"Ambry Genetics"[submitter] AND "BUB1B-PAK6"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1365106	NM_001211.6(BUB1B):c.2679A>G (p.Arg893=)	BUB1B-PAK6, BUB1B	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 2155957	NM_001211.6(BUB1B):c.2681T>A (p.Ile894Asn)	BUB1B, BUB1B-PAK6 (I894N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3221403	NM_001211.6(BUB1B):c.2682C>G (p.Ile894Met)	BUB1B, BUB1B-PAK6 (I894M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1794717	NM_001211.6(BUB1B):c.2685C>T (p.His895=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2624689	NM_001211.6(BUB1B):c.2686G>T (p.Asp896Tyr)	BUB1B, BUB1B-PAK6 (D896Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3221404	NM_001211.6(BUB1B):c.2690C>G (p.Pro897Arg)	BUB1B, BUB1B-PAK6 (P897R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3221405	NM_001211.6(BUB1B):c.2691C>T (p.Pro897=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 837582	NM_001211.6(BUB1B):c.2693A>G (p.Tyr898Cys)	BUB1B, BUB1B-PAK6 (Y898C)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1794835	NM_001211.6(BUB1B):c.2694T>C (p.Tyr898=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3221406	NM_001211.6(BUB1B):c.2696A>G (p.Asp899Gly)	BUB1B, BUB1B-PAK6 (D899G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1794954	NM_001211.6(BUB1B):c.2703C>T (p.Asn901=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 1 +1 more	GLikely benign
Select item 2585929	NM_001211.6(BUB1B):c.2706G>T (p.Lys902Asn)	BUB1B, BUB1B-PAK6 (K902N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1795006	NM_001211.6(BUB1B):c.2708A>G (p.Asn903Ser)	BUB1B, BUB1B-PAK6 (N903S)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 2560838	NM_001211.6(BUB1B):c.2711A>G (p.Asn904Ser)	BUB1B, BUB1B-PAK6 (N904S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262266	NM_001211.6(BUB1B):c.2717C>T (p.Ala906Val)	BUB1B, BUB1B-PAK6 (A906V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1795333	NM_001211.6(BUB1B):c.2735T>C (p.Phe912Ser)	BUB1B, BUB1B-PAK6 (F912S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1795484	NM_001211.6(BUB1B):c.2745T>C (p.Ser915=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1026235	NM_001211.6(BUB1B):c.2745T>A (p.Ser915Arg)	BUB1B, BUB1B-PAK6 (S915R)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 1795490	NM_001211.6(BUB1B):c.2746G>A (p.Val916Ile)	BUB1B, BUB1B-PAK6 (V916I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1795499	NM_001211.6(BUB1B):c.2747T>C (p.Val916Ala)	BUB1B, BUB1B-PAK6 (V916A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1795512	NM_001211.6(BUB1B):c.2748T>G (p.Val916=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2592459	NM_001211.6(BUB1B):c.2754T>C (p.Leu918=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1795610	NM_001211.6(BUB1B):c.2756G>A (p.Arg919Lys)	BUB1B-PAK6, BUB1B (R919K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262204	NM_001211.6(BUB1B):c.2759T>G (p.Val920Gly)	BUB1B, BUB1B-PAK6 (V920G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1079858	NM_001211.6(BUB1B):c.2760G>C (p.Val920=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2585927	NM_001211.6(BUB1B):c.2762A>C (p.Gln921Pro)	BUB1B, BUB1B-PAK6 (Q921P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 582237	NM_001211.6(BUB1B):c.2762A>T (p.Gln921Leu)	BUB1B, BUB1B-PAK6 (Q921L)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 1795717	NM_001211.6(BUB1B):c.2763G>A (p.Gln921=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 6762	NM_001211.6(BUB1B):c.2763G>C (p.Gln921His)	BUB1B, BUB1B-PAK6 (Q921H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1795723	NM_001211.6(BUB1B):c.2764C>T (p.Leu922=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1795757	NM_001211.6(BUB1B):c.2768A>G (p.Asp923Gly)	BUB1B, BUB1B-PAK6 (D923G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1000462	NM_001211.6(BUB1B):c.2777C>T (p.Thr926Ile)	BUB1B, BUB1B-PAK6 (T926I)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 3221407	NM_001211.6(BUB1B):c.2779C>T (p.Leu927Phe)	BUB1B, BUB1B-PAK6 (L927F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1795882	NM_001211.6(BUB1B):c.2779C>G (p.Leu927Val)	BUB1B, BUB1B-PAK6 (L927V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1795935	NM_001211.6(BUB1B):c.2781C>T (p.Leu927=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1795931	NM_001211.6(BUB1B):c.2781C>G (p.Leu927=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1795945	NM_001211.6(BUB1B):c.2782A>G (p.Ser928Gly)	BUB1B, BUB1B-PAK6 (S928G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 962624	NM_001211.6(BUB1B):c.2783G>C (p.Ser928Thr)	BUB1B, BUB1B-PAK6 (S928T)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 465376	NM_001211.6(BUB1B):c.2784C>T (p.Ser928=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 403742	NM_001211.6(BUB1B):c.2785G>A (p.Gly929Ser)	BUB1B, BUB1B-PAK6 (G929S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3262234	NM_001211.6(BUB1B):c.2786G>T (p.Gly929Val)	BUB1B, BUB1B-PAK6 (G929V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262235	NM_001211.6(BUB1B):c.2787C>T (p.Gly929=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1001856	NM_001211.6(BUB1B):c.2791C>T (p.Arg931Trp)	BUB1B, BUB1B-PAK6 (R931W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 938039	NM_001211.6(BUB1B):c.2792G>C (p.Arg931Pro)	BUB1B, BUB1B-PAK6 (R931P)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 658305	NM_001211.6(BUB1B):c.2792G>A (p.Arg931Gln)	BUB1B, BUB1B-PAK6 (R931Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1796080	NM_001211.6(BUB1B):c.2794A>G (p.Thr932Ala)	BUB1B, BUB1B-PAK6 (T932A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262198	NM_001211.6(BUB1B):c.2797G>T (p.Val933Leu)	BUB1B, BUB1B-PAK6 (V933L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1796102	NM_001211.6(BUB1B):c.2797G>A (p.Val933Ile)	BUB1B-PAK6, BUB1B (V933I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 762548	NM_001211.6(BUB1B):c.2799A>G (p.Val933=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1796234	NM_001211.6(BUB1B):c.2802G>C (p.Gln934His)	BUB1B, BUB1B-PAK6 (Q934H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1796251	NM_001211.6(BUB1B):c.2804T>C (p.Ile935Thr)	BUB1B, BUB1B-PAK6 (I935T)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 654354	NM_001211.6(BUB1B):c.2805C>G (p.Ile935Met)	BUB1B, BUB1B-PAK6 (I935M)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 1796270	NM_001211.6(BUB1B):c.2806C>T (p.Leu936=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1796289	NM_001211.6(BUB1B):c.2808G>T (p.Leu936=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1796298	NM_001211.6(BUB1B):c.2809G>A (p.Glu937Lys)	BUB1B, BUB1B-PAK6 (E937K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1796333	NM_001211.6(BUB1B):c.2811A>C (p.Glu937Asp)	BUB1B, BUB1B-PAK6 (E937D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262253	NM_001211.6(BUB1B):c.2812G>A (p.Gly938Arg)	BUB1B, BUB1B-PAK6 (G938R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1650162	NM_001211.6(BUB1B):c.2817A>G (p.Gln939=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2179784	NM_001211.6(BUB1B):c.2820G>A (p.Lys940=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1796447	NM_001211.6(BUB1B):c.2820G>T (p.Lys940Asn)	BUB1B, BUB1B-PAK6 (K940N)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 1796514	NM_001211.6(BUB1B):c.2827G>A (p.Ala943Thr)	BUB1B, BUB1B-PAK6 (A943T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2497656	NM_001211.6(BUB1B):c.2828C>G (p.Ala943Gly)	BUB1B-PAK6, BUB1B (A943G)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 2158365	NM_001211.6(BUB1B):c.2829T>C (p.Ala943=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 1 +1 more	GLikely benign
Select item 1796540	NM_001211.6(BUB1B):c.2829T>A (p.Ala943=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1796679	NM_001211.6(BUB1B):c.2838T>G (p.Ser946=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3221408	NM_001211.6(BUB1B):c.2844C>T (p.Pro948=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1796771	NM_001211.6(BUB1B):c.2846A>G (p.Tyr949Cys)	BUB1B, BUB1B-PAK6 (Y949C)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1109153	NM_001211.6(BUB1B):c.2849A>G (p.Gln950Arg)	BUB1B, BUB1B-PAK6 (Q950R)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1796845	NM_001211.6(BUB1B):c.2851G>A (p.Val951Ile)	BUB1B, BUB1B-PAK6 (V951I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1674779	NM_001211.6(BUB1B):c.2862T>C (p.Phe954=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1796988	NM_001211.6(BUB1B):c.2864G>A (p.Gly955Asp)	BUB1B, BUB1B-PAK6 (G955D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 403752	NM_001211.6(BUB1B):c.2866A>G (p.Ile956Val)	BUB1B, BUB1B-PAK6 (I956V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3221409	NM_001211.6(BUB1B):c.2876T>C (p.Leu959Ser)	BUB1B, BUB1B-PAK6 (L959S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1797220	NM_001211.6(BUB1B):c.2886A>G (p.Leu962=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2497651	NM_001211.6(BUB1B):c.2888T>C (p.Leu963Pro)	BUB1B, BUB1B-PAK6 (L963P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262222	NM_001211.6(BUB1B):c.2896A>G (p.Lys966Glu)	BUB1B, BUB1B-PAK6 (K966E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3221410	NM_001211.6(BUB1B):c.2898G>T (p.Lys966Asn)	BUB1B, BUB1B-PAK6 (K966N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1797456	NM_001211.6(BUB1B):c.2901A>G (p.Glu967=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 659372	NM_001211.6(BUB1B):c.2901A>T (p.Glu967Asp)	BUB1B, BUB1B-PAK6 (E967D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3262221	NM_001211.6(BUB1B):c.2904C>T (p.His968=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2497647	NM_001211.6(BUB1B):c.2904C>G (p.His968Gln)	BUB1B, BUB1B-PAK6 (H968Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1008939	NM_001211.6(BUB1B):c.2904C>A (p.His968Gln)	BUB1B, BUB1B-PAK6 (H968Q)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 1797499	NM_001211.6(BUB1B):c.2905C>T (p.Leu969=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1797539	NM_001211.6(BUB1B):c.2909A>C (p.Gln970Pro)	BUB1B, BUB1B-PAK6 (Q970P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3221411	NM_001211.6(BUB1B):c.2910G>A (p.Gln970=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1797581	NM_001211.6(BUB1B):c.2910G>T (p.Gln970His)	BUB1B, BUB1B-PAK6 (Q970H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2565439	NM_001211.6(BUB1B):c.2912T>C (p.Val971Ala)	BUB1B, BUB1B-PAK6 (V971A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3221412	NM_001211.6(BUB1B):c.2913C>G (p.Val971=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1797764	NM_001211.6(BUB1B):c.2928C>T (p.Ser976=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2450845	NM_001211.6(BUB1B):c.2930T>C (p.Phe977Ser)	BUB1B, BUB1B-PAK6 (F977S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2450821	NM_001211.6(BUB1B):c.2931C>A (p.Phe977Leu)	BUB1B, BUB1B-PAK6 (F977L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1797822	NM_001211.6(BUB1B):c.2931C>T (p.Phe977=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2565471	NM_001211.6(BUB1B):c.2942G>A (p.Ser981Asn)	BUB1B, BUB1B-PAK6 (S981N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3221414	NM_001211.6(BUB1B):c.2947A>G (p.Asn983Asp)	BUB1B, BUB1B-PAK6 (N983D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1798093	NM_001211.6(BUB1B):c.2954C>T (p.Ser985Phe)	BUB1B, BUB1B-PAK6 (S985F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1798109	NM_001211.6(BUB1B):c.2956G>C (p.Glu986Gln)	BUB1B, BUB1B-PAK6 (E986Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262211	NM_001211.6(BUB1B):c.2967T>C (p.Asp989=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2450835	NM_001211.6(BUB1B):c.2969G>A (p.Gly990Asp)	BUB1B, BUB1B-PAK6 (G990D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1798293	NM_001211.6(BUB1B):c.2971G>A (p.Glu991Lys)	BUB1B, BUB1B-PAK6 (E991K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 403747	NM_001211.6(BUB1B):c.2979G>T (p.Trp993Cys)	BUB1B, BUB1B-PAK6 (W993C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

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