"Ambry Genetics"[submitter] AND "LOC129992784"[gene] - ClinVar

Search results

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1800382	NM_139076.3(ABRAXAS1):c.86C>T (p.Thr29Met)	ABRAXAS1, LOC129992784 (T29M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
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 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 632800	NM_139076.3(ABRAXAS1):c.82G>C (p.Asp28His)	ABRAXAS1, LOC129992784 (D28H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1110580	NM_139076.3(ABRAXAS1):c.78C>T (p.Asp26=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
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 specified +1 more	GUncertain significance
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 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 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 1596453	NM_139076.3(ABRAXAS1):c.72C>T (p.Asn24=)	LOC129992784, ABRAXAS1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
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 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 638822	NM_139076.3(ABRAXAS1):c.67C>T (p.Leu23Phe)	ABRAXAS1, LOC129992784 (L23F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
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 496540	NM_139076.3(ABRAXAS1):c.64C>T (p.His22Tyr)	ABRAXAS1, LOC129992784 (H22Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 496538	NM_139076.3(ABRAXAS1):c.63G>A (p.Gln21=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
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 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 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 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 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 700911	NM_139076.3(ABRAXAS1):c.54C>T (p.Leu18=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
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 649752	NM_139076.3(ABRAXAS1):c.52C>G (p.Leu18Val)	ABRAXAS1, LOC129992784 (L18V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	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 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 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 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 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 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 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 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 703125	NM_139076.3(ABRAXAS1):c.45C>T (p.Leu15=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
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 1800408	NM_139076.3(ABRAXAS1):c.43C>T (p.Leu15Phe)	ABRAXAS1, LOC129992784 (L15F)	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 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 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 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 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 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 999268	NM_139076.3(ABRAXAS1):c.34G>C (p.Gly12Arg)	LOC129992784, ABRAXAS1 (G12R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
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 182464	NM_139076.3(ABRAXAS1):c.33G>C (p.Ser11=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1498552	NM_139076.3(ABRAXAS1):c.32C>T (p.Ser11Leu)	ABRAXAS1, LOC129992784 (S11L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
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 1503741	NM_139076.3(ABRAXAS1):c.29T>C (p.Leu10Pro)	ABRAXAS1, LOC129992784 (L10P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	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 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 773946	NM_139076.3(ABRAXAS1):c.24G>A (p.Ala8=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
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 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 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 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 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 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 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 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 696728	NM_139076.3(ABRAXAS1):c.18G>A (p.Thr6=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely 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 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 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 850364	NM_139076.3(ABRAXAS1):c.15T>G (p.Ser5Arg)	ABRAXAS1, LOC129992784 (S5R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	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 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 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 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 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 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 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 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 416705	NM_139076.3(ABRAXAS1):c.7G>C (p.Gly3Arg)	LOC129992784, ABRAXAS1 (G3R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1120615	NM_139076.3(ABRAXAS1):c.6G>A (p.Glu2=)	ABRAXAS1, LOC129992784	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
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 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 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

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Items: 76