165[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	LOC129998373, LOC129998374 +231 more	Copy number loss	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 1227527	NC_000007.14:g.44104213GCCCCCC[2]	AEBP1	Microsatellite	not provided	GBenign
Select item 1248323	NM_001129.5(AEBP1):c.-64C>G	AEBP1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3352379	NM_001129.5(AEBP1):c.-4G>T	AEBP1	Single nucleotide variant (5 prime UTR variant)	AEBP1-related disorder	GLikely benign
Select item 1012796	NM_001129.5(AEBP1):c.2T>A (p.Met1Lys)	AEBP1 (M1K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2799220	NM_001129.5(AEBP1):c.15C>T (p.Arg5=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1197858	NM_001129.5(AEBP1):c.20C>A (p.Ala7Glu)	AEBP1 (A7E)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1321677	NM_001129.5(AEBP1):c.21G>A (p.Ala7=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1711655	NM_001129.5(AEBP1):c.27G>A (p.Leu9=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900465	NM_001129.5(AEBP1):c.30C>T (p.Leu10=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1482894	NM_001129.5(AEBP1):c.37C>T (p.Leu13Phe)	AEBP1 (L13F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2020889	NM_001129.5(AEBP1):c.39C>T (p.Leu13=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049233	NM_001129.5(AEBP1):c.43G>A (p.Ala15Thr)	AEBP1 (A15T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856867	NM_001129.5(AEBP1):c.48G>A (p.Leu16=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969565	NM_001129.5(AEBP1):c.54C>T (p.Ala18=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879509	NM_001129.5(AEBP1):c.72C>T (p.Arg24=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097529	NM_001129.5(AEBP1):c.79A>T (p.Thr27Ser)	AEBP1 (T27S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788545	NM_001129.5(AEBP1):c.87G>C (p.Leu29=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657422	NM_001129.5(AEBP1):c.99G>A (p.Glu33=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133487	NM_001129.5(AEBP1):c.135A>G (p.Leu45=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1637694	NM_001129.5(AEBP1):c.143A>G (p.Glu48Gly)	AEBP1 (E48G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1438563	NM_001129.5(AEBP1):c.145C>T (p.Pro49Ser)	AEBP1 (P49S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438901	NM_001129.5(AEBP1):c.194G>A (p.Arg65Gln)	AEBP1 (R65Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic-like, 2	GUncertain significance
Select item 1937659	NM_001129.5(AEBP1):c.197T>G (p.Val66Gly)	AEBP1 (V66G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896229	NM_001129.5(AEBP1):c.201A>G (p.Arg67=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695350	NM_001129.5(AEBP1):c.218del (p.Gly73fs)	AEBP1 (G73fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1653454	NM_001129.5(AEBP1):c.213G>T (p.Ala71=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953275	NM_001129.5(AEBP1):c.236C>G (p.Pro79Arg)	AEBP1 (P79R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798656	NM_001129.5(AEBP1):c.243G>C (p.Thr81=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1208978	NM_001129.5(AEBP1):c.253+82C>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283696	NM_001129.5(AEBP1):c.253+262C>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247246	NM_001129.5(AEBP1):c.254-235C>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1673908	NM_001129.5(AEBP1):c.254-19G>A	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987918	NM_001129.5(AEBP1):c.254-13G>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980120	NM_001129.5(AEBP1):c.254-5G>A	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998047	NM_001129.5(AEBP1):c.254-3C>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1321568	NM_001129.5(AEBP1):c.260C>T (p.Pro87Leu)	AEBP1 (P87L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1490068	NM_001129.5(AEBP1):c.267G>C (p.Lys89Asn)	AEBP1 (K89N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348880	NM_001129.5(AEBP1):c.267G>A (p.Lys89=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885444	NM_001129.5(AEBP1):c.298G>A (p.Asp100Asn)	AEBP1 (D100N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806903	NM_001129.5(AEBP1):c.309C>T (p.Pro103=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1433516	NM_001129.5(AEBP1):c.311A>G (p.Lys104Arg)	AEBP1 (K104R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129600	NM_001129.5(AEBP1):c.315G>A (p.Val105=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2030296	NM_001129.5(AEBP1):c.327C>A (p.Ser109=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1584670	NM_001129.5(AEBP1):c.336G>A (p.Gly112=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3371260	NM_001129.5(AEBP1):c.337T>A (p.Ser113Thr)	AEBP1 (S113T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1565125	NM_001129.5(AEBP1):c.348G>A (p.Pro116=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1427700	NM_001129.5(AEBP1):c.408_440del (p.121KEKPPKATKKP[3])	AEBP1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2881528	NM_001129.5(AEBP1):c.381C>A (p.Ala127=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1583278	NM_001129.5(AEBP1):c.384C>G (p.Thr128=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1586187	NM_001129.5(AEBP1):c.408T>C (p.Pro136=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1514022	NM_001129.5(AEBP1):c.409A>G (p.Lys137Glu)	AEBP1 (K137E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175059	NM_001129.5(AEBP1):c.411G>A (p.Lys137=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1490101	NM_001129.5(AEBP1):c.461A>G (p.Lys154Arg)	AEBP1 (K154R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1663644	NM_001129.5(AEBP1):c.465G>A (p.Glu155=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1566389	NM_001129.5(AEBP1):c.483C>T (p.Thr161=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2072773	NM_001129.5(AEBP1):c.494C>T (p.Pro165Leu)	AEBP1 (P165L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2194615	NM_001129.5(AEBP1):c.495G>A (p.Pro165=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2154188	NM_001129.5(AEBP1):c.507G>A (p.Arg169=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117031	NM_001129.5(AEBP1):c.551C>T (p.Pro184Leu)	AEBP1 (P184L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662385	NM_001129.5(AEBP1):c.557C>A (p.Pro186His)	AEBP1 (P186H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 736843	NM_001129.5(AEBP1):c.560C>G (p.Pro187Arg)	AEBP1 (P187R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2906775	NM_001129.5(AEBP1):c.561C>G (p.Pro187=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155173	NM_001129.5(AEBP1):c.574G>A (p.Glu192Lys)	AEBP1 (E192K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2858357	NM_001129.5(AEBP1):c.579G>A (p.Glu193=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918428	NM_001129.5(AEBP1):c.585C>T (p.Pro195=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1445242	NM_001129.5(AEBP1):c.587A>C (p.Gln196Pro)	AEBP1 (Q196P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623462	NM_001129.5(AEBP1):c.592G>A (p.Gly198Arg)	AEBP1 (G198R)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 2999677	NM_001129.5(AEBP1):c.595+10G>C	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2173817	NM_001129.5(AEBP1):c.595+10G>A	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790754	NM_001129.5(AEBP1):c.595+15C>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201083	NM_001129.5(AEBP1):c.595+211C>G	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189921	NM_001129.5(AEBP1):c.595+262C>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252754	NM_001129.5(AEBP1):c.596-255G>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204654	NM_001129.5(AEBP1):c.596-137C>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925560	NM_001129.5(AEBP1):c.596-15A>G	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928031	NM_001129.5(AEBP1):c.596-12_596-11del	AEBP1	Deletion (intron variant)	not provided	GLikely benign
Select item 2134461	NM_001129.5(AEBP1):c.596-10T>A	AEBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 788267	NM_001129.5(AEBP1):c.599C>T (p.Ala200Val)	AEBP1 (A200V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1608735	NM_001129.5(AEBP1):c.600G>A (p.Ala200=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414432	NM_001129.5(AEBP1):c.626C>T (p.Pro209Leu)	AEBP1 (P209L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326562	NM_001129.5(AEBP1):c.651A>T (p.Ala217=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1810041	NM_001129.5(AEBP1):c.652C>T (p.Arg218Trp)	AEBP1 (R218W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979083	NM_001129.5(AEBP1):c.655del (p.Glu219fs)	AEBP1 (E219fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2097782	NM_001129.5(AEBP1):c.667+11G>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644563	NM_001129.5(AEBP1):c.667+11G>A	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642955	NM_001129.5(AEBP1):c.667+15T>C	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635584	NM_001129.5(AEBP1):c.667+17C>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988235	NM_001129.5(AEBP1):c.667+18G>A	AEBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266975	NM_001129.5(AEBP1):c.667+56G>A	AEBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293987	NM_001129.5(AEBP1):c.668-35G>A	AEBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1988889	NM_001129.5(AEBP1):c.668-14C>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1608871	NM_001129.5(AEBP1):c.668-13G>T	AEBP1	Single nucleotide variant (intron variant)	not provided	GBenign

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