"PreventionGenetics, part of Exact Sciences"[submitter] AND "ANKK1"[ge - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3048636	NM_178510.2(ANKK1):c.181G>A (p.Ala61Thr)	ANKK1 (A61T)	Single nucleotide variant (missense variant)	ANKK1-related disorder	GLikely benign
Select item 768484	NM_178510.2(ANKK1):c.554G>A (p.Arg185Gln)	ANKK1 (R185Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 783648	NM_178510.2(ANKK1):c.633-1G>T	ANKK1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GBenign/Likely benign
Select item 3040827	NM_178510.2(ANKK1):c.682+10C>T	ANKK1	Single nucleotide variant (intron variant)	ANKK1-related disorder	GLikely benign
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 3041005	NM_178510.2(ANKK1):c.827C>T (p.Pro276Leu)	ANKK1 (P276L)	Single nucleotide variant (missense variant)	ANKK1-related disorder	GBenign
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 +1 more	GBenign
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 3045657	NM_178510.2(ANKK1):c.1284C>T (p.Gly428=)	ANKK1	Single nucleotide variant (synonymous variant)	ANKK1-related disorder	GLikely benign
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 3060675	NM_178510.2(ANKK1):c.1469A>G (p.His490Arg)	ANKK1 (H490R)	Single nucleotide variant (missense variant)	ANKK1-related disorder	GBenign
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 3045786	NM_178510.2(ANKK1):c.2031C>T (p.Asn677=)	ANKK1	Single nucleotide variant (synonymous variant)	ANKK1-related disorder	GLikely benign
Select item 790655	NM_178510.2(ANKK1):c.2058C>T (p.His686=)	ANKK1	Single nucleotide variant (synonymous variant)	not provided +1 more	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)	not specified +2 more	GBenign/Likely benign
Select item 3035701	NM_178510.2(ANKK1):c.*1A>G	ANKK1	Single nucleotide variant (3 prime UTR variant)	ANKK1-related disorder	GLikely benign

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Items: 20