"GeneDx"[submitter] AND "ANKS6"[gene] - ClinVar

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Items: 89

	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 1190217	NM_173551.5(ANKS6):c.*262A>T	ANKS6	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1279257	NM_173551.5(ANKS6):c.*237G>C	ANKS6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1328662	NM_173551.5(ANKS6):c.*199C>T	ANKS6	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1250349	NM_173551.5(ANKS6):c.*192A>G	ANKS6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1224900	NM_173551.5(ANKS6):c.*40C>T	ANKS6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 390055	NM_173551.5(ANKS6):c.2593C>T (p.Pro865Ser)	ANKS6 (P865S)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +1 more	GConflicting classifications of pathogenicity
Select item 1196478	NM_173551.5(ANKS6):c.2511+252C>T	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1695470	NM_173551.5(ANKS6):c.2511+160del	ANKS6	Deletion (intron variant)	not provided	GLikely benign
Select item 1278700	NM_173551.5(ANKS6):c.2394+247C>G	ANKS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191653	NM_173551.5(ANKS6):c.2327-19del	ANKS6	Deletion (intron variant)	Nephronophthisis 16 +1 more	GBenign/Likely benign
Select item 1189981	NM_173551.5(ANKS6):c.2327-105T>C	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301171	NM_173551.5(ANKS6):c.2327-189G>A	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225207	NM_173551.5(ANKS6):c.2327-254CT[2]	ANKS6	Microsatellite (intron variant)	not provided	GBenign
Select item 1250485	NM_173551.5(ANKS6):c.2326+260G>A	ANKS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707149	NM_173551.5(ANKS6):c.2326+131T>C	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281148	NM_173551.5(ANKS6):c.2326+25C>A	ANKS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2430833	NM_173551.5(ANKS6):c.2270C>G (p.Ser757Cys)	ANKS6 (S757C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 262848	NM_173551.5(ANKS6):c.2203C>G (p.Pro735Ala)	ANKS6 (P735A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 579133	NM_173551.5(ANKS6):c.2197A>C (p.Thr733Pro)	ANKS6 (T733P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1216897	NM_173551.5(ANKS6):c.2143-37G>T	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178668	NM_173551.5(ANKS6):c.2143-235T>C	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 64356	NM_173551.5(ANKS6):c.1973-3C>G	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16 +1 more	GPathogenic/Likely pathogenic
Select item 1208588	NM_173551.5(ANKS6):c.1973-260C>T	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1333064	NM_173551.5(ANKS6):c.1972+202_1972+203del	ANKS6	Microsatellite (intron variant)	not provided	GLikely benign
Select item 262847	NM_173551.5(ANKS6):c.1930G>A (p.Val644Ile)	LOC124310614, ANKS6 (V644I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1217181	NM_173551.5(ANKS6):c.1822-94C>T	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263641	NM_173551.5(ANKS6):c.1822-197T>C	ANKS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263046	NM_173551.5(ANKS6):c.1822-215A>G	ANKS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1695438	NM_173551.5(ANKS6):c.1821+190G>A	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193323	NM_173551.5(ANKS6):c.1821+85G>A	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 474444	NM_173551.5(ANKS6):c.1782C>T (p.Ala594=)	ANKS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 262845	NM_173551.5(ANKS6):c.1767G>A (p.Ala589=)	ANKS6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1192473	NM_173551.5(ANKS6):c.1617+86C>T	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16 +1 more	GBenign
Select item 1180181	NM_173551.5(ANKS6):c.1617+38C>T	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706707	NM_173551.5(ANKS6):c.1568-40G>T	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251651	NM_173551.5(ANKS6):c.1568-129C>G	ANKS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202579	NM_173551.5(ANKS6):c.1568-170T>C	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2571959	NM_173551.5(ANKS6):c.1526G>A (p.Arg509His)	ANKS6 (R509H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 707351	NM_173551.5(ANKS6):c.1525C>A (p.Arg509Ser)	ANKS6 (R509S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2201472	NM_173551.5(ANKS6):c.1301T>C (p.Leu434Pro)	ANKS6 (L434P)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +2 more	GConflicting classifications of pathogenicity
Select item 503782	NM_173551.5(ANKS6):c.1301del (p.Leu434fs)	ANKS6 (L434fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1177923	NM_173551.5(ANKS6):c.1220-213G>A	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283699	NM_173551.5(ANKS6):c.1220-261A>G	ANKS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180276	NM_173551.5(ANKS6):c.1220-261A>T	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281716	NM_173551.5(ANKS6):c.1219+122T>C	ANKS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1695439	NM_173551.5(ANKS6):c.1219+21G>T	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257380	NM_173551.5(ANKS6):c.1112+149del	ANKS6	Deletion (intron variant)	not provided	GBenign
Select item 1205634	NM_173551.5(ANKS6):c.1112+148_1112+149del	ANKS6	Deletion (intron variant)	not provided	GLikely benign
Select item 1214667	NM_173551.5(ANKS6):c.1112+68C>T	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 968826	NM_173551.5(ANKS6):c.1099G>T (p.Ala367Ser)	ANKS6 (A367S)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +1 more	GUncertain significance
Select item 541406	NM_173551.5(ANKS6):c.1008G>A (p.Thr336=)	ANKS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1031715	NM_173551.5(ANKS6):c.968A>G (p.Asn323Ser)	ANKS6 (N323S)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +1 more	GUncertain significance
Select item 262859	NM_173551.5(ANKS6):c.937G>A (p.Asp313Asn)	ANKS6 (D313N)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1241525	NM_173551.5(ANKS6):c.908-139C>G	ANKS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259510	NM_173551.5(ANKS6):c.908-284_908-282del	ANKS6	Deletion (intron variant)	not provided	GBenign
Select item 1693374	NM_173551.5(ANKS6):c.904A>G (p.Met302Val)	ANKS6 (M302V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1213553	NM_173551.5(ANKS6):c.863-32G>A	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265185	NM_173551.5(ANKS6):c.863-253A>G	ANKS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246650	NM_173551.5(ANKS6):c.862+290C>T	ANKS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212140	NM_173551.5(ANKS6):c.862+133A>T	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3364035	NM_173551.5(ANKS6):c.832G>A (p.Asp278Asn)	ANKS6 (D278N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 778950	NM_173551.5(ANKS6):c.772G>C (p.Glu258Gln)	ANKS6 (E258Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 641730	NM_173551.5(ANKS6):c.664C>G (p.Arg222Gly)	ANKS6 (R222G)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +1 more	GUncertain significance
Select item 262856	NM_173551.5(ANKS6):c.664C>T (p.Arg222Trp)	ANKS6 (R222W)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 474454	NM_173551.5(ANKS6):c.658G>A (p.Ala220Thr)	ANKS6 (A220T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 262855	NM_173551.5(ANKS6):c.615C>T (p.Ala205=)	ANKS6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 262853	NM_173551.5(ANKS6):c.585G>A (p.Leu195=)	ANKS6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1026632	NM_173551.5(ANKS6):c.565C>G (p.Pro189Ala)	ANKS6 (P189A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1700504	NM_173551.5(ANKS6):c.564G>C (p.Glu188Asp)	ANKS6 (E188D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572821	NM_173551.5(ANKS6):c.446C>A (p.Thr149Asn)	ANKS6 (T149N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446563	NM_173551.5(ANKS6):c.431G>C (p.Gly144Ala)	ANKS6 (G144A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 658948	NM_173551.5(ANKS6):c.424C>T (p.Arg142Trp)	ANKS6 (R142W)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +1 more	GUncertain significance
Select item 388126	NM_173551.5(ANKS6):c.407A>C (p.Asp136Ala)	ANKS6 (D136A)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +1 more	GUncertain significance
Select item 1192474	NM_173551.5(ANKS6):c.360-67A>G	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16 +1 more	GBenign
Select item 1174201	NM_173551.5(ANKS6):c.360-126C>A	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16 +1 more	GBenign
Select item 1249746	NM_173551.5(ANKS6):c.359+179A>G	ANKS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262851	NM_173551.5(ANKS6):c.330C>T (p.Tyr110=)	ANKS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3363269	NM_173551.5(ANKS6):c.329A>G (p.Tyr110Cys)	ANKS6 (Y110C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 798171	NM_173551.5(ANKS6):c.281T>C (p.Val94Ala)	ANKS6 (V94A)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +2 more	GConflicting classifications of pathogenicity
Select item 938677	NM_173551.5(ANKS6):c.209C>G (p.Pro70Arg)	ANKS6 (P70R)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +1 more	GUncertain significance
Select item 262843	NM_173551.5(ANKS6):c.165C>T (p.Ala55=)	ANKS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1325997	NM_173551.5(ANKS6):c.155C>T (p.Ala52Val)	ANKS6 (A52V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 421840	NM_173551.5(ANKS6):c.134_151del (p.Ala45_Ala50del)	ANKS6	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1723581	NM_173551.5(ANKS6):c.23C>T (p.Pro8Leu)	ANKS6 (P8L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1229969	NM_173551.5(ANKS6):c.-1G>A	ANKS6	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1273136	NM_173551.5(ANKS6):c.-4G>T	ANKS6	Single nucleotide variant (5 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: 89