Related gene-specific medical variations for Gene (Select 701) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3262264	NM_001211.6(BUB1B):c.3025G>T (p.Val1009Leu)	BUB1B, BUB1B-PAK6 (V1009L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262261	NM_001211.6(BUB1B):c.3098A>G (p.Lys1033Arg)	BUB1B, BUB1B-PAK6 (K1033R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262256	NM_001211.6(BUB1B):c.3047C>A (p.Ala1016Glu)	BUB1B, BUB1B-PAK6 (A1016E)	Single nucleotide variant (missense 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 3262245	NM_001211.6(BUB1B):c.3131C>G (p.Pro1044Arg)	BUB1B, BUB1B-PAK6 (P1044R)	Single nucleotide variant (missense 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 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 3262230	NM_001211.6(BUB1B):c.32T>A (p.Leu11Gln)	BUB1B, LOC130056830 (L11Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262227	NM_001211.6(BUB1B):c.3037G>C (p.Gly1013Arg)	BUB1B, BUB1B-PAK6 (G1013R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3262223	NM_001211.6(BUB1B):c.3135G>C (p.Gly1045=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
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 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 3262215	NM_001211.6(BUB1B):c.3124A>T (p.Thr1042Ser)	BUB1B, BUB1B-PAK6 (T1042S)	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 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 3262202	NM_001211.6(BUB1B):c.3048A>G (p.Ala1016=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
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 3243778	NC_000015.9:g.(?_40500828)_(40502421_?)del	BUB1B	Deletion	Mosaic variegated aneuploidy syndrome 1	GPathogenic
Select item 3243777	NC_000015.9:g.(?_40500828)_(40500981_?)del	BUB1B	Deletion	Mosaic variegated aneuploidy syndrome 1	GPathogenic
Select item 3221424	NM_001211.6(BUB1B):c.3134G>A (p.Gly1045Glu)	BUB1B, BUB1B-PAK6 (G1045E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3221423	NM_001211.6(BUB1B):c.3127A>T (p.Ser1043Cys)	BUB1B, BUB1B-PAK6 (S1043C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3221422	NM_001211.6(BUB1B):c.3125C>T (p.Thr1042Ile)	BUB1B, BUB1B-PAK6 (T1042I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3221421	NM_001211.6(BUB1B):c.3117G>A (p.Gly1039=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3221420	NM_001211.6(BUB1B):c.3116G>A (p.Gly1039Glu)	BUB1B, BUB1B-PAK6 (G1039E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3221419	NM_001211.6(BUB1B):c.3026T>G (p.Val1009Gly)	BUB1B, BUB1B-PAK6 (V1009G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3221417	NM_001211.6(BUB1B):c.3013G>A (p.Asp1005Asn)	BUB1B, BUB1B-PAK6 (D1005N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3221416	NM_001211.6(BUB1B):c.3012T>C (p.Asn1004=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3221415	NM_001211.6(BUB1B):c.3007G>A (p.Ala1003Thr)	BUB1B, BUB1B-PAK6 (A1003T)	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 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 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 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 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 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 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 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 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 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 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 3221397	NM_001211.6(BUB1B):c.25G>A (p.Gly9Ser)	BUB1B, LOC130056830 (G9S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221382	NM_001211.6(BUB1B):c.22G>C (p.Gly8Arg)	BUB1B, LOC130056830 (G8R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3000957	NM_001211.6(BUB1B):c.3029C>G (p.Ser1010Cys)	BUB1B, BUB1B-PAK6 (S1010C)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2984430	NM_001211.6(BUB1B):c.26G>A (p.Gly9Asp)	BUB1B, LOC130056830 (G9D)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2974293	NM_001211.6(BUB1B):c.2851-14T>C	BUB1B, BUB1B-PAK6	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2964932	NM_001211.6(BUB1B):c.29C>T (p.Ala10Val)	BUB1B, LOC130056830 (A10V)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2959462	NM_001211.6(BUB1B):c.2706G>C (p.Lys902Asn)	BUB1B, BUB1B-PAK6 (K902N)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2886941	NM_001211.6(BUB1B):c.2957+5G>A	BUB1B, BUB1B-PAK6	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2858979	NM_001211.6(BUB1B):c.2921A>C (p.Asp974Ala)	BUB1B, BUB1B-PAK6 (D974A)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2820924	NM_001211.6(BUB1B):c.2896A>T (p.Lys966Ter)	BUB1B, BUB1B-PAK6 (K966*)	Single nucleotide variant (nonsense +1 more)	Mosaic variegated aneuploidy syndrome 1	GPathogenic
Select item 2756909	NM_001211.6(BUB1B):c.3045T>C (p.Leu1015=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2752270	NM_001211.6(BUB1B):c.2885T>C (p.Leu962Ser)	BUB1B, BUB1B-PAK6 (L962S)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2727522	NM_001211.6(BUB1B):c.2850+18C>T	BUB1B, BUB1B-PAK6	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2690554	NM_001211.6(BUB1B):c.948_966del19 (p.Arg317fs)	BUB1B (R317fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2680364	NM_001211.6(BUB1B):c.581G>C (p.Arg194Pro)	BUB1B (R194P)	Single nucleotide variant (missense variant)	Premature chromatid separation trait	GUncertain significance
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 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 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 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 2565474	NM_001211.6(BUB1B):c.3056T>C (p.Met1019Thr)	BUB1B, BUB1B-PAK6 (M1019T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2565464	NM_001211.6(BUB1B):c.3144C>G (p.Leu1048=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
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 2562091	NM_001211.6(BUB1B):c.3088C>T (p.His1030Tyr)	BUB1B, BUB1B-PAK6 (H1030Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2497664	NM_001211.6(BUB1B):c.3061G>A (p.Gly1021Arg)	BUB1B, BUB1B-PAK6 (G1021R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 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 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 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 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 2445267	NM_001211.6(BUB1B):c.3119A>G (p.Lys1040Arg)	BUB1B, BUB1B-PAK6 (K1040R)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer	GBenign
Select item 2439583	NM_001211.6(BUB1B):c.727A>G (p.Ile243Val)	BUB1B (I243V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2307620	NM_001211.6(BUB1B):c.35+4G>T	BUB1B, LOC130056830	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1 +1 more	GUncertain significance
Select item 2250495	NM_001211.6(BUB1B):c.3031G>T (p.Val1011Phe)	BUB1B, BUB1B-PAK6 (V1011F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 2130229	NM_001211.6(BUB1B):c.3107G>T (p.Trp1036Leu)	BUB1B, BUB1B-PAK6 (W1036L)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2124256	NM_001211.6(BUB1B):c.2902C>T (p.His968Tyr)	BUB1B, BUB1B-PAK6 (H968Y)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2107523	NM_001211.6(BUB1B):c.22G>T (p.Gly8Trp)	BUB1B, LOC130056830 (G8W)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 2038011	NM_001211.6(BUB1B):c.2957+19C>T	BUB1B, BUB1B-PAK6	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 2003743	NM_001211.6(BUB1B):c.2828C>T (p.Ala943Val)	BUB1B, BUB1B-PAK6 (A943V)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 1998138	NM_001211.6(BUB1B):c.2737T>G (p.Ser913Ala)	BUB1B, BUB1B-PAK6 (S913A)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 1997644	NM_001211.6(BUB1B):c.2851-5T>C	BUB1B, BUB1B-PAK6	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 1981799	NM_001211.6(BUB1B):c.2958-13T>A	BUB1B, BUB1B-PAK6	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 1	GLikely benign
Select item 1980347	NM_001211.6(BUB1B):c.2848C>T (p.Gln950Ter)	BUB1B, BUB1B-PAK6 (Q950*)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 1	GPathogenic
Select item 1966674	NM_001211.6(BUB1B):c.2820G>C (p.Lys940Asn)	BUB1B, BUB1B-PAK6 (K940N)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 1941928	NM_001211.6(BUB1B):c.3149A>G (p.Gln1050Arg)	BUB1B, BUB1B-PAK6 (Q1050R)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 1898776	NM_001211.6(BUB1B):c.32T>G (p.Leu11Arg)	BUB1B, LOC130056830 (L11R)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 1799498	NM_001211.6(BUB1B):c.3070G>C (p.Asp1024His)	BUB1B, BUB1B-PAK6 (D1024H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1799454	NM_001211.6(BUB1B):c.3069T>C (p.Phe1023=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1799422	NM_001211.6(BUB1B):c.3065T>A (p.Val1022Asp)	BUB1B, BUB1B-PAK6 (V1022D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1799399	NM_001211.6(BUB1B):c.3063G>C (p.Gly1021=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1799396	NM_001211.6(BUB1B):c.3063G>A (p.Gly1021=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1799389	NM_001211.6(BUB1B):c.3062G>C (p.Gly1021Ala)	BUB1B, BUB1B-PAK6 (G1021A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1799267	NM_001211.6(BUB1B):c.3050C>G (p.Ala1017Gly)	BUB1B, BUB1B-PAK6 (A1017G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1799172	NM_001211.6(BUB1B):c.3042G>A (p.Glu1014=)	BUB1B, BUB1B-PAK6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1799108	NM_001211.6(BUB1B):c.3038G>C (p.Gly1013Ala)	BUB1B, BUB1B-PAK6 (G1013A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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