"GeneDx"[submitter] AND "LOC112694756"[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 58735	GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1	ALDOA, APOBR +186 more	Copy number loss	See cases	GPathogenic
Select item 60372	GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1	LOC130058756, LOC130058757 +170 more	Copy number loss	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 382582	NC_000016.10:g.30053202C>T	LOC112694756, ALDOA	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 380078	NC_000016.10:g.30053445C>T	ALDOA, LOC112694756	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 390275	NC_000016.10:g.30053469G>A	ALDOA, LOC112694756	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 507732	NC_000016.10:g.30053492C>T	LOC112694756, ALDOA	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 382430	NC_000016.10:g.30054780C>G	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 510732	NC_000016.10:g.30054797C>T	LOC112694756, ALDOA (P7L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 382104	NC_000016.10:g.30054945G>C	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 380494	NC_000016.10:g.30054946G>A	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1234577	NC_000016.10:g.30055012_30055013del	ALDOA, LOC112694756	Deletion (intron variant)	not provided	GBenign
Select item 387989	NM_184043.2(ALDOA):c.-108C>T	ALDOA, LOC112694756	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 388656	NM_184043.2(ALDOA):c.-88T>G	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 513850	NM_184043.2(ALDOA):c.-22+15dup	ALDOA, LOC112694756	Duplication (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 389402	NM_184043.2(ALDOA):c.-22+11A>C	ALDOA, LOC112694756	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1209121	NM_001243177.4(ALDOA):c.141+88G>A	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168171	NM_001243177.4(ALDOA):c.142-63G>C	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 386055	NM_001243177.4(ALDOA):c.192G>A (p.Pro64=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 382616	NM_001243177.4(ALDOA):c.225C>T (p.His75=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 503727	NM_001243177.4(ALDOA):c.274+4C>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1212211	NM_001243177.4(ALDOA):c.274+29G>A	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326760	NM_001243177.4(ALDOA):c.309C>T (p.Thr103=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency +1 more	GLikely benign
Select item 382578	NM_001243177.4(ALDOA):c.411A>G (p.Thr137=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency +1 more	GBenign/Likely benign
Select item 513100	NM_001243177.4(ALDOA):c.471T>A (p.Gly157=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency +1 more	GLikely benign
Select item 385014	NM_001243177.4(ALDOA):c.486+17C>G	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency +1 more	GBenign/Likely benign
Select item 1268104	NM_001243177.4(ALDOA):c.487-243T>C	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286273	NM_001243177.4(ALDOA):c.487-143_487-138del	ALDOA, LOC112694756	Deletion (intron variant)	not provided	GBenign
Select item 1296472	NM_001243177.4(ALDOA):c.487-115A>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 388874	NM_001243177.4(ALDOA):c.487-9C>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 510858	NM_001243177.4(ALDOA):c.498C>T (p.Gly166=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency +1 more	GLikely benign
Select item 1292517	NM_001243177.4(ALDOA):c.541+42G>A	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 385797	NM_001243177.4(ALDOA):c.542-16C>A	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 516941	NM_001243177.4(ALDOA):c.585C>T (p.Asp195=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency +2 more	GLikely benign
Select item 514382	NM_001243177.4(ALDOA):c.591T>C (p.Ala197=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 510857	NM_001243177.4(ALDOA):c.597C>T (p.Phe199=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 389736	NM_001243177.4(ALDOA):c.648C>G (p.Leu216=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency +1 more	GBenign/Likely benign
Select item 423153	NM_001243177.4(ALDOA):c.764G>A (p.Arg255His)	ALDOA, LOC112694756 (R201H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency +1 more	GUncertain significance
Select item 1199550	NM_001243177.4(ALDOA):c.787-51C>A	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231297	NM_001243177.4(ALDOA):c.787-40C>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 510534	NM_001243177.4(ALDOA):c.787-20G>A	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 510589	NM_001243177.4(ALDOA):c.787-15C>G	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 450306	NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile)	ALDOA, LOC112694756 (V254I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1302897	NM_001243177.4(ALDOA):c.929C>T (p.Ala310Val)	ALDOA, LOC112694756 (A256V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 390900	NM_001243177.4(ALDOA):c.961+11C>T	LOC112694756, ALDOA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 508753	NM_001243177.4(ALDOA):c.961+12A>G	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 390691	NM_001243177.4(ALDOA):c.961+17T>C	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1203298	NM_001243177.4(ALDOA):c.961+55C>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1321756	NM_001243177.4(ALDOA):c.962-63C>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 387249	NM_001243177.4(ALDOA):c.962-20G>A	LOC112694756, ALDOA	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 381165	NM_001243177.4(ALDOA):c.973C>T (p.Leu325=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency +1 more	GBenign/Likely benign
Select item 382617	NM_001243177.4(ALDOA):c.1002G>A (p.Ala334=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 390408	NM_001243177.4(ALDOA):c.1032C>T (p.Cys344=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1698068	NM_001243177.4(ALDOA):c.1073G>A (p.Arg358Gln)	LOC112694756, ALDOA (R304Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 318838	NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency +1 more	GConflicting classifications of pathogenicity
Select item 379944	NM_001243177.4(ALDOA):c.1161+17G>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 384272	NM_001243177.4(ALDOA):c.1182A>G (p.Gln394=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 318839	NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 318840	NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)	ALDOA, LOC112694756 (G347S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency +1 more	GConflicting classifications of pathogenicity

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Items: 62