Related gene-specific medical variations for Gene (Select 84142) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334761	NM_139076.3(ABRAXAS1):c.84C>A (p.Asp28Glu)	ABRAXAS1, LOC129992784 (D28E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3333774	NM_139076.3(ABRAXAS1):c.42G>A (p.Val14=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3333020	NM_139076.3(ABRAXAS1):c.17C>A (p.Thr6Lys)	ABRAXAS1, LOC129992784 (T6K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3332637	NM_139076.3(ABRAXAS1):c.62A>G (p.Gln21Arg)	ABRAXAS1, LOC129992784 (Q21R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3332031	NM_139076.3(ABRAXAS1):c.74C>G (p.Thr25Arg)	ABRAXAS1, LOC129992784 (T25R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3246777	NC_000004.11:g.(?_84391526)_(84391832_?)del	ABRAXAS1	Deletion	not provided	GUncertain significance
Select item 3246776	NC_000004.11:g.(?_84383622)_(84406225_?)del	ABRAXAS1	Deletion	not provided	GUncertain significance
Select item 3229153	NM_139076.3(ABRAXAS1):c.59T>C (p.Phe20Ser)	ABRAXAS1, LOC129992784 (F20S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3229148	NM_139076.3(ABRAXAS1):c.40G>T (p.Val14Leu)	ABRAXAS1, LOC129992784 (V14L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3229145	NM_139076.3(ABRAXAS1):c.23C>G (p.Ala8Gly)	ABRAXAS1, LOC129992784 (A8G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3229141	NM_139076.3(ABRAXAS1):c.19T>C (p.Ser7Pro)	ABRAXAS1, LOC129992784 (S7P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3010806	NM_139076.3(ABRAXAS1):c.12_14delinsTAT (p.Glu4_Ser5delinsAspIle)	ABRAXAS1, LOC129992784	Indel (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2996385	NM_139076.3(ABRAXAS1):c.76G>C (p.Asp26His)	ABRAXAS1, LOC129992784 (D26H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2900871	NM_139076.3(ABRAXAS1):c.87+14C>T	ABRAXAS1, LOC129992784	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873835	NM_139076.3(ABRAXAS1):c.80C>T (p.Ser27Leu)	ABRAXAS1, LOC129992784 (S27L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2821916	NM_139076.3(ABRAXAS1):c.49G>C (p.Ala17Pro)	ABRAXAS1, LOC129992784 (A17P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 2715078	NM_139076.3(ABRAXAS1):c.5A>T (p.Glu2Val)	ABRAXAS1, LOC129992784 (E2V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2691454	NM_139076.3(ABRAXAS1):c.-9G>A	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2625949	NM_139076.3(ABRAXAS1):c.50C>T (p.Ala17Val)	ABRAXAS1, LOC129992784 (A17V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2625940	NM_139076.3(ABRAXAS1):c.16A>C (p.Thr6Pro)	ABRAXAS1, LOC129992784 (T6P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2624489	NM_139076.3(ABRAXAS1):c.46G>C (p.Gly16Arg)	ABRAXAS1, LOC129992784 (G16R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2563991	NM_139076.3(ABRAXAS1):c.73A>G (p.Thr25Ala)	ABRAXAS1, LOC129992784 (T25A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2560575	NM_139076.3(ABRAXAS1):c.48C>T (p.Gly16=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2560573	NM_139076.3(ABRAXAS1):c.19T>G (p.Ser7Ala)	ABRAXAS1, LOC129992784 (S7A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2450258	NM_139076.3(ABRAXAS1):c.9G>T (p.Gly3=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2450249	NM_139076.3(ABRAXAS1):c.85A>T (p.Thr29Ser)	ABRAXAS1, LOC129992784 (T29S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2450191	NM_139076.3(ABRAXAS1):c.23C>A (p.Ala8Glu)	ABRAXAS1, LOC129992784 (A8E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2419954	NM_139076.3(ABRAXAS1):c.3G>C (p.Met1Ile)	ABRAXAS1, LOC129992784 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2391445	NM_016067.4(MRPS18C):c.250G>A (p.Val84Ile)	ABRAXAS1, MRPS18C (V84I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2338297	NM_016067.4(MRPS18C):c.416G>C (p.Arg139Thr)	ABRAXAS1, MRPS18C (R111T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321699	NM_016067.4(MRPS18C):c.350T>C (p.Met117Thr)	ABRAXAS1, MRPS18C (M117T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305937	NM_016067.4(MRPS18C):c.417A>T (p.Arg139Ser)	ABRAXAS1, MRPS18C (R139S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250704	NM_016067.4(MRPS18C):c.376G>A (p.Asp126Asn)	ABRAXAS1, MRPS18C (D98N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2183059	NM_139076.3(ABRAXAS1):c.87+5G>A	ABRAXAS1, LOC129992784	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2172614	NM_139076.3(ABRAXAS1):c.18G>T (p.Thr6=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 2140942	NM_139076.3(ABRAXAS1):c.87+11G>A	ABRAXAS1, LOC129992784	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2042784	NM_139076.3(ABRAXAS1):c.11A>G (p.Glu4Gly)	ABRAXAS1, LOC129992784 (E4G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2035845	NM_139076.3(ABRAXAS1):c.31T>C (p.Ser11Pro)	ABRAXAS1, LOC129992784 (S11P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1804853	NM_139076.3(ABRAXAS1):c.-8G>A	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1800444	NM_139076.3(ABRAXAS1):c.42G>T (p.Val14=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1800426	NM_139076.3(ABRAXAS1):c.21G>C (p.Ser7=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1800408	NM_139076.3(ABRAXAS1):c.43C>T (p.Leu15Phe)	LOC129992784, ABRAXAS1 (L15F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1800406	NM_139076.3(ABRAXAS1):c.51A>G (p.Ala17=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1800382	NM_139076.3(ABRAXAS1):c.86C>T (p.Thr29Met)	LOC129992784, ABRAXAS1 (T29M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1800379	NM_139076.3(ABRAXAS1):c.4G>A (p.Glu2Lys)	ABRAXAS1, LOC129992784 (E2K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1800377	NM_139076.3(ABRAXAS1):c.71A>G (p.Asn24Ser)	ABRAXAS1, LOC129992784 (N24S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1800376	NM_139076.3(ABRAXAS1):c.13A>C (p.Ser5Arg)	ABRAXAS1, LOC129992784 (S5R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1800358	NM_139076.3(ABRAXAS1):c.56C>G (p.Ala19Gly)	ABRAXAS1, LOC129992784 (A19G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1800344	NM_139076.3(ABRAXAS1):c.25G>A (p.Val9Met)	ABRAXAS1, LOC129992784 (V9M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1800333	NM_139076.3(ABRAXAS1):c.44T>C (p.Leu15Pro)	ABRAXAS1, LOC129992784 (L15P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1800211	NM_139076.3(ABRAXAS1):c.24G>T (p.Ala8=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1800145	NM_139076.3(ABRAXAS1):c.48C>G (p.Gly16=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1800142	NM_139076.3(ABRAXAS1):c.75G>A (p.Thr25=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1800140	NM_139076.3(ABRAXAS1):c.5A>C (p.Glu2Ala)	ABRAXAS1, LOC129992784 (E2A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1800075	NM_139076.3(ABRAXAS1):c.55G>T (p.Ala19Ser)	ABRAXAS1, LOC129992784 (A19S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1799993	NM_139076.3(ABRAXAS1):c.53T>C (p.Leu18Pro)	ABRAXAS1, LOC129992784 (L18P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1799950	NM_139076.3(ABRAXAS1):c.71A>T (p.Asn24Ile)	ABRAXAS1, LOC129992784 (N24I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1799889	NM_139076.3(ABRAXAS1):c.36C>A (p.Gly12=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1799832	NM_139076.3(ABRAXAS1):c.30C>T (p.Leu10=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1799831	NM_139076.3(ABRAXAS1):c.21G>T (p.Ser7=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1799744	NM_139076.3(ABRAXAS1):c.66C>T (p.His22=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1799722	NM_139076.3(ABRAXAS1):c.49G>T (p.Ala17Ser)	ABRAXAS1, LOC129992784 (A17S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1799656	NM_139076.3(ABRAXAS1):c.8G>A (p.Gly3Glu)	ABRAXAS1, LOC129992784 (G3E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1799642	NM_139076.3(ABRAXAS1):c.20C>T (p.Ser7Leu)	ABRAXAS1, LOC129992784 (S7L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1799606	NM_139076.3(ABRAXAS1):c.35G>A (p.Gly12Asp)	ABRAXAS1, LOC129992784 (G12D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1799591	NM_139076.3(ABRAXAS1):c.54C>G (p.Leu18=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1677173	NM_139076.3(ABRAXAS1):c.33G>T (p.Ser11=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 1651214	NM_139076.3(ABRAXAS1):c.87+7C>G	ABRAXAS1, LOC129992784	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1596453	NM_139076.3(ABRAXAS1):c.72C>T (p.Asn24=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1525588	NM_139076.3(ABRAXAS1):c.37T>C (p.Phe13Leu)	ABRAXAS1, LOC129992784 (F13L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1503741	NM_139076.3(ABRAXAS1):c.29T>C (p.Leu10Pro)	ABRAXAS1, LOC129992784 (L10P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1498552	NM_139076.3(ABRAXAS1):c.32C>T (p.Ser11Leu)	LOC129992784, ABRAXAS1 (S11L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1449940	NM_139076.3(ABRAXAS1):c.13A>G (p.Ser5Gly)	ABRAXAS1, LOC129992784 (S5G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1420981	NM_139076.3(ABRAXAS1):c.10G>T (p.Glu4Ter)	ABRAXAS1, LOC129992784 (E4*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1339748	NM_139076.3(ABRAXAS1):c.7G>A (p.Gly3Arg)	ABRAXAS1, LOC129992784 (G3R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1272768	NM_139076.3(ABRAXAS1):c.*249del	ABRAXAS1, MRPS18C	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1249152	NM_139076.3(ABRAXAS1):c.87+48_87+49insC	ABRAXAS1, LOC129992784	Insertion (intron variant)	not provided	GBenign
Select item 1243768	NM_139076.3(ABRAXAS1):c.87+45dup	ABRAXAS1, LOC129992784	Duplication (intron variant)	not provided	GBenign
Select item 1147171	NM_139076.3(ABRAXAS1):c.87+8G>A	ABRAXAS1, LOC129992784	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1120615	NM_139076.3(ABRAXAS1):c.6G>A (p.Glu2=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1110580	NM_139076.3(ABRAXAS1):c.78C>T (p.Asp26=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 1085131	NM_139076.3(ABRAXAS1):c.51A>C (p.Ala17=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1057356	NM_139076.3(ABRAXAS1):c.2T>C (p.Met1Thr)	ABRAXAS1, LOC129992784 (M1T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1047767	NM_139076.3(ABRAXAS1):c.10G>C (p.Glu4Gln)	ABRAXAS1, LOC129992784 (E4Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1045028	NM_139076.3(ABRAXAS1):c.14G>C (p.Ser5Thr)	ABRAXAS1, LOC129992784 (S5T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1041840	NM_139076.3(ABRAXAS1):c.2T>G (p.Met1Arg)	ABRAXAS1, LOC129992784 (M1R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1035537	NM_139076.3(ABRAXAS1):c.17C>T (p.Thr6Met)	ABRAXAS1, LOC129992784 (T6M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1026212	NM_139076.3(ABRAXAS1):c.12G>T (p.Glu4Asp)	ABRAXAS1, LOC129992784 (E4D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1021121	NM_139076.3(ABRAXAS1):c.26T>G (p.Val9Gly)	ABRAXAS1, LOC129992784 (V9G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1021014	NM_139076.3(ABRAXAS1):c.87+1G>A	ABRAXAS1, LOC129992784	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1019981	NM_139076.3(ABRAXAS1):c.11A>T (p.Glu4Val)	ABRAXAS1, LOC129992784 (E4V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1015073	NM_139076.3(ABRAXAS1):c.36C>G (p.Gly12=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 1010239	NM_139076.3(ABRAXAS1):c.14G>T (p.Ser5Ile)	ABRAXAS1, LOC129992784 (S5I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1007348	NM_139076.3(ABRAXAS1):c.28C>G (p.Leu10Val)	ABRAXAS1, LOC129992784 (L10V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1005848	NM_139076.3(ABRAXAS1):c.8G>C (p.Gly3Ala)	ABRAXAS1, LOC129992784 (G3A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1005747	NM_139076.3(ABRAXAS1):c.6G>C (p.Glu2Asp)	ABRAXAS1, LOC129992784 (E2D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 999268	NM_139076.3(ABRAXAS1):c.34G>C (p.Gly12Arg)	ABRAXAS1, LOC129992784 (G12R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 967504	NM_139076.3(ABRAXAS1):c.46G>A (p.Gly16Ser)	ABRAXAS1, LOC129992784 (G16S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 949484	NM_139076.3(ABRAXAS1):c.64C>A (p.His22Asn)	ABRAXAS1, LOC129992784 (H22N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 863547	NM_139076.3(ABRAXAS1):c.76G>T (p.Asp26Tyr)	ABRAXAS1, LOC129992784 (D26Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance

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