ANKK1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 3044435	NM_178510.2(ANKK1):c.10G>T (p.Asp4Tyr)	ANKK1 (D4Y)	Single nucleotide variant (missense variant)	ANKK1-related disorder	GLikely benign
Select item 3121283	NM_178510.2(ANKK1):c.23T>G (p.Leu8Arg)	ANKK1 (L8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664563	NM_178510.2(ANKK1):c.96_106del (p.Phe33fs)	ANKK1 (F33fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2356841	NM_178510.2(ANKK1):c.113A>T (p.Gln38Leu)	ANKK1 (Q38L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295849	NM_178510.2(ANKK1):c.116C>A (p.Ala39Glu)	ANKK1 (A39E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520016	NM_178510.2(ANKK1):c.127C>G (p.Arg43Gly)	ANKK1 (R43G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328546	NM_178510.2(ANKK1):c.173C>G (p.Pro58Arg)	ANKK1 (P58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048636	NM_178510.2(ANKK1):c.181G>A (p.Ala61Thr)	ANKK1 (A61T)	Single nucleotide variant (missense variant)	ANKK1-related disorder	GLikely benign
Select item 2310369	NM_178510.2(ANKK1):c.209A>G (p.Glu70Gly)	ANKK1 (E70G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401131	NM_178510.2(ANKK1):c.227A>G (p.Lys76Arg)	ANKK1 (K76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568845	NM_178510.2(ANKK1):c.310G>A (p.Gly104Ser)	ANKK1 (G104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121295	NM_178510.2(ANKK1):c.370A>G (p.Ile124Val)	ANKK1 (I124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331777	NM_178510.2(ANKK1):c.446G>A (p.Gly149Asp)	ANKK1 (G149D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782301	NM_178510.2(ANKK1):c.450C>T (p.Asn150=)	ANKK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2605422	NM_178510.2(ANKK1):c.451A>G (p.Ile151Val)	ANKK1 (I151V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313448	NM_178510.2(ANKK1):c.491T>G (p.Phe164Cys)	ANKK1 (F164C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260339	NM_178510.2(ANKK1):c.545C>T (p.Ser182Leu)	ANKK1 (S182L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785383	NM_178510.2(ANKK1):c.546G>A (p.Ser182=)	ANKK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2543194	NM_178510.2(ANKK1):c.550C>G (p.Leu184Val)	ANKK1 (L184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768484	NM_178510.2(ANKK1):c.554G>A (p.Arg185Gln)	ANKK1 (R185Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2331643	NM_178510.2(ANKK1):c.569A>G (p.Tyr190Cys)	ANKK1 (Y190C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262601	NM_178510.2(ANKK1):c.610G>A (p.Gly204Arg)	ANKK1 (G204R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288616	NM_178510.2(ANKK1):c.622G>T (p.Asp208Tyr)	ANKK1 (D208Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783648	NM_178510.2(ANKK1):c.633-1G>T	ANKK1	Single nucleotide variant (splice acceptor variant)	not provided	GBenign
Select item 2302000	NM_178510.2(ANKK1):c.640A>G (p.Ile214Val)	ANKK1 (I214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121326	NM_178510.2(ANKK1):c.641T>C (p.Ile214Thr)	ANKK1 (I214T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040827	NM_178510.2(ANKK1):c.682+10C>T	ANKK1	Single nucleotide variant (intron variant)	ANKK1-related disorder	GLikely benign
Select item 2601048	NM_178510.2(ANKK1):c.683G>A (p.Gly228Glu)	ANKK1 (G228E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121334	NM_178510.2(ANKK1):c.693G>A (p.Met231Ile)	ANKK1 (M231I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060698	NM_178510.2(ANKK1):c.715G>A (p.Ala239Thr)	ANKK1 (A239T)	Single nucleotide variant (missense variant)	ANKK1-related disorder	GBenign
Select item 638474	NM_178510.2(ANKK1):c.766G>A (p.Glu256Lys)	ANKK1 (E256K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121337	NM_178510.2(ANKK1):c.812A>G (p.Asp271Gly)	ANKK1 (D271G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121343	NM_178510.2(ANKK1):c.815C>G (p.Pro272Arg)	ANKK1 (P272R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3350244	NM_178510.2(ANKK1):c.822G>A (p.Lys274=)	ANKK1	Single nucleotide variant (synonymous variant)	ANKK1-related disorder	GLikely benign
Select item 3121345	NM_178510.2(ANKK1):c.826C>G (p.Pro276Ala)	ANKK1 (P276A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041005	NM_178510.2(ANKK1):c.827C>T (p.Pro276Leu)	ANKK1 (P276L)	Single nucleotide variant (missense variant)	ANKK1-related disorder	GBenign
Select item 789315	NM_178510.2(ANKK1):c.840C>A (p.Asp280Glu)	ANKK1 (D280E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2464818	NM_178510.2(ANKK1):c.902G>A (p.Ser301Asn)	ANKK1 (S301N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034875	NM_178510.2(ANKK1):c.943C>T (p.Arg315Cys)	ANKK1 (R315C)	Single nucleotide variant (missense variant)	ANKK1-related disorder	GBenign
Select item 3060965	NM_178510.2(ANKK1):c.952G>A (p.Gly318Arg)	ANKK1 (G318R)	Single nucleotide variant (missense variant)	ANKK1-related disorder	GBenign
Select item 785384	NM_178510.2(ANKK1):c.995-7C>G	ANKK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2462957	NM_178510.2(ANKK1):c.1016G>A (p.Arg339Gln)	ANKK1 (R339Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206106	NM_178510.2(ANKK1):c.1027C>T (p.Leu343Phe)	ANKK1 (L343F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741979	NM_178510.2(ANKK1):c.1033G>A (p.Asp345Asn)	ANKK1 (D345N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2516453	NM_178510.2(ANKK1):c.1036C>T (p.Arg346Cys)	ANKK1 (R346C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2256906	NM_178510.2(ANKK1):c.1118G>T (p.Gly373Val)	ANKK1 (G373V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711561	NM_178510.2(ANKK1):c.1161C>T (p.Asp387=)	ANKK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2492215	NM_178510.2(ANKK1):c.1175C>A (p.Thr392Lys)	ANKK1 (T392K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041490	NM_178510.2(ANKK1):c.1188C>T (p.Tyr396=)	ANKK1	Single nucleotide variant (synonymous variant)	ANKK1-related disorder	GLikely benign
Select item 2320809	NM_178510.2(ANKK1):c.1240C>T (p.Leu414Phe)	ANKK1 (L414F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483281	NM_178510.2(ANKK1):c.1251T>A (p.His417Gln)	ANKK1 (H417Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121194	NM_178510.2(ANKK1):c.1266C>G (p.Asn422Lys)	ANKK1 (N422K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045657	NM_178510.2(ANKK1):c.1284C>T (p.Gly428=)	ANKK1	Single nucleotide variant (synonymous variant)	ANKK1-related disorder	GLikely benign
Select item 3121203	NM_178510.2(ANKK1):c.1320T>A (p.Asp440Glu)	ANKK1 (D440E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777653	NM_178510.2(ANKK1):c.1324G>T (p.Gly442Cys)	ANKK1 (G442C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3035757	NM_178510.2(ANKK1):c.1350C>T (p.His450=)	ANKK1	Single nucleotide variant (synonymous variant)	ANKK1-related disorder	GLikely benign
Select item 3121206	NM_178510.2(ANKK1):c.1375C>T (p.Arg459Cys)	ANKK1 (R459C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214438	NM_178510.2(ANKK1):c.1376G>A (p.Arg459His)	ANKK1 (R459H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3121214	NM_178510.2(ANKK1):c.1382G>A (p.Gly461Glu)	ANKK1 (G461E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360572	NM_178510.2(ANKK1):c.1448G>A (p.Arg483His)	ANKK1 (R483H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295868	NM_178510.2(ANKK1):c.1453G>T (p.Ala485Ser)	ANKK1 (A485S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326555	NM_178510.2(ANKK1):c.1458C>A (p.Asp486Glu)	ANKK1 (D486E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060675	NM_178510.2(ANKK1):c.1469A>G (p.His490Arg)	ANKK1 (H490R)	Single nucleotide variant (missense variant)	ANKK1-related disorder	GBenign
Select item 3121224	NM_178510.2(ANKK1):c.1544G>T (p.Ser515Ile)	ANKK1 (S515I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121229	NM_178510.2(ANKK1):c.1548G>C (p.Gln516His)	ANKK1 (Q516H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292632	NM_178510.2(ANKK1):c.1548G>T (p.Gln516His)	ANKK1 (Q516H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551574	NM_178510.2(ANKK1):c.1569G>C (p.Gln523His)	ANKK1 (Q523H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664630	NM_178510.2(ANKK1):c.1652C>A (p.Ala551Glu)	ANKK1 (A551E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3055464	NM_178510.2(ANKK1):c.1653G>A (p.Ala551=)	ANKK1	Single nucleotide variant (synonymous variant)	ANKK1-related disorder	GLikely benign
Select item 716426	NM_178510.2(ANKK1):c.1677C>T (p.Ser559=)	ANKK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2528356	NM_178510.2(ANKK1):c.1700C>T (p.Ala567Val)	ANKK1 (A567V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463109	NM_178510.2(ANKK1):c.1741A>G (p.Arg581Gly)	ANKK1 (R581G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205170	NM_178510.2(ANKK1):c.1750G>A (p.Ala584Thr)	ANKK1 (A584T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716427	NM_178510.2(ANKK1):c.1759G>T (p.Glu587Ter)	ANKK1 (E587*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 3121236	NM_178510.2(ANKK1):c.1781G>T (p.Trp594Leu)	ANKK1 (W594L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777654	NM_178510.2(ANKK1):c.1787C>T (p.Pro596Leu)	ANKK1 (P596L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2226468	NM_178510.2(ANKK1):c.1809G>T (p.Lys603Asn)	ANKK1 (K603N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121244	NM_178510.2(ANKK1):c.1865T>C (p.Leu622Pro)	ANKK1 (L622P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2309117	NM_178510.2(ANKK1):c.1904G>A (p.Arg635His)	ANKK1 (R635H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121250	NM_178510.2(ANKK1):c.1919C>T (p.Ala640Val)	ANKK1 (A640V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3121254	NM_178510.2(ANKK1):c.1958A>G (p.Asn653Ser)	ANKK1 (N653S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045786	NM_178510.2(ANKK1):c.2031C>T (p.Asn677=)	ANKK1	Single nucleotide variant (synonymous variant)	ANKK1-related disorder	GLikely benign
Select item 2225304	NM_178510.2(ANKK1):c.2043T>G (p.His681Gln)	ANKK1 (H681Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790655	NM_178510.2(ANKK1):c.2058C>T (p.His686=)	ANKK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3048242	NM_178510.2(ANKK1):c.2086G>A (p.Ala696Thr)	ANKK1 (A696T)	Single nucleotide variant (missense variant)	ANKK1-related disorder	GLikely benign
Select item 2105	NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys)	ANKK1 (E713K)	Single nucleotide variant (missense variant)	Schizophrenia +2 more	GBenign
Select item 2320810	NM_178510.2(ANKK1):c.2147C>T (p.Ala716Val)	ANKK1 (A716V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475138	NM_178510.2(ANKK1):c.2163G>T (p.Gln721His)	ANKK1 (Q721H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121267	NM_178510.2(ANKK1):c.2173A>G (p.Ser725Gly)	ANKK1 (S725G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2210112	NM_178510.2(ANKK1):c.2207G>A (p.Arg736Gln)	ANKK1 (R736Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466923	NM_178510.2(ANKK1):c.2246C>T (p.Pro749Leu)	ANKK1 (P749L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2204490	NM_178510.2(ANKK1):c.2254G>A (p.Ala752Thr)	ANKK1 (A752T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326992	NM_178510.2(ANKK1):c.2284G>A (p.Glu762Lys)	ANKK1 (E762K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035701	NM_178510.2(ANKK1):c.*1A>G	ANKK1	Single nucleotide variant (3 prime UTR variant)	ANKK1-related disorder	GLikely benign
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic

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