_024642.5(GALNT12):c.-9G>A	GALNT12	Single nucleotide variant (5 prime UTR variant)	GALNT12-related condition	GLikely benign
Select item 824864	NM_024642.5(GALNT12):c.43C>A (p.Arg15=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 485632	NM_024642.5(GALNT12):c.136G>A (p.Gly46Arg)	GALNT12 (G46R)	Single nucleotide variant (missense variant)	GALNT12-related condition +2 more	GBenign/Likely benign
Select item 241508	NM_024642.5(GALNT12):c.136_138delinsAGA (p.Gly46Arg)	GALNT12 (G46R)	Indel (missense variant)	GALNT12-related condition +2 more	GLikely benign
Select item 416215	NM_024642.5(GALNT12):c.144C>G (p.Ala48=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2598967	NM_024642.5(GALNT12):c.228C>A (p.Gly76=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 410580	NM_024642.5(GALNT12):c.303C>G (p.His101Gln)	GALNT12 (H101Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 701863	NM_024642.5(GALNT12):c.321C>T (p.Leu107=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 485633	NM_024642.5(GALNT12):c.356A>T (p.Glu119Val)	GALNT12 (E119V)	Single nucleotide variant (missense variant)	GALNT12-related condition +2 more	GBenign
Select item 416212	NM_024642.5(GALNT12):c.567T>C (p.Asn189=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 416209	NM_024642.5(GALNT12):c.579A>G (p.Gly193=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 416214	NM_024642.5(GALNT12):c.673A>T (p.Thr225Ser)	GALNT12 (T225S)	Single nucleotide variant (missense variant)	GALNT12-related condition +2 more	GConflicting classifications of pathogenicity
Select item 410592	NM_024642.5(GALNT12):c.691T>C (p.Cys231Arg)	GALNT12 (C231R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 410589	NM_024642.5(GALNT12):c.719C>T (p.Pro240Leu)	GALNT12 (P240L)	Single nucleotide variant (missense variant)	Breast neoplasm +3 more	GBenign/Likely benign
Select item 658286	NM_024642.5(GALNT12):c.731+4C>T	GALNT12	Single nucleotide variant (intron variant)	GALNT12-related condition +2 more	GConflicting classifications of pathogenicity
Select item 416222	NM_024642.5(GALNT12):c.840C>T (p.Asp280=)	GALNT12	Single nucleotide variant (synonymous variant)	GALNT12-related condition +2 more	GBenign/Likely benign
Select item 485651	NM_024642.5(GALNT12):c.858G>T (p.Thr286=)	GALNT12	Single nucleotide variant (synonymous variant)	GALNT12-related condition +2 more	GLikely benign
Select item 485650	NM_024642.5(GALNT12):c.858G>A (p.Thr286=)	GALNT12	Single nucleotide variant (synonymous variant)	GALNT12-related condition +2 more	GLikely benign
Select item 241518	NM_024642.5(GALNT12):c.889C>T (p.Arg297Trp)	GALNT12 (R297W)	Single nucleotide variant (missense variant)	GALNT12-related condition +3 more	GConflicting classifications of pathogenicity
Select item 416216	NM_024642.5(GALNT12):c.897A>G (p.Gln299=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 224569	NM_024642.5(GALNT12):c.907G>A (p.Asp303Asn)	GALNT12 (D303N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 485674	NM_024642.5(GALNT12):c.1197C>T (p.Asn399=)	GALNT12	Single nucleotide variant (synonymous variant)	GALNT12-related condition +2 more	GLikely benign
Select item 859007	NM_024642.5(GALNT12):c.1213-10G>T	GALNT12	Single nucleotide variant (intron variant)	GALNT12-related condition +1 more	GConflicting classifications of pathogenicity
Select item 416223	NM_024642.5(GALNT12):c.1392C>T (p.Pro464=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 220673	NM_024642.5(GALNT12):c.1392C>G (p.Pro464=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1498461	NM_024642.5(GALNT12):c.1459-15_1459-1dup	GALNT12	Duplication (splice acceptor variant)	not provided +2 more	GUncertain significance
Select item 2630454	NM_024642.5(GALNT12):c.1562G>A (p.Cys521Tyr)	GALNT12 (C521Y)	Single nucleotide variant (missense variant)	GALNT12-related condition	GUncertain significance
Select item 698934	NM_024642.5(GALNT12):c.1563C>T (p.Cys521=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1501198	NM_024642.5(GALNT12):c.1676T>G (p.Phe559Cys)	GALNT12 (F559C)	Single nucleotide variant (missense variant)	GALNT12-related condition +1 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 30