"GeneDx"[submitter] AND "GCNT2"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1286956	NM_145649.5(GCNT2):c.-281-70T>C	GCNT2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1233305	NM_145649.5(GCNT2):c.-131A>G	GCNT2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1285722	NM_145649.5(GCNT2):c.-58T>C	GCNT2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1285739	NM_145649.5(GCNT2):c.-26A>C	GCNT2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1182271	NM_145649.5(GCNT2):c.305C>G (p.Thr102Ser)	GCNT2 (T102S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1191362	NM_145649.5(GCNT2):c.925+104C>A	GCNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215107	NM_145649.5(GCNT2):c.925+167A>T	GCNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277355	NM_145649.5(GCNT2):c.925+25819G>A	GCNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 354691	NM_145649.5(GCNT2):c.925+25913G>T	GCNT2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 354699	NM_001491.3(GCNT2):c.8T>C (p.Leu3Ser)	GCNT2 (L3S)	Single nucleotide variant (missense variant +1 more)	Blood group, I system +2 more	GBenign
Select item 258157	NM_001491.3(GCNT2):c.216C>T (p.Cys72=)	GCNT2	Single nucleotide variant (synonymous variant +1 more)	Cataract 13 with adult I phenotype +3 more	GBenign
Select item 354703	NM_001491.3(GCNT2):c.330G>A (p.Arg110=)	GCNT2	Single nucleotide variant (synonymous variant +1 more)	Blood group, I system +2 more	GBenign
Select item 354707	NM_001491.3(GCNT2):c.687T>C (p.Tyr229=)	GCNT2	Single nucleotide variant (synonymous variant +1 more)	Blood group, I system +2 more	GBenign
Select item 1276434	NM_145649.5(GCNT2):c.925+27669del	GCNT2	Deletion (intron variant)	not provided	GBenign
Select item 145912	GRCh38/hg38 6p24.3-24.2(chr6:10564018-10629482)x1	GCNT2, LOC123575665	Copy number loss	See cases	GLikely benign
Select item 1706920	NM_145649.5(GCNT2):c.926-35733C>A	GCNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203737	NM_145649.5(GCNT2):c.926-35732G>A	GCNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244006	NM_145649.5(GCNT2):c.926-35604A>G	GCNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242272	NM_145649.5(GCNT2):c.926-35578A>C	GCNT2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1706921	NM_145649.5(GCNT2):c.926-35472G>A	GCNT2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1238450	NM_145649.5(GCNT2):c.926-35471G>A	GCNT2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1266532	NM_145649.5(GCNT2):c.926-34655A>G	GCNT2 (H236R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1174626	NM_145649.5(GCNT2):c.926-34546C>G	GCNT2 (D272E)	Single nucleotide variant (missense variant +1 more)	Cataract 13 with adult I phenotype +1 more	GBenign
Select item 1272672	NM_145649.5(GCNT2):c.926-34528A>G	GCNT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1223731	NM_145649.5(GCNT2):c.926-34179T>C	GCNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234824	NM_145649.5(GCNT2):c.926-34163G>A	GCNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1697056	NM_145649.5(GCNT2):c.926-193A>G	GCNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281467	NM_145649.5(GCNT2):c.926-37C>T	GCNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 391563	NM_145649.5(GCNT2):c.1018G>A (p.Gly340Ser)	GCNT2 (G338S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1290731	NM_145649.5(GCNT2):c.1018+154C>T	GCNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243404	NM_145649.5(GCNT2):c.1018+191T>C	GCNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270475	NM_145649.5(GCNT2):c.1018+252T>C	GCNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286930	NM_145649.5(GCNT2):c.1018+288A>G	GCNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269906	NM_145649.5(GCNT2):c.1019-238C>T	GCNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282576	NM_145649.5(GCNT2):c.1019-86G>A	GCNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 354710	NM_145649.5(GCNT2):c.*81G>A	GCNT2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 253905	GRCh37/hg19 6p24.3-24.2(chr6:10489661-10725195)x1	C6orf52, GCNT2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic

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Items: 40